Endocrine and metabolic Flashcards

Question

Clinical features of Paget’s disease?

Answer 1

only 5% of patients are symptomatic the stereotypical presentation is an older male with bone pain and an isolated raised ALP bone pain (e.g. pelvis, lumbar spine, femur) classical, untreated features: bowing of tibia, bossing of skull

Answer 2

- bloods - other markers of bone turnover - X-rays - bone scintigraphy

Answer 3

raised alkaline phosphatase (ALP) calcium and phosphate are typically normal. Hypercalcaemia may occasionally occur with prolonged immobilisation

Answer 4

procollagen type I N-terminal propeptide (PINP) serum C-telopeptide (CTx) urinary N-telopeptide (NTx) urinary hydroxyproline

Answer 5

osteolysis in early disease → mixed lytic/sclerotic lesions later skull x-ray: thickened vault, osteoporosis circumscripta

Answer 6

Increased uptake is seen focally at the sites of active bone lesion

Answer 7

indications for treatment include bone pain skull or long bone deformity fracture periarticular Paget's bisphosphonate (either oral risedronate or IV zoledronate) calcitonin is less commonly used now

Answer 8

deafness (cranial nerve entrapment) bone sarcoma (1% if affected for > 10 years) fractures skull thickening high-output cardiac failure

Answer 9

excess secretion of PTH resulting in hypercalcaemia. It is the most common cause of hypercalcaemia in outpatients and is often diagnosed following an incidental finding of an elevated serum calcium concentration. In 85% of cases a parathyroid adenoma is responsible.

Answer 10

85%: solitary adenoma 10%: hyperplasia 4%: multiple adenoma 1%: carcinoma

Answer 11

- 80% of patients may asymptomatic polydipsia, polyuria depression anorexia, nausea, constipation peptic ulceration pancreatitis bone pain/fracture renal stones hypertension

Answer 12

`Bones, groans, abdominal groans and psychic moans

Answer 13

- hypertension - mutiple endocrine neoplasia: Men I and Men II

Answer 14

the definitive management is total parathyroidectomy conservative management may be offered if the calcium level is less than 0.25 mmol/L above the upper limit of normal AND the patient is > 50 years AND there is no evidence of end-organ damage patients not suitable for surgery may be treated with cinacalcet, a calcimimetic a calcimimetic 'mimics' the action of calcium on tissues by allosteric activation of the calcium-sensing receptor

Answer 15

bloods raised calcium, low phosphate PTH may be raised or (inappropriately, given the raised calcium) normal technetium-MIBI subtraction scan x-ray findings pepperpot skull osteitis fibrosa cystica

Answer 16

abnormal amount of breast tissue in males and is usually caused by an increased oestrogen:androgen ratio. It is important to differentiate the causes of galactorrhoea (due to the actions of prolactin on breast tissue) from those of gynaecomastia

Answer 17

physiological: normal in puberty syndromes with androgen deficiency: Kallman's, Klinefelter's testicular failure: e.g. mumps liver disease testicular cancer e.g. seminoma secreting hCG ectopic tumour secretion hyperthyroidism haemodialysis drugs

Answer 18

spironolactone (most common drug cause) cimetidine digoxin cannabis finasteride GnRH agonists e.g. goserelin, buserelin oestrogens, anabolic steroids

Answer 19

tricyclics isoniazid calcium channel blockers heroin busulfan methyldopa

Answer 20

a clinic reading persistently above >= 140/90 mmHg, or: a 24 hour blood pressure average reading >= 135/85 mmHg

Answer 21

This is where there is no single disease causing the rise in blood pressure but rather a series of complex physiological changes which occur as we get older.

Answer 22

caused by a wide variety of endocrine, renal and other causes.

Answer 23

Glomerulonephritis • Chronic pyelonephritis • Adult polycystic kidney disease • Renal artery stenosis

Answer 24

Primary hyperaldosteronism • Phaeochromocytoma • Cushing's syndrome • Liddle's syndrome • Congenital adrenal hyperplasia (11-beta hydroxylase deficiency) • Acromegaly

Answer 25

Glucocorticoids • NSAIDs • Pregnancy • Coarctation of the aorta • Combined oral contraceptive pill

Answer 26

Typically asymptomatic If above 200/120 patients may experience headaches visual disturbance seizures

Answer 27

fundoscopy: to check for hypertensive retinopathy urine dipstick: to check for renal disease, either as a cause or consequence of hypertension ECG: to check for left ventricular hypertrophy or ischaemic heart disease

Answer 28

- 24 hour reasoning -24 hour blood pressure monitoring is not available then home readings using an automated sphygmomanometer are useful. urea and electrolytes: check for renal disease, either as a cause or consequence of hypertension HbA1c: check for co-existing diabetes mellitus, another important risk factor for cardiovascular disease lipids: check for hyperlipidaemia, again another important risk factor for cardiovascular disease ECG urine dipstick

Answer 29

drug therapy using antihypertensives modification of other risk factors to reduce the overall risk of cardiovascular disease monitoring the patient for the development of complications of hypertension

Answer 30

Inhibit the conversion angiotensin I to angiotensin II Associated with cough, angioedema, hyperkalaemia

Answer 31

Block voltage-gated calcium channels relaxing vascular smooth muscle and force of myocardial contraction Flushing Ankle swelling Headache

Answer 32

Inhibit sodium absorption at the beginning of the distal convoluted tubule Hyponatraemia Hypokalaemia Dehydration

Answer 33

Block effects of angiotensin II at the AT1 receptor Hyperkalaemia

Answer 34

Clinic BP >= 140/90 mmHg and subsequent ABPM daytime average or HBPM average BP >= 135/85 mmHg

Answer 35

Clinic BP >= 160/100 mmHg and subsequent ABPM daytime average or HBPM average BP >= 150/95 mmHg

Answer 36

Clinic systolic BP >= 180 mmHg, or clinic diastolic BP >= 120 mmHg

Answer 37

Immediate referral for: Retinal haemorrhage or papilloedema (accelerated hypertension). Life-threatening symptoms: new confusion, chest pain, heart failure, or acute kidney injury. Suspected phaeochromocytoma (e.g., labile/postural hypotension, headache, palpitations, pallor, sweating). If none of the above: Urgent investigations for end-organ damage (e.g., bloods, urine ACR, ECG). If target organ damage is found: Start antihypertensive treatment immediately (don’t wait for ABPM or HBPM). If no target organ damage: Repeat clinic BP measurement.

Answer 38

at least 2 measurements per hour during the person's usual waking hours (for example, between 08:00 and 22:00) use the average value of at least 14 measurements If ABPM not tolerated, consider HBPM

Answer 39

for each BP recording, two consecutive measurements need to be taken, at least 1 minute apart and with the person seated BP should be recorded twice daily, ideally in the morning and evening BP should be recorded for at least 4 days, ideally for 7 days discard the measurements taken on the first day and use the average value of all the remaining measurements

Answer 40

treat if < 80 years of age AND any of the following apply; target organ damage, established cardiovascular disease, renal disease, diabetes or a 10-year cardiovascular risk equivalent to 10% or greater in 2019, NICE made a further recommendation, suggesting that we should 'consider antihypertensive drug treatment in addition to lifestyle advice for adults aged under 60 with stage 1 hypertension and an estimated 10-year risk below 10%. '. This seems to be due to evidence that QRISK may underestimate the lifetime probability of developing cardiovascular disease

Answer 41

OFFER DRUG REGARDLESS OF AGE

Answer 42

translates to 'middle pain' and refers to abdominal pain associated with ovulation. This mid-cyclical pain is experienced by 20% of women and there are several theories as to why it occurs occurs due to a leakage of follicular fluid containing prostaglandins at the time of ovulation, which causes the pain. Another explanation is that the growth of the follicle stretches the surface of the ovary, causing pain.

Answer 43

Sudden onset of pain in either iliac fossa which then manifests as a generalised pelvic pain. Typically, the pain is not severe and varies in duration, lasting from minutes to hours. It is self-limiting and resolves within 24 hours of onset. Pain may switch side from month to month, depending on the site of ovulation

Answer 44

There is no specific test to confirm Mittelschmerz and it diagnosed clinically, after taking a full history and examination to exclude other conditions No abnormal signs on abdominal or pelvic examination.

Answer 45

Mittelschmerz is not harmful and can be controlled with simple analgesia.

Answer 46

excessive pain during the menstrual period. It is traditionally divided into primary and secondary dysmenorrhoea.

Answer 47

underlying pelvic pathology. It affects up to 50% of menstruating women and usually appears within 1-2 years of the menarche. Excessive endometrial prostaglandin production is thought to be partially responsible.

Answer 48

pain typically starts just before or within a few hours of the period starting suprapubic cramping pains which may radiate to the back or down the thigh

Answer 49

NSAIDs such as mefenamic acid and ibuprofen are effective in up to 80% of women. They work by inhibiting prostaglandin production combined oral contraceptive pills are used second line

Answer 50

develops many years after the menarche and is the result of an underlying pathology. In contrast to primary dysmenorrhoea the pain usually starts 3-4 days before the onset of the period.

Answer 51

endometriosis adenomyosis pelvic inflammatory disease intrauterine devices- copper coil fibroids

Answer 52

management has shifted towards what the woman considers to be excessive. Treatment based on whether woman needs contraception

Answer 53

a full blood count should be performed in all women NICE recommend arranging a routine transvaginal ultrasound scan if symptoms (for example, intermenstrual or postcoital bleeding, pelvic pain and/or pressure symptoms) suggest a structural or histological abnormality. Other indications include abnormal pelvic exam findings.

Answer 54

either mefenamic acid 500 mg tds (particularly if there is dysmenorrhoea as well) or tranexamic acid 1 g tds. Both are started on the first day of the period if no improvement then try other drug whilst awaiting referral

Answer 55

intrauterine system (Mirena) should be considered first-line combined oral contraceptive pill long-acting progestogens Norethisterone 5 mg tds can be used as a short-term option to rapidly stop heavy menstrual bleeding.

Answer 56

complex condition of ovarian dysfunction thought to affect between 5-20% of women of reproductive age. The aetiology of PCOS is not fully understood. Both hyperinsulinaemia and high levels of luteinizing hormone are seen in PCOS and there appears to be some overlap with the metabolic syndrome.

Answer 57

subfertility and infertility menstrual disturbances: oligomenorrhoea and amenorrhoea hirsutism, acne (due to hyperandrogenism) obesity acanthosis nigricans (due to insulin resistance)

Answer 58

pelvic ultrasound: multiple cysts on the ovaries NICE Clinical Knowledge Summaries recommend the following baseline investigatons: FSH, LH, prolactin, TSH, testosterone, sex hormone-binding globulin (SHBG) are useful investigations raised LH:FSH ratio is a 'classical' feature but is no longer thought to be useful in diagnosis prolactin may be normal or mildly elevated testosterone may be normal or mildly elevated - however, if markedly raised consider other causes SHBG is normal to low in women with PCOS check for impaired glucose tolerance

Answer 59

a formal diagnosis should only be made after performing investigations to exclude other conditions the Rotterdam criteria state that a diagnosis of PCOS can be made if 2 of the following 3 are present: infrequent or no ovulation (usually manifested as infrequent or no menstruation) clinical and/or biochemical signs of hyperandrogenism (such as hirsutism, acne, or elevated levels of total or free testosterone) polycystic ovaries on ultrasound scan (defined as the presence of ≥ 12 follicles (measuring 2-9 mm in diameter) in one or both ovaries and/or increased ovarian volume > 10 cm³)

Answer 60

weight reduction if appropriate if a women requires contraception then a combined oral contraceptive (COC) pill may help regulate her cycle and induce a monthly bleed (see below)

Answer 61

a COC pill may be used help manage hirsutism. Possible options include a third generation COC which has fewer androgenic effects or co-cyprindiol which has an anti-androgen action. Both of these types of COC may carry an increased risk of venous thromboembolism if doesn't respond to COC then topical eflornithine may be tried spironolactone, flutamide and finasteride may be used under specialist supervision

Answer 62

weight reduction if appropriate the management of infertility in patients with PCOS should be supervised by a specialist. There is an ongoing debate as to whether metformin, clomifene or a combination should be used to stimulate ovulation a 2007 trial published in the New England Journal of Medicine suggested clomifene was the most effective treatment. There is a potential risk of multiple pregnancies with anti-oestrogen therapies such as clomifene. The RCOG published an opinion paper in 2008 and concluded that on current evidence metformin is not a first line treatment of choice in the management of PCOS metformin is also used, either combined with clomifene or alone, particularly in patients who are obese gonadotrophins

Answer 63

Premenstrual syndrome (PMS) describes the emotional and physical symptoms that women may experience in the luteal phase of the normal menstrual cycle. PMS only occurs in the presence of ovulatory menstrual cycles - it doesn't occur prior to puberty, during pregnancy or after the menopause.

Answer 64

anxiety stress fatigue mood swings

Answer 65

- bloating - breast pain

Answer 66

apart from the usual advice on sleep, exercise, smoking and alcohol, specific advice includes regular, frequent (2-3 hourly), small, balanced meals rich in complex carbohydrates

Answer 67

new-generation combined oral contraceptive pill (COCP) examples include Yasminµ (drospirenone 3 mg and ethinylestradiol 0.030 mg)

Answer 68

selective serotonin reuptake inhibitor (SSRI) this may be taken continuously or just during the luteal phase (for example days 15-28 of the menstrual cycle, depending on its length)

Answer 69

Autoimmune destruction of the adrenal glands is the most common cause of primary hypoadrenalism in the UK, accounting for 80% of cases. This is termed Addison's disease and results in reduced cortisol and aldosterone being produced

Answer 70

lethargy, weakness, anorexia, nausea & vomiting, weight loss, 'salt-craving' hyperpigmentation (especially palmar creases) vitiligo loss of pubic hair in women hypotension hypoglycaemia hyponatraemia and hyperkalaemia may be seen crisis: collapse, shock, pyrexia

Answer 71

ACTH is derived from a larger precursor molecule called proopiomelanocortin (POMC). When POMC is cleaved to produce ACTH, other melanocyte-stimulating hormones (MSH) are also produced. These MSHs have the effect of stimulating melanocytes in the skin to produce more melanin, the pigment responsible for skin colour primary Addison's is associated with hyperpigmentation whereas secondary adrenal insufficiency is not

Answer 72

tuberculosis metastases (e.g. bronchial carcinoma) meningococcal septicaemia (Waterhouse-Friderichsen syndrome) HIV antiphospholipid syndrome

Answer 73

pituitary disorders (e.g. tumours, irradiation, infiltration) Exogenous glucocorticoid therapy

Answer 74

hyperkalaemia hyponatraemia hypoglycaemia metabolic acidosis

Answer 75

ACTH stimulation test (short Synacthen test). Plasma cortisol is measured before and 30 minutes after giving Synacthen 250ug IM. Adrenal autoantibodies such as anti-21-hydroxylase may also be demonstrated.

Answer 76

> 500 nmol/l makes Addison's very unlikely < 100 nmol/l is definitely abnormal 100-500 nmol/l should prompt a ACTH stimulation test to be performed

Answer 77

glucocorticoid and mineralocorticoid replacement therapy. hydrocortisone: usually given in 2 or 3 divided doses. Patients typically require 20-30 mg per day, with the majority given in the first half of the day fludrocortisone

Answer 78

emphasise the importance of not missing glucocorticoid doses consider MedicAlert bracelets and steroid cards patients should be provided with hydrocortisone for injection with needles and syringes to treat an adrenal crisis discuss how to adjust the glucocorticoid dose during an intercurrent illness (see below)

Answer 79

in simple terms the glucocorticoid dose should be doubled, with the fludrocortisone dose staying the same the Addison's Clinical Advisory Panel have produced guidelines detailing particular scenarios - please see the CKS link for more details

Answer 80

sepsis or surgery causing an acute exacerbation of chronic insufficiency (Addison's, Hypopituitarism) adrenal haemorrhage eg Waterhouse-Friderichsen syndrome (fulminant meningococcemia) steroid withdrawal

Answer 81

hydrocortisone 100 mg im or iv 1 litre normal saline infused over 30-60 mins or with dextrose if hypoglycaemic continue hydrocortisone 6 hourly until the patient is stable. No fludrocortisone is required because high cortisol exerts weak mineralocorticoid action oral replacement may begin after 24 hours and be reduced to maintenance over 3-4 days

Answer 82

complication of existing type 1 diabetes mellitus or be the first presentation, accounting for around 6% of cases. Rarely, under conditions of extreme stress, patients with type 2 diabetes mellitus may also develop DKA.

Answer 83

DKA is caused by uncontrolled lipolysis (not proteolysis) which results in an excess of free fatty acids that are ultimately converted to ketone bodies

Answer 84

abdominal pain polyuria, polydipsia, dehydration Kussmaul respiration (deep hyperventilation) Acetone-smelling breath ('pear drops' smell

Answer 85

glucose > 13.8 mmol/l pH < 7.30 serum bicarbonate <18 mmol/l anion gap > 10 ketonaemia

Answer 86

glucose > 11 mmol/l or known diabetes mellitus pH < 7.3 bicarbonate < 15 mmol/l ketones > 3 mmol/l or urine ketones ++ on dipstick

Answer 87

-fluid replacement - insulin -correction of electrolytes disturbance -long-acting insulin should be continued, short-acting insulin should be stopped

Answer 88

most patients with DKA are deplete around 5-8 litres isotonic saline is used initially, even if the patient is severely acidotic

Answer 89

an intravenous infusion should be started at 0.1 unit/kg/hour once blood glucose is < 14 mmol/l an infusion of 10% dextrose should be started at 125 mls/hr in addition to the 0.9% sodium chloride regime

Answer 90

serum potassium is often high on admission despite total body potassium being low this often falls quickly following treatment with insulin resulting in hypokalaemia potassium may therefore need to be added to the replacement fluids if the rate of potassium infusion is greater than 20 mmol/hour then cardiac monitoring may be required

Answer 91

pH >7.3 and blood ketones < 0.6 mmol/L and bicarbonate > 15.0mmol/L Further points include both the ketonaemia and acidosis should have been resolved within 24 hours. If this hasn't happened the patient requires senior review from an endocrinologist if the above criteria are met and the patient is eating and drinking switch to subcutaneous insulin the patient should be reviewed by the diabetes specialist nurse prior to discharge

Answer 92

gastric stasis thromboembolism arrhythmias secondary to hyperkalaemia/iatrogenic hypokalaemia iatrogenic due to incorrect fluid therapy: cerebral oedema hypokalaemia, hypoglycaemia acute respiratory distress syndrome acute kidney injury

Answer 93

children/young adults are particularly vulnerable to cerebral oedema following fluid resuscitation in DKA and often need 1:1 nursing to monitor neuro-observations, headache, irritability, visual disturbance, focal neurology etc. It usually occurs 4-12 hours following commencement of treatment but can present at any time. If there is any suspicion a CT head and senior review should be sought

Answer 94

neck lump hoarseness persistent sore throat persistent mouth ulcer

Answer 95

Consider a suspected cancer pathway referral (for an appointment within 2 weeks) for laryngeal cancer in people aged 45 and over with: persistent unexplained hoarseness or an unexplained lump in the neck

Answer 96

Consider a suspected cancer pathway referral (for an appointment within 2 weeks) for oral cancer in people with either: unexplained ulceration in the oral cavity lasting for more than 3 weeks or a persistent and unexplained lump in the neck. Consider an urgent referral (for an appointment within 2 weeks) for assessment for possible oral cancer by a dentist in people who have either: a lump on the lip or in the oral cavity or a red or red and white patch in the oral cavity consistent with erythroplakia or erythroleukoplakia.

Answer 97

Consider a suspected cancer pathway referral (for an appointment within 2 weeks) for thyroid cancer in people with an unexplained thyroid lump.

Answer 98

By far the most common cause of neck swellings. There may be a history of local infection or a generalised viral illness

Answer 99

Rubbery, painless lymphadenopathy The phenomenon of pain whilst drinking alcohol is very uncommon There may be associated night sweats and splenomegaly

Answer 100

May be hypo-, eu- or hyperthyroid symptomatically Moves upwards on swallowing

Answer 101

More common in patients < 20 years old Usually midline, between the isthmus of the thyroid and the hyoid bone Moves upwards with protrusion of the tongue May be painful if infected

Answer 102

More common in older men Represents a posteromedial herniation between thyropharyngeus and cricopharyngeus muscles Usually not seen but if large then a midline lump in the neck that gurgles on palpation Typical symptoms are dysphagia, regurgitation, aspiration and chronic cough

Answer 103

A congenital lymphatic lesion (lymphangioma) typically found in the neck, classically on the left side Most are evident at birth, around 90% present before 2 years of age

Answer 104

An oval, mobile cystic mass that develops between the sternocleidomastoid muscle and the pharynx Develop due to failure of obliteration of the second branchial cleft in embryonic development Usually present in early adulthood

Answer 105

More common in adult females Around 10% develop thoracic outlet syndrome

Answer 106

Pulsatile lateral neck mass which doesn't move on swallowing

Answer 107

During breast feeding

Answer 108

Commonest cause may be response to emotional events, drugs such as histamine receptor antagonists are also implicated

Answer 109

Commonest type of pituitary tumour Microadenomas <1cm in diameter Macroadenomas >1cm in diameter Pressure on optic chiasm may cause bitemporal hemianopia

Answer 110

Dilatation breast ducts. Most common in menopausal women Discharge typically thick and green in colour Most common in smokers

Answer 111

Often blood stained May be underlying mass or axillary lymphadenopathy

Answer 112

Commoner in younger patients May cause blood stained discharge There is usually no palpable lump

Answer 113

Examine breast and determine whether there is mass lesion present All mass lesions should undergo Triple assessment.

Answer 114

- bi manual assessment - mammogram - needle biopsy

Answer 115

1 No abnormality 2 Abnormality with benign features 3 Indeterminate probably benign 4 Indeterminate probably malignant 5 Malignant

Answer 116

Exclude endocrine disease Nipple cytology unhelpful Smoking cessation advice for duct ectasia For duct ectasia with severe symptoms, total duct excision may be warranted.

Answer 117

iatrogenic: steroids adrenal adenoma (5-10%) adrenal carcinoma (rare) Carney complex: syndrome including cardiac myxoma micronodular adrenal dysplasia (very rare)

Answer 118

mimics Cushing's often due to alcohol excess or severe depression causes false positive dexamethasone suppression test or 24 hr urinary free cortisol insulin stress test may be used to differentiate

Answer 119

Cushing's disease (80%): pituitary tumour secreting ACTH producing adrenal hyperplasia ectopic ACTH production (5-10%): e.g. small cell lung cancer is the most common causes

Answer 120

exogenous causes of Cushing's syndrome (e.g. glucocorticoid therapy) are far more common than endogenous ones.

Answer 121

hypokalaemic metabolic alkalosis may be seen, along with impaired glucose tolerance. Ectopic ACTH secretion (e.g. secondary to small cell lung cancer) is characteristically associated with very low potassium levels.

Answer 122

overnight (low-dose) dexamethasone suppression test 24 hr urinary free cortisol Bedtime salivary cortisol

Answer 123

this is the most sensitive test and is now used first-line to test for Cushing's syndrome patients with Cushing's syndrome do not have their morning cortisol spike suppressed

Answer 124

two measurements are required

Answer 125

two measurements are required

Answer 126

Cushing's syndrome due to other causes (e.g. adrenal adenomas)

Answer 127

Cushing's disease (i.e. pituitary adenoma → ACTH secretion)

Answer 128

Ectopic ACTH syndrome

Answer 129

CRH stimulation if pituitary source then cortisol rises if ectopic/adrenal then no change in cortisol Petrosal sinus sampling of ACTH may be needed to differentiate between pituitary and ectopic ACTH secretion. An insulin stress test is used to differentiate between true Cushing's and pseudo-Cushing's.

Answer 130

Primary treatment is surgical removal of the underlying cause (e.g., adrenal tumor, pituitary adenoma). If surgery isn't feasible or unsuccessful, medical therapy may include adrenal enzyme inhibitors (e.g., ketoconazole, metyrapone), cortisol receptor blockers (e.g., mifepristone), or pituitary-directed drugs (e.g., pasireotide). Close monitoring of symptoms, cortisol levels, and potential complications (e.g., osteoporosis, hypertension) is crucial. Lifestyle modifications such as dietary changes and exercise may be recommended to manage weight gain and other associated symptoms

Answer 131

Hypertension Osteoporosis Diabetes mellitus Muscle weakness Skin changes Mood disturbances Menstrual irregularities and infertility CVD Increased susceptibility to infection

Answer 132

* Rare conditon which is caused by growth hormone-secreting pituitary adenoma

Answer 133

* ** Pituitary adenoma: ** * **Primary pituitary hyperplasia**:

Answer 134

* Hypothalamic source * Ectopic GHRH release

Answer 135

Excess growth hormone (GH) results in excess production of insulin-like growth factor 1 (IGF-1)

Answer 136

* **gigantism** occurs before epiphyseal plate closure, leading to excessive linear growth. * **Acromegaly** occurs after plate closure, causing enlargement of bones and soft tissues.

Answer 137

1. **Bedside tests** * urine dip * ecg * fundoscopy +perimertry 2.** Bloods** * IGF1 * oral glucose tolerance test * anterior pituitary profile 3.** Radiology** * CXR (cardiomegaly) * MRI Pituitary (adenoma) * If considering an ectopic source, can do CTCAP 4. **Specialty tests** * Sleep studies * colonoscopy

Answer 138

* TFT * LH * FSH * Prolactin * Oestrogen * Testosterone * Cortisol * HBA1c

Answer 139

1.Surgery **Transphenoidal (first line)/transfrontal resection of the pituitary +/-radiotherapy** 2. **Drug managment ** * octreotide, lanreorid * Growth hormone antagonists (pegvisomant) * Dopamine agonists (bromocriptine, cabergoline) 3. **follow up** * monitor for bowel changes * blood tests to make sure no reoccurance

Answer 140

* Hypotension * Fatigue and weakness * Gastrointestinal symptoms * Syncope * Skin pigmentation due to increased ACTH which stimulates production of alpha melanocyte stimulating hormone (MSH).

Answer 141

* U+E and serum cortisol * ACTH * Renin * aldosterone ---------------------------- * Testing for adrenal auto-antibodies * Chest X-ray * CT scan of the adrenal glands * MRI of the brain

Answer 142

* hyperkalaemic * hyponatraemic, * hypoglycaemic metabolic acidosis

Answer 143

ACTH (Short Synacthen) test

Answer 144

Doubling the regular steroid medication dose during any intercurrent illness

Answer 145

* Aggressive fluid resuscitation * Administration of intravenous/IM (if no access) steroids STAT * Glucose administration if hypoglycaemia is present

Answer 146

life-threatening condition that occurs when the body experiences a severe deficiency in cortisol

Answer 147

Sudden and severe weakness Fatigue Nausea and vomiting Abdominal pain Low blood pressure Dehydration Confusion or loss of consciousness

Answer 148

Inadequate cortisol production due to adrenal gland dysfunction Stressful events such as infections, trauma, or surgery Sudden withdrawal of corticosteroid medications Adrenal hemorrhage or infarction

Answer 149

Proper adherence to corticosteroid replacement therapy in individuals with Addison's disease Awareness of stressors that may precipitate a crisis and proactive management Carrying medical identification indicating adrenal insufficiency status Education of family members and caregivers regarding signs and management of Addison's crisis

Answer 150

* Addisonian crisis (life-threatening adrenal crisis) * Severe electrolyte imbalances * Cardiovascular collapse * Hypoglycemia * Side effects of long term corticosteroid use e.g. osteoporosis

Answer 151

condition characterized by the reduced production or response to antidiuretic hormone (ADH), resulting in excessive urination and thirst.

Answer 152

* Cranial * Nephrogenic

Answer 153

* Head trauma * Inflammatory conditions (e.g., sarcoidosis) * Cranial infections such as meningitis * Vascular conditions such as sickle cell disease * Rare genetic causes

Answer 154

* Drugs (e.g., lithium) * Metabolic disturbances (e.g., hypercalcaemia, hypokalaemia, hyperglycaemia) * Chronic renal disease * Rare genetic causes (e.g., Wolfram's syndrome)

Answer 155

* Lithium: * Tetracyclines: * Antifungals: Medications like amphotericin B. * Antivirals: * Nonsteroidal Anti-inflammatory Drugs (NSAIDs): Such as ibuprofen.

Answer 156

Large volumes of dilute urine (>3 litres in 24 hours and a urine osmolality of <300 mOsm/kg) Nocturia Excessive thirst ------------------------------------------ In childten Failure to thrive Enuresis

Answer 157

* Urea and electrolytes (sodium may be raised) * Blood glucose (to rule out diabetes mellitus) * Urine dip * Paired serum and urine osmolality measurements

Answer 158

serum osmolality is raised** (>295 mOsm/kg**) with inappropriately dilute urine (**urine osmolality < 300 mOsm/kg).** If the diagnosis remains uncertain then water deprivation

Answer 159

* Cranial diabetes insipidus can be managed with **desmopressin** * Sodium levels should be monitored routinely due to the **risk of hyponatraemia**.

Answer 160

* Correcting any underlying metabolic abnormalities * discontinuing any offending drugs. * High dose desmopressin (meh) * Thiazide diuretic * non-steroidal anti-inflammatory drug to reduce urine volume.

Answer 161

* Recognized adverse effect of the anti-arrhythmic agent. * Amiodarone is rich in iodine,

Answer 162

* **AIT type 1** - direct toxic effect of amiodarone on the thyroid gland causing thyroiditis, * **AIT type 2**-amiodarone triggers underlying thyroid autoimmunity.

Answer 163

Weight loss Tremors Palpitations Nervousness Fatigue

Answer 164

* galactorrhea * menstruation issues

Answer 165

* hypothyroidism * hyperthyroidism/thyrotoxicosis * corneal deposits * Stevens-Johnson syndrome * skin discoloration * liver failure * pneumonitis * pulmonary fibrosis.

Answer 166

* Thyroid function tests: Monitoring for hypothyroidism and hyperthyroidism. * Liver function tests: To monitor for hepatic toxicity. * Pulmonary function tests and chest radiography: To monitor for pulmonary toxicity. * Ophthalmologic examination: To monitor for corneal deposits and optic neuropathy.

Answer 167

* stimulate the pancreatic beta cells, promoting the release of insulin * 40-80mg daily max 320mg daily.

Answer 168

Hypoglycemia is a significant risk with sulfonylureas. Weight gain Nausea Diarrhoea Allergic reactions

Answer 169

* Type 1 diabetes * Diabetic ketoacidosis * Severe renal or hepatic impairment

Answer 170

* increasing peripheral insulin sensitivity, thus lowering blood glucose levels. * 15-30mg once daily Max 45mg once daily.

Answer 171

Weight gain Fluid retention leading to heart failure Increased risk of fractures Potentially an increased risk of bladder cancer.

Answer 172

nhibitors increase urinary glucose excretion, thus reducing blood glucose levels. Dose: The usual dose for dapagliflozin is 10mg once daily.

Answer 173

* Genital mycotic infections * Urinary tract infections * Euglycemic diabetic ketoacidosis * Increased risk of lower limb amputation

Answer 174

Severe renal impairment or end-stage renal disease

Answer 175

Nasopharyngitis Upper respiratory tract infection Headache Pancreatitis

Answer 176

Sitagliptin should be used with caution in patients with a history of pancreatitis. The dose should be adjusted in patients with renal impairment.

Answer 177

Excess growth hormone secondary to a pituitary adenoma ## Footnote A minority of cases are caused by ectopic GHRH or GH production by tumors, such as pancreatic tumors.

Answer 178

* Coarse facial appearance * Spade-like hands * Increase in shoe size * Large tongue * Prognathism * Interdental spaces * Excessive sweating and oily skin * Features of pituitary tumor (hypopituitarism, headaches, bitemporal hemianopia) * Raised prolactin in 1/3 of cases leading to galactorrhoea * 6% of patients have MEN-1 ## Footnote These features arise due to the effects of excess growth hormone.

Answer 179

Galactorrhoea ## Footnote This occurs in approximately 1/3 of cases.

Answer 180

Diabetes (>10%) ## Footnote Diabetes is one of the significant complications associated with acromegaly.

Answer 181

* Hypertension * Diabetes * Cardiomyopathy * Colorectal cancer ## Footnote These complications are important to monitor in patients with acromegaly.

Answer 182

True ## Footnote This is a minority of cases compared to pituitary adenoma.

Answer 183

hypopituitarism ## Footnote Hypopituitarism can occur due to the pressure effects of the tumor.

Answer 184

Coarse facial appearance ## Footnote This is one of the hallmark features of the condition.

Answer 185

6% ## Footnote MEN-1 (Multiple Endocrine Neoplasia type 1) is a genetic syndrome that can be associated with acromegaly.

Answer 186

Trans-sphenoidal surgery ## Footnote This surgical approach is typically the preferred method for managing acromegaly caused by pituitary tumors.

Answer 187

Medication ## Footnote Various medications may be considered to manage acromegaly when surgical options are limited.

Answer 188

A medication that directly inhibits the release of growth hormone ## Footnote An example is octreotide, which is effective in 50-70% of patients.

Answer 189

50-70% of patients ## Footnote Octreotide is a somatostatin analogue used to inhibit growth hormone release.

Answer 190

A GH receptor antagonist that prevents dimerization of the GH receptor ## Footnote It is administered once daily via subcutaneous injection and decreases IGF-1 levels in 90% of patients to normal.

Answer 191

90% ## Footnote Pegvisomant is effective in normalizing IGF-1 levels, but does not reduce tumor volume.

Answer 192

It doesn't reduce tumour volume ## Footnote Surgery may still be necessary if there is a mass effect from the tumor.

Answer 193

They are the first effective medical treatment for acromegaly ## Footnote An example is bromocriptine, but their use is now largely superseded by somatostatin analogues.

Answer 194

False ## Footnote Dopamine agonists are effective only in a minority of patients.

Answer 195

For older patients or following failed surgical/medical treatment ## Footnote This approach is considered when other treatment options have not been successful.

Answer 196

An inherited cause of severe hypokalaemia due to defective chloride absorption at the NKCC2 in the ascending loop of Henle ## Footnote Usually autosomal recessive

Answer 197

Usually autosomal recessive ## Footnote This means that two copies of the mutated gene are required for the syndrome to manifest

Answer 198

Defective chloride absorption at the NKCC2 in the ascending loop of Henle ## Footnote This leads to severe hypokalaemia

Answer 199

It is associated with normotension ## Footnote Other causes like Conn's, Cushing's, and Liddle's syndrome are associated with hypertension

Answer 200

They inhibit NKCC2 ## Footnote Bartter's syndrome can be thought of as similar to taking large doses of furosemide

Answer 201

Usually presents in childhood ## Footnote Symptoms can include failure to thrive

Answer 202

* Failure to thrive * Polyuria * Polydipsia * Hypokalaemia * Normotension * Weakness ## Footnote These features can vary in presentation

Answer 203

False ## Footnote It is associated with normotension

Answer 204

A group of autosomal recessive disorders that impair adrenal steroid biosynthesis

Answer 205

Compensatory overproduction of adrenocorticotropic hormone (ACTH) by the anterior pituitary

Answer 206

Increase the production of adrenal androgens

Answer 207

Virilization and ambiguous genitalia

Answer 208

21-hydroxylase deficiency (90%)

Answer 209

Conversion of 17-hydroxyprogesterone to 11-deoxycortisol

Answer 210

Cortisol deficiency and excess androgen production

Answer 211

11-beta hydroxylase deficiency (5%)

Answer 212

Hypertension due to excess deoxycorticosterone

Answer 213

17-hydroxylase deficiency

Answer 214

Mineralocorticoid excess with low androgen and estrogen levels

Answer 215

Depending on the specific enzyme deficiency and the severity of the disorder

Answer 216

Ambiguous genitalia due to excessive androgen exposure in utero

Answer 217

Appear normal, which can delay diagnosis

Answer 218

Male infants appear normal at birth, which can delay diagnosis

Answer 219

A severe form occurring in about 75% of cases with 21-hydroxylase deficiency, characterized by dehydration, hypotension, and electrolyte imbalances

Answer 220

It can be life-threatening

Answer 221

Excess androgens can lead to early development of secondary sexual characteristics in both males and females

Answer 222

Infertility due to hormonal imbalances

Answer 223

Accelerated growth rates initially but may have a shorter adult stature due to early epiphyseal closure

Answer 224

Looking for elevated levels of serum concentration of 17-hydroxyprogesterone (17OHP)

Answer 225

No, it is not yet done in the UK

Answer 226

To evaluate the adrenal gland's response to ACTH, with abnormal increases in 17OHP indicating CAH

Answer 227

Glucocorticoid replacement to reduce ACTH levels and minimize adrenal androgen production

Answer 228

Fludrocortisone

Answer 229

precocious puberty

Answer 230

Virilisation of female genitalia ## Footnote This condition leads to the development of male characteristics in genetically female infants.

Answer 231

60-70% ## Footnote A salt-losing crisis typically occurs at 1-3 weeks of age in affected infants.

Answer 232

Hypertension ## Footnote This condition can lead to high blood pressure due to adrenal hormone imbalances.

Answer 233

* Virilisation of female genitalia * Hypokalaemia ## Footnote Hypokalaemia refers to low potassium levels in the blood.

Answer 234

Non-virilising ## Footnote This means that females do not develop male characteristics.

Answer 235

Inter-sex ## Footnote This condition can result in ambiguous genitalia in male infants.

Answer 236

Virilisation of female genitalia ## Footnote Both conditions lead to the development of male characteristics in genetically female infants.

Answer 237

Hypertension

Answer 238

A condition affecting around 1 in 4000 babies that, if not diagnosed and treated within the first four weeks, causes irreversible cognitive impairment ## Footnote Congenital hypothyroidism is a serious condition that can have lasting effects on a child's development.

Answer 239

• Prolonged neonatal jaundice • Delayed mental & physical milestones • Short stature • Puffy face • Macroglossia • Hypotonia ## Footnote These features can help in early identification of the condition.

Answer 240

5-7 days ## Footnote Screening is typically done using the heel prick test.

Answer 241

False ## Footnote Diagnosis and treatment must occur within the first four weeks to prevent irreversible cognitive impairment.

Answer 242

4000 ## Footnote This statistic highlights the rarity of the condition.

Answer 243

• Fasting glucose ≥ 7.0 mmol/l • Random glucose ≥ 11.1 mmol/l (or after 75g oral glucose tolerance test) ## Footnote Symptoms may include polyuria and polydipsia.

Answer 244

The criteria must be demonstrated on two separate occasions. ## Footnote This ensures the accuracy of the diagnosis.

Answer 245

HbA1c ≥ 48 mmol/mol (6.5%) ## Footnote Values below this do not exclude diabetes.

Answer 246

In patients without symptoms. ## Footnote This helps ensure the reliability of the diagnosis.

Answer 247

• Increased red cell turnover • Haemoglobinopathies • Haemolytic anaemia • Untreated iron deficiency anaemia • Suspected gestational diabetes • Children • HIV • Chronic kidney disease • Medications causing hyperglycaemia (e.g., corticosteroids) ## Footnote These conditions can affect the accuracy of HbA1c measurements.

Answer 248

HbA1c <= 41 mmol/mol (5.9%) ## Footnote Values above this indicate prediabetes or diabetes.

Answer 249

HbA1c 42-47 mmol/mol (6.0-6.4%) ## Footnote Fasting glucose levels can also indicate prediabetes.

Answer 250

7.0 mmol/l ## Footnote This is a key diagnostic threshold.

Answer 251

False ## Footnote The threshold for random glucose is ≥ 11.1 mmol/l.

Answer 252

Fasting glucose ≥ 7.0 mmol/l ## Footnote This is a critical value for diagnosis.

Answer 253

• Impaired fasting glucose • Impaired glucose tolerance ## Footnote These conditions are precursors to diabetes.

Answer 254

A fasting glucose greater than or equal to 6.1 but less than 7.0 mmol/l

Answer 255

Fasting plasma glucose less than 7.0 mmol/l and OGTT 2-hour value greater than or equal to 7.8 mmol/l but less than 11.1 mmol/l

Answer 256

Offer an oral glucose tolerance test to rule out a diagnosis of diabetes

Answer 257

A result below 11.1 mmol/l but above 7.8 mmol/l

Answer 258

A fasting glucose greater than or equal to 6.1 but less than 7.0 mmol/l

Answer 259

Fasting plasma glucose less than 7.0 mmol/l and OGTT 2-hour value greater than or equal to 7.8 mmol/l but less than 11.1 mmol/l

Answer 260

Offer an oral glucose tolerance test to rule out a diagnosis of diabetes

Answer 261

* Finger-prick bedside glucose monitor * One-off blood glucose (fasting or non-fasting) * HbA1c (measures average glucose over 2-3 months) * Glucose tolerance test (fasting glucose followed by 75g glucose load and a second reading after 2 hours)

Answer 262

Greater than or equal to 7.0 mmol/l

Answer 263

Greater than or equal to 11.1 mmol/l (or after 75g oral glucose tolerance test)

Answer 264

Criteria must be demonstrated on two separate occasions

Answer 265

Greater than or equal to 6.5% (48 mmol/mol)

Answer 266

Greater than or equal to 6.5% (48 mmol/mol)

Answer 267

The test must be repeated

Answer 268

Increased red cell turnover

Answer 269

* Finger-prick bedside glucose monitor * One-off blood glucose (fasting or non-fasting) * HbA1c (measures average glucose over 2-3 months) * Glucose tolerance test (fasting glucose followed by 75g glucose load and a second reading after 2 hours)

Answer 270

Greater than or equal to 7.0 mmol/l

Answer 271

Greater than or equal to 11.1 mmol/l (or after 75g oral glucose tolerance test)

Answer 272

Criteria must be demonstrated on two separate occasions

Answer 273

The test must be repeated

Answer 274

An autoimmune disorder where the insulin-producing beta cells of the islets of Langerhans in the pancreas are destroyed by the immune system

Answer 275

An absolute deficiency of insulin resulting in raised glucose levels

Answer 276

In childhood/early adult life

Answer 277

Patients may present unwell, possibly in diabetic ketoacidosis

Answer 278

The most common cause of diabetes in the developed world caused by a relative deficiency of insulin due to an excess of adipose tissue

Answer 279

Not enough insulin to 'go around' all the excess fatty tissue, leading to blood glucose creeping up

Answer 280

A term for patients who don't yet meet the criteria for a formal diagnosis of T2DM but are likely to develop the condition over the next few years

Answer 281

Closer monitoring and lifestyle interventions such as weight loss

Answer 282

A condition where some pregnant women develop raised glucose levels during pregnancy

Answer 283

Untreated gestational diabetes may lead to complications

Answer 284

An autoimmune disorder where the insulin-producing beta cells of the islets of Langerhans in the pancreas are destroyed by the immune system

Answer 285

An absolute deficiency of insulin resulting in raised glucose levels

Answer 286

In childhood/early adult life

Answer 287

Patients may present unwell, possibly in diabetic ketoacidosis

Answer 288

The most common cause of diabetes in the developed world caused by a relative deficiency of insulin due to an excess of adipose tissue

Answer 289

Not enough insulin to 'go around' all the excess fatty tissue, leading to blood glucose creeping up

Answer 290

Closer monitoring and lifestyle interventions such as weight loss

Answer 291

A condition where some pregnant women develop raised glucose levels during pregnancy

Answer 292

Maturity onset diabetes of the young

Answer 293

Inherited genetic disorders affecting the production of insulin

Answer 294

Asymptomatic hyperglycaemia with progression to more severe complications such as diabetic ketoacidosis

Answer 295

Latent autoimmune diabetes in adults

Answer 296

Younger in life

Answer 297

Type 2 diabetes mellitus (T2DM)

Answer 298

Any pathological process which damages the insulin-producing cells of the pancreas

Answer 299

* Chronic pancreatitis * Haemochromatosis

Answer 300

Glucocorticoids

Answer 301

Inherited genetic disorders affecting the production of insulin

Answer 302

Asymptomatic hyperglycaemia with progression to more severe complications such as diabetic ketoacidosis

Answer 303

Younger in life

Answer 304

Type 2 diabetes mellitus (T2DM)

Answer 305

Any pathological process which damages the insulin-producing cells of the pancreas

Answer 306

* Chronic pancreatitis * Haemochromatosis

Answer 307

Direct replacement for endogenous insulin

Answer 308

Subcutaneous

Answer 309

* Hypoglycaemia * Weight gain * Lipodystrophy

Answer 310

* Increases insulin sensitivity * Decreases hepatic gluconeogenesis

Answer 311

* Gastrointestinal upset * Lactic acidosis

Answer 312

Hypoglycaemia

Answer 313

Direct replacement for endogenous insulin

Answer 314

* Increases insulin sensitivity * Decreases hepatic gluconeogenesis

Answer 315

* Gastrointestinal upset * Lactic acidosis

Answer 316

Hypoglycaemia

Answer 317

Stimulate pancreatic beta cells to secrete insulin

Answer 318

Activate PPAR-gamma receptor in adipocytes to promote adipogenesis and fatty acid uptake

Answer 319

Increases incretin levels which inhibit glucagon secretion

Answer 320

Inhibits reabsorption of glucose in the kidney

Answer 321

Incretin mimetic which inhibits glucagon secretion

Answer 322

Subcutaneous

Answer 323

Hypoglycaemia

Answer 324

Weight gain

Answer 325

Hyponatraemia

Answer 326

Urinary tract infection

Answer 327

Nausea and vomiting

Answer 328

Fluid retention

Answer 329

Increased risk of pancreatitis

Answer 330

The principle of managing diabetes mellitus includes: * Drug therapy to normalise blood glucose levels * Monitoring for and treating any complications related to diabetes * Modifying any other risk factors for other conditions such as cardiovascular disease ## Footnote These principles ensure comprehensive care for diabetes patients.

Answer 331

Patients with Type 1 diabetes always require insulin to control blood sugar levels due to an absolute deficiency of insulin. ## Footnote There is no pancreatic tissue left to stimulate with drugs.

Answer 332

Different types of insulin are available according to their duration of action. ## Footnote This affects how quickly and how long insulin works in the body.

Answer 333

The majority of patients with Type 2 diabetes are controlled using oral medication. ## Footnote This includes lifestyle modifications alongside medication.

Answer 334

The first-line drug for the vast majority of patients with Type 2 diabetes is metformin. ## Footnote Metformin helps to lower blood sugar levels and improve insulin sensitivity.

Answer 335

Second-line drugs include: * Sulfonylureas * Gliptins * Pioglitazone ## Footnote These are used when metformin alone is insufficient.

Answer 336

If oral medication is not controlling the blood glucose to a sufficient degree, then insulin is used. ## Footnote This indicates a progression in treatment strategies for diabetes management.

Answer 337

An important complication of diabetes mellitus that should be screened for regularly ## Footnote NICE produced guidelines relating to diabetic foot disease in 2015.

Answer 338

* Neuropathy * Peripheral arterial disease

Answer 339

Loss of protective sensation ## Footnote Example: not noticing a stone in the shoe

Answer 340

A condition that can occur due to neuropathy in diabetic foot disease

Answer 341

* Loss of sensation

Answer 342

* Absent foot pulses * Reduced ankle-brachial pressure index (ABPI) * Intermittent claudication

Answer 343

* Calluses * Ulceration * Charcot's arthropathy * Cellulitis * Osteomyelitis * Gangrene

Answer 344

At least annually

Answer 345

Palpating for both the dorsalis pedis pulse and posterior tibial artery pulse

Answer 346

A 10 g monofilament

Answer 347

To risk stratify patients

Answer 348

No risk factors except callus ## Footnote This includes no deformity or previous ulceration.

Answer 349

• Deformity or previous ulceration • Neuropathy • Non-critical limb ischaemia • Neuropathy and non-critical limb ischaemia together ## Footnote Patients with moderate risk should be monitored regularly.

Answer 350

• Previous amputation • On renal replacement therapy • Neuropathy in combination with callus and/or deformity • Non-critical limb ischaemia in combination with callus and/or deformity ## Footnote High-risk patients require regular follow-up.

Answer 351

Regular follow-up by the local diabetic foot centre ## Footnote This applies to any problems other than simple calluses.

Answer 352

False ## Footnote Simple calluses alone do not classify a patient as at risk.

Answer 353

moderate or high risk ## Footnote This includes those with any problems other than simple calluses.

Answer 354

An X-linked recessive condition resulting in end-organ resistance to testosterone, causing genotypically male children (46XY) to have a female phenotype. ## Footnote Affected individuals have a rudimentary vagina and testes but no uterus.

Answer 355

Defect in androgen receptor

Answer 356

Elevated testosterone, oestrogen, and LH levels

Answer 357

An autosomal recessive condition resulting in the inability of males to convert testosterone to dihydrotestosterone (DHT). ## Footnote This condition leads to ambiguous genitalia in the newborn period.

Answer 358

Ambiguous genitalia

Answer 359

Hypospadias

Answer 360

Virilization occurs

Answer 361

External genitalia are female or ambiguous

Answer 362

A condition where individuals have testes but external genitalia are female or ambiguous, which may be secondary to androgen insensitivity syndrome. ## Footnote This term encompasses various conditions, including androgen insensitivity and 5-a reductase deficiency.

Answer 363

An individual has ovaries but external genitalia that are male (virilized) or ambiguous ## Footnote May be secondary to congenital adrenal hyperplasia

Answer 364

A condition where both ovarian and testicular tissue are present ## Footnote Very rare

Answer 365

46 XX or 47 XXY

Answer 366

An individual has ovaries but external genitalia that are male (virilized) or ambiguous ## Footnote May be secondary to congenital adrenal hyperplasia

Answer 367

46 XX or 47 XXY

Answer 368

A cause of delayed puberty secondary to hypogonadotrophic hypogonadism ## Footnote It is usually inherited as an X-linked recessive trait.

Answer 369

Lack of smell (anosmia) in a boy with delayed puberty

Answer 370

* Delayed puberty * Hypogonadism * Cryptorchidism * Anosmia * Low sex hormone levels * Inappropriately low/normal LH and FSH levels * Typically normal or above average height

Answer 371

Cleft lip/palate and visual/hearing defects

Answer 372

An X-linked recessive condition due to end-organ resistance to testosterone

Answer 373

Female phenotype

Answer 374

Complete androgen insensitivity syndrome

Answer 375

A cause of delayed puberty secondary to hypogonadotrophic hypogonadism ## Footnote It is usually inherited as an X-linked recessive trait.

Answer 376

Failure of GnRH-secreting neurons to migrate to the hypothalamus

Answer 377

* Delayed puberty * Hypogonadism * Cryptorchidism * Anosmia * Low sex hormone levels * Inappropriately low/normal LH and FSH levels * Typically normal or above average height

Answer 378

Cleft lip/palate and visual/hearing defects

Answer 379

An X-linked recessive condition due to end-organ resistance to testosterone

Answer 380

Complete androgen insensitivity syndrome

Answer 381

An X-linked recessive condition due to end-organ resistance to testosterone causing genotypically male children (46XY) to have a female phenotype ## Footnote Complete androgen insensitivity syndrome is also known as testicular feminisation syndrome.

Answer 382

• Primary amenorrhoea • Undescended testes causing groin swellings • Breast development may occur as a result of conversion of testosterone to oestradiol

Answer 383

Buccal smear or chromosomal analysis to reveal 46XY genotype

Answer 384

• Counselling - raise child as female • Bilateral orchidectomy • Oestrogen therapy

Answer 385

testicular feminisation syndrome

Answer 386

A defect in the thiazide-sensitive Na+ Cl- transporter in the distal convoluted tubule. ## Footnote Gitelman's syndrome is characterized by metabolic abnormalities, including hypomagnesaemia and hypokalaemia.

Answer 387

* Hypokalaemia * Hypomagnesaemia * Hypocalciuria * Metabolic alkalosis ## Footnote These imbalances result from the defect in the Na+ Cl- transporter.

Answer 388

Normotension ## Footnote This condition is characterized by elevated blood glucose levels without significant ketoacidosis.

Answer 389

True ## Footnote Causes of hypercalcaemia include primary hyperparathyroidism, malignancy, and vitamin D intoxication.

Answer 390

* Sweating * Hunger * Palpitations * Confusion ## Footnote Hypoglycaemia symptoms can vary and may include neuroglycopenic symptoms as well.

Answer 391

* Hyperthyroidism * Goiter * Eye changes (exophthalmos) ## Footnote Graves' disease is an autoimmune disorder that leads to excessive thyroid hormone production.

Answer 392

[hypokalaemia] ## Footnote Hypokalaemia is a defining feature of Gitelman's syndrome due to the renal losses.

Answer 393

Thiazide-sensitive Na+ Cl- transporter in the distal convoluted tubule. ## Footnote This defect leads to electrolyte imbalances and metabolic issues.

Answer 394

It is a result of the renal loss of potassium and hydrogen ions. ## Footnote Metabolic alkalosis occurs due to the body's compensatory mechanisms in response to hypokalaemia.

Answer 395

Glucagonomas are small tumours, almost always found in the pancreas, and frequently malignant.

Answer 396

They arise from the alpha cells of the pancreas.

Answer 397

They present with diabetes mellitus, venous thrombo-embolism, and the classical rash of necrolytic migratory erythema - a red, blistering rash.

Answer 398

A serum level of glucagon > 1000pg/ml usually suggests the diagnosis.

Answer 399

Imaging with CT scanning is also required.

Answer 400

Treatment options include surgical resection and octreotide.

Answer 401

An autoimmune thyroid disease where the body produces IgG antibodies to the TSH receptor ## Footnote It is the most common cause of thyrotoxicosis.

Answer 402

Women aged 30-50 years

Answer 403

Increased metabolism, weight loss, heat intolerance, palpitations, and anxiety ## Footnote Specific features may vary among patients.

Answer 404

Exophthalmos and ophthalmoplegia ## Footnote Eye signs occur in 30% of patients.

Answer 405

A skin condition seen in Graves' disease characterized by swelling on the shins

Answer 406

A triad of digital clubbing, soft tissue swelling of hands and feet, and periosteal new bone formation

Answer 407

Diffuse, homogenous, increased uptake of radioactive iodine

Answer 408

An autoimmune thyroid disease where the body produces IgG antibodies to the TSH receptor ## Footnote It is the most common cause of thyrotoxicosis.

Answer 409

Women aged 30-50 years

Answer 410

Increased metabolism, weight loss, heat intolerance, palpitations, and anxiety ## Footnote Specific features may vary among patients.

Answer 411

A skin condition seen in Graves' disease characterized by swelling on the shins

Answer 412

A triad of digital clubbing, soft tissue swelling of hands and feet, and periosteal new bone formation

Answer 413

Diffuse, homogenous, increased uptake of radioactive iodine

Answer 414

* Infancy (birth to 2-years-old) * Childhood (3 to 11-years-old) * Puberty (12 to 18-years-old)

Answer 415

Environmental factors, such as maternal nutrition and uterine capacity

Answer 416

* Environmental * Placental * Hormonal * Genetic (predominately maternal)

Answer 417

Nutrition and insulin

Answer 418

It leads to high fetal insulin production, resulting in hypoglycaemia and macrosomia

Answer 419

Growth isn't affected by growth hormone due to low receptor amounts

Answer 420

Growth hormone and thyroxine

Answer 421

Growth hormone and sex steroids

Answer 422

It is important for growth spurts

Answer 423

Genetic factors

Answer 424

[Nutrition and insulin]

Answer 425

3 to 11-years-old

Answer 426

There is no effect on growth

Answer 427

* Infancy (birth to 2-years-old) * Childhood (3 to 11-years-old) * Puberty (12 to 18-years-old)

Answer 428

Environmental factors, such as maternal nutrition and uterine capacity

Answer 429

* Environmental * Placental * Hormonal * Genetic (predominately maternal)

Answer 430

Nutrition and insulin

Answer 431

It leads to high fetal insulin production, resulting in hypoglycaemia and macrosomia

Answer 432

Growth isn't affected by growth hormone due to low receptor amounts

Answer 433

Growth hormone and thyroxine

Answer 434

Growth hormone and sex steroids

Answer 435

It is important for growth spurts

Answer 436

Genetic factors

Answer 437

[Nutrition and insulin]

Answer 438

3 to 11-years-old

Answer 439

There is no effect on growth

Answer 440

Goserelin ## Footnote Goserelin is used in hormone-sensitive conditions and can lead to changes in estrogen levels.

Answer 441

* Tricyclics * Isoniazid ## Footnote These drugs are less commonly associated with the development of gynaecomastia compared to others.

Answer 442

* Calcium channel blockers * Heroin * Busulfan * Methyldopa ## Footnote These medications have been reported to cause gynaecomastia, although they are considered very rare causes.

Answer 443

They can cause gynaecomastia ## Footnote Both estrogens and anabolic steroids can increase breast tissue due to their hormonal effects.

Answer 444

* Hormonal agents * Psychotropic medications ## Footnote Hormonal agents directly affect estrogen levels, while psychotropic medications can have indirect effects.

Answer 445

Spironolactone ## Footnote Spironolactone is a diuretic that can cause breast tissue enlargement in males.

Answer 446

* Spironolactone * Cimetidine * Digoxin ## Footnote These drugs are known to have hormonal effects that may lead to breast tissue development.

Answer 447

True ## Footnote Cannabis has been associated with hormonal changes that may contribute to gynaecomastia.

Answer 448

* Calcium channel blockers * Heroin * Busulfan * Methyldopa ## Footnote These medications have been reported to cause gynaecomastia, although they are considered very rare causes.

Answer 449

They can cause gynaecomastia ## Footnote Both estrogens and anabolic steroids can increase breast tissue due to their hormonal effects.

Answer 450

* Hormonal agents * Psychotropic medications ## Footnote Hormonal agents directly affect estrogen levels, while psychotropic medications can have indirect effects.

Answer 451

An abnormal amount of breast tissue in males, usually caused by an increased oestrogen:androgen ratio. ## Footnote It is important to differentiate the causes of galactorrhoea from those of gynaecomastia.

Answer 452

Normal in puberty. ## Footnote Gynaecomastia can be a common occurrence during puberty due to hormonal changes.

Answer 453

Kallmann's syndrome, Klinefelter's syndrome. ## Footnote These syndromes are characterized by various hormonal imbalances.

Answer 454

Testicular failure, e.g., mumps. ## Footnote Mumps can lead to orchitis, affecting testicular function.

Answer 455

Liver disease can disrupt hormone metabolism, leading to an increased oestrogen level. ## Footnote Liver dysfunction affects the clearance of hormones.

Answer 456

Testicular cancer, e.g., seminoma secreting hCG. ## Footnote Certain testicular tumors can secrete hormones that increase oestrogen levels.

Answer 457

Hormonal secretion from tumours located outside the usual endocrine glands, which can lead to gynaecomastia. ## Footnote Ectopic secretion can mimic normal hormone levels.

Answer 458

Hyperthyroidism. ## Footnote Increased thyroid hormone levels can alter the balance of sex hormones.

Answer 459

Haemodialysis can lead to hormonal imbalances that may result in gynaecomastia. ## Footnote The process can affect kidney function and hormone excretion.

Answer 460

Spironolactone. ## Footnote Spironolactone is a potassium-sparing diuretic that can increase oestrogen levels.

Answer 461

* Cimetidine * Digoxin ## Footnote Both medications have been associated with hormonal changes leading to gynaecomastia.

Answer 462

Cannabis. ## Footnote Cannabis use can lead to hormonal imbalances affecting breast tissue.

Answer 463

Finasteride. ## Footnote Finasteride affects hormone levels and can lead to breast tissue development.

Answer 464

GnRH agonists, e.g., goserelin, buserelin. ## Footnote These drugs influence the hormonal axis, potentially increasing oestrogen levels.

Answer 465

Oestrogens, anabolic steroids. ## Footnote Exogenous hormones can disrupt the natural balance of sex hormones.

Answer 466

An abnormal amount of breast tissue in males, usually caused by an increased oestrogen:androgen ratio. ## Footnote It is important to differentiate the causes of galactorrhoea from those of gynaecomastia.

Answer 467

Normal in puberty. ## Footnote Gynaecomastia can be a common occurrence during puberty due to hormonal changes.

Answer 468

Kallmann's syndrome, Klinefelter's syndrome. ## Footnote These syndromes are characterized by various hormonal imbalances.

Answer 469

Testicular failure, e.g., mumps. ## Footnote Mumps can lead to orchitis, affecting testicular function.

Answer 470

Liver disease can disrupt hormone metabolism, leading to an increased oestrogen level. ## Footnote Liver dysfunction affects the clearance of hormones.

Answer 471

Testicular cancer, e.g., seminoma secreting hCG. ## Footnote Certain testicular tumors can secrete hormones that increase oestrogen levels.

Answer 472

Hormonal secretion from tumours located outside the usual endocrine glands, which can lead to gynaecomastia. ## Footnote Ectopic secretion can mimic normal hormone levels.

Answer 473

Hyperthyroidism. ## Footnote Increased thyroid hormone levels can alter the balance of sex hormones.

Answer 474

Haemodialysis can lead to hormonal imbalances that may result in gynaecomastia. ## Footnote The process can affect kidney function and hormone excretion.

Answer 475

Spironolactone. ## Footnote Spironolactone is a potassium-sparing diuretic that can increase oestrogen levels.

Answer 476

* Cimetidine * Digoxin ## Footnote Both medications have been associated with hormonal changes leading to gynaecomastia.

Answer 477

Cannabis. ## Footnote Cannabis use can lead to hormonal imbalances affecting breast tissue.

Answer 478

Finasteride. ## Footnote Finasteride affects hormone levels and can lead to breast tissue development.

Answer 479

GnRH agonists, e.g., goserelin, buserelin. ## Footnote These drugs influence the hormonal axis, potentially increasing oestrogen levels.

Answer 480

Oestrogens, anabolic steroids. ## Footnote Exogenous hormones can disrupt the natural balance of sex hormones.

Answer 481

An autoimmune disorder of the thyroid gland typically associated with hypothyroidism. ## Footnote It may have a transient thyrotoxicosis in the acute phase.

Answer 482

10 times more common ## Footnote This prevalence highlights the gender disparity in autoimmune disorders.

Answer 483

* Features of hypothyroidism * Firm, non-tender goitre * Presence of anti-thyroid peroxidase (TPO) and anti-thyroglobulin (Tg) antibodies ## Footnote These features are critical for diagnosis.

Answer 484

* Coeliac disease * Type 1 diabetes mellitus * Vitiligo ## Footnote The association with other autoimmune diseases is significant for patient management.

Answer 485

MALT lymphoma ## Footnote MALT lymphoma is a type of cancer that affects the mucosa-associated lymphoid tissue.

Answer 486

Hashimoto's thyroiditis ## Footnote Other causes include iodine deficiency and subacute thyroiditis.

Answer 487

hypothyroidism

Answer 488

Firm and non-tender ## Footnote The goitre may vary in size and tenderness depending on the phase of the disease.

Answer 489

* Anti-thyroid peroxidase (TPO) * Anti-thyroglobulin (Tg) ## Footnote The presence of these antibodies is crucial for diagnosis.

Answer 490

Malignancy ## Footnote Malignancy may involve processes such as PTHrP secretion from tumors and bone metastases.

Answer 491

* PTHrP from the tumour (e.g., squamous cell lung cancer) * Bone metastases

Answer 492

Increased osteoclastic bone resorption due to local cytokines ## Footnote Cytokines such as IL-1 and tumour necrosis factor are released by myeloma cells.

Answer 493

Measuring parathyroid hormone levels

Answer 494

* Sarcoidosis * Tuberculosis

Answer 495

Vitamin D intoxication

Answer 496

* Thiazides * Calcium-containing antacids

Answer 497

Paget's disease of the bone

Answer 498

* Malignancy * Sarcoidosis * Vitamin D intoxication * Thyrotoxicosis * Milk-alkali syndrome * Thiazides * Calcium-containing antacids * Paget's disease of the bone

Answer 499

Non-thyroidal illness ## Footnote This term reflects the condition's association with systemic illness rather than primary thyroid disease.

Answer 500

Everything is low ## Footnote This statement is a simplification; in many cases, TSH remains within the normal range despite low levels of thyroxine and T3.

Answer 501

Within the normal range ## Footnote This is considered inappropriately normal given the low levels of thyroxine and T3.

Answer 502

Changes are reversible ## Footnote This characteristic underscores that no treatment is usually needed.

Answer 503

No ## Footnote Treatment is typically unnecessary as the condition resolves with recovery from the underlying systemic illness.

Answer 504

Adrenal gland failure secondary to a previous adrenal haemorrhage caused by severe bacterial infection ## Footnote This syndrome is associated with severe infections leading to adrenal insufficiency.

Answer 505

Neisseria meningitidis ## Footnote Other causes include Haemophilus influenzae, Pseudomonas aeruginosa, Escherichia coli, and Streptococcus pneumoniae.

Answer 506

* Lethargy * Weakness * Anorexia * Nausea & vomiting * Weight loss * Hyperpigmentation (especially palmar creases) * Vitiligo * Loss of pubic hair in women ## Footnote These symptoms reflect the adrenal insufficiency present in the syndrome.

Answer 507

* Collapse * Shock * Pyrexia ## Footnote These crisis symptoms indicate severe adrenal crisis due to the syndrome.

Answer 508

Adrenal gland failure secondary to a previous adrenal haemorrhage caused by severe bacterial infection ## Footnote This syndrome is associated with severe infections leading to adrenal insufficiency.

Answer 509

* Collapse * Shock * Pyrexia ## Footnote These crisis symptoms indicate severe adrenal crisis due to the syndrome.

Answer 510

To evaluate patients who have polydipsia ## Footnote Polydipsia is excessive thirst, which often leads to increased fluid intake.

Answer 511

Prevent the patient from drinking water ## Footnote This is essential to assess the body's ability to concentrate urine under conditions of dehydration.

Answer 512

Empty their bladder ## Footnote This allows for accurate measurement of urine osmolality.

Answer 513

Hourly ## Footnote This regular monitoring helps track changes in osmolality as dehydration progresses.

Answer 514

Normal ## Footnote Normal plasma osmolarity typically ranges between 275 and 295 mOsm/kg.

Answer 515

> 600 ## Footnote This suggests that the kidneys are able to concentrate urine effectively.

Answer 516

> 400 ## Footnote In psychogenic polydipsia, the body still retains some ability to concentrate urine despite excessive fluid intake.

Answer 517

> 600 ## Footnote This indicates that the kidneys can concentrate urine when stimulated with DDAVP (desmopressin).

Answer 518

< 300 ## Footnote Nephrogenic diabetes insipidus occurs when the kidneys are unable to respond to antidiuretic hormone (ADH).

Answer 519

False ## Footnote Nephrogenic diabetes insipidus is characterized by the inability to concentrate urine, resulting in low urine osmolarity.

Answer 520

Graves' disease ## Footnote Graves' disease is an autoimmune disorder that leads to hyperthyroidism.

Answer 521

* Toxic nodular goitre * Acute phase of subacute (De Quervain's) thyroiditis * Acute phase of post-partum thyroiditis

Answer 522

False ## Footnote Administration of iodinated contrast can lead to hyperthyroidism in these patients.

Answer 523

Hyperthyroidism developing over 2-12 weeks ## Footnote This is due to a large iodine load to the thyroid.

Answer 524

* TSH down * T4 and T3 up * Thyroid autoantibodies

Answer 525

Post-partum

Answer 526

Hashimoto's thyroiditis ## Footnote Hashimoto's thyroiditis typically leads to hypothyroidism but may have an initial thyrotoxic phase.

Answer 527

Thyrotoxicosis ## Footnote Amiodarone can cause thyroid dysfunction due to its high iodine content.

Answer 528

It is better ## Footnote Iodine deficiency can lead to hypothyroidism, but the body often compensates initially.

Answer 529

A condition where the thyroid gland produces excess thyroid hormones ## Footnote Hyperthyroidism can lead to symptoms such as weight loss, heat intolerance, and increased heart rate.

Answer 530

Triiodothyronine (T3) ## Footnote T3 is the most biologically active form of thyroid hormone.

Answer 531

Thyroxine (T4) ## Footnote T4 is converted to T3 in target tissues.

Answer 532

Lowers plasma calcium ## Footnote Calcitonin is secreted by parafollicular cells of the thyroid gland.

Answer 533

Thyroid actively concentrates iodide to twenty-five times the plasma concentration ## Footnote This process is crucial for the production of T3 and T4.

Answer 534

Thyroid Stimulating Hormone (TSH) ## Footnote TSH is released from the anterior pituitary gland.

Answer 535

Approximately 3 months ## Footnote This reserve allows for consistent hormone levels in the body.

Answer 536

TSH receptors on the thyroid gland ## Footnote This leads to chronic stimulation of the thyroid gland.

Answer 537

Raised thyroid hormones and low TSH ## Footnote This pattern is due to the negative feedback mechanism.

Answer 538

Thyroid receptor autoantibodies ## Footnote These are present in up to 85% of cases of Graves' disease.

Answer 539

peroxidase ## Footnote This is a crucial step in the synthesis of thyroid hormones.

Answer 540

T3 and T4 ## Footnote These hormones are formed through the coupling of iodinated tyrosine residues.

Answer 541

10% malignant ## Footnote Additionally, 10% are multiple insulinomas.

Answer 542

Multiple Endocrine Neoplasia type 1 (MEN-1) ## Footnote 50% of patients with multiple tumours have MEN-1.

Answer 543

Symptoms typically occur early in the morning or just before a meal, including: * diplopia * weakness ## Footnote Rapid weight gain may also be seen.

Answer 544

High insulin, raised proinsulin:insulin ratio, and high C-peptide ## Footnote These findings are indicative of insulinoma.

Answer 545

Supervised, prolonged fasting (up to 72 hours) ## Footnote CT pancreas may also be used.

Answer 546

Surgery ## Footnote Diazoxide and somatostatin are alternatives for patients not candidates for surgery.

Answer 547

[insulinoma]

Answer 548

* A ventral urethral meatus * A hooded prepuce * Chordee (ventral curvature of the penis) in more severe forms * The urethral meatus may open more proximally in more severe variants ## Footnote 75% of the openings are distally located.

Answer 549

Hypospadias most commonly occurs as an isolated disorder ## Footnote Associated conditions include cryptorchidism (present in 10%) and inguinal hernia.

Answer 550

Infants should be referred to specialist services.

Answer 551

Around 12 months of age.

Answer 552

The foreskin may be used in the corrective procedure.

Answer 553

No treatment may be needed.

Answer 554

Decrease PTH secretion ## Footnote Commonly secondary to thyroid surgery.

Answer 555

* Tetany: muscle twitching, cramping and spasm * Chvostek's sign: facial muscle twitching when tapping over the parotid * Chronic symptoms: depression, cataracts * ECG changes: prolonged QT interval

Answer 556

Tapping over the parotid causes facial muscles to twitch

Answer 557

Low calcium levels lead to symptoms of hypoparathyroidism

Answer 558

Target cells being insensitive to PTH ## Footnote Associated with short stature and shortened 4th and 5th metacarpals.

Answer 559

Both cAMP and phosphate levels increase

Answer 560

Neither cAMP nor phosphate levels are increased

Answer 561

Only cAMP levels rise

Answer 562

Similar phenotype to pseudohypoparathyroidism but with normal biochemistry

Answer 563

Causes carpal spasm

Answer 564

Decrease PTH secretion ## Footnote Commonly secondary to thyroid surgery.

Answer 565

* Tetany: muscle twitching, cramping and spasm * Chvostek's sign: facial muscle twitching when tapping over the parotid * Chronic symptoms: depression, cataracts * ECG changes: prolonged QT interval

Answer 566

Tapping over the parotid causes facial muscles to twitch

Answer 567

Low calcium levels lead to symptoms of hypoparathyroidism

Answer 568

Target cells being insensitive to PTH ## Footnote Associated with short stature and shortened 4th and 5th metacarpals.

Answer 569

Both cAMP and phosphate levels increase

Answer 570

Neither cAMP nor phosphate levels are increased

Answer 571

Only cAMP levels rise

Answer 572

Similar phenotype to pseudohypoparathyroidism but with normal biochemistry

Answer 573

Causes carpal spasm

Answer 574

Autosomal dominant disorder

Answer 575

MEN type I, MEN type IIa, MEN type IIb

Answer 576

* Parathyroid * Pituitary * Pancreas

Answer 577

Hypercalcaemia

Answer 578

Insulinoma, gastrinoma

Answer 579

* Parathyroid * Phaeochromocytoma

Answer 580

RET oncogene

Answer 581

* Medullary thyroid cancer * Phaeochromocytoma * Marfanoid body habitus * Neuromas

Answer 582

RET oncogene

Answer 583

Recurrent peptic ulceration

Answer 584

A type of cancer that arises from neural crest tissue, primarily affecting children ## Footnote Neuroblastoma is one of the top five causes of cancer in children, accounting for around 7-8% of childhood malignancies.

Answer 585

Adrenal medulla ## Footnote Neuroblastoma can also arise from the sympathetic nervous system.

Answer 586

Around 20 months

Answer 587

* Abdominal mass * Pallor * Weight loss * Bone pain * Limp * Hepatomegaly * Paraplegia * Proptosis

Answer 588

* Biopsy * Raised urinary vanillylmandelic acid (VMA) * Raised homovanillic acid (HVA) * Calcification on abdominal x-ray

Answer 589

BMI = weight (kg) / height (m) squared

Answer 590

Conservative: diet, exercise

Answer 591

Pancreatic lipase inhibitor

Answer 592

* Faecal urgency/incontinence * Flatulence

Answer 593

* BMI of 28 kg/m^2 or more with associated risk factors * BMI of 30 kg/m^2 or more * Continued weight loss e.g. 5% at 3 months

Answer 594

A glucagon-like peptide-1 (GLP-1) mimetic

Answer 595

Once daily subcutaneous injection

Answer 596

Type 2 diabetes mellitus (T2DM)

Answer 597

Caused weight loss in a significant proportion

Answer 598

Person has a BMI of at least 35 kg/m^2

Answer 599

Leptin ## Footnote Leptin acts on satiety centres in the hypothalamus and decreases appetite.

Answer 600

Increases leptin levels ## Footnote More adipose tissue, as seen in obesity, results in higher levels of leptin.

Answer 601

Melanocyte-stimulating hormone (MSH) and corticotrophin-releasing hormone (CRH) ## Footnote Leptin stimulates their release to help regulate appetite.

Answer 602

Neuropeptide Y (NPY) ## Footnote Low levels of leptin trigger the release of NPY, which stimulates appetite.

Answer 603

Stimulates hunger ## Footnote Ghrelin is known as the hunger hormone.

Answer 604

P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas ## Footnote These locations are crucial for ghrelin secretion.

Answer 605

Increase before meals and decrease after meals ## Footnote This pattern helps regulate hunger and satiety.

Answer 606

False ## Footnote Leptin induces satiety, while ghrelin stimulates hunger.

Answer 607

Increases leptin levels ## Footnote More adipose tissue, as seen in obesity, results in higher levels of leptin.

Answer 608

Melanocyte-stimulating hormone (MSH) and corticotrophin-releasing hormone (CRH) ## Footnote Leptin stimulates their release to help regulate appetite.

Answer 609

Neuropeptide Y (NPY) ## Footnote Low levels of leptin trigger the release of NPY, which stimulates appetite.

Answer 610

Stimulates hunger ## Footnote Ghrelin is known as the hunger hormone.

Answer 611

P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas ## Footnote These locations are crucial for ghrelin secretion.

Answer 612

Increase before meals and decrease after meals ## Footnote This pattern helps regulate hunger and satiety.

Answer 613

False ## Footnote Leptin induces satiety, while ghrelin stimulates hunger.

Answer 614

A rare catecholamine secreting tumour

Answer 615

* MEN type II * Neurofibromatosis * Von Hippel-Lindau syndrome

Answer 616

Organ of Zuckerkandl, adjacent to the bifurcation of the aorta

Answer 617

* Hypertension (around 90% of cases, may be sustained) * Headaches * Palpitations * Sweating * Anxiety

Answer 618

24 hr urinary collection of metanephrines

Answer 619

24 hr urinary collection of catecholamines

Answer 620

* Alpha-blocker (e.g. phenoxybenzamine) * Beta-blocker (e.g. propranolol)

Answer 621

A rare catecholamine secreting tumour

Answer 622

* MEN type II * Neurofibromatosis * Von Hippel-Lindau syndrome

Answer 623

Organ of Zuckerkandl, adjacent to the bifurcation of the aorta

Answer 624

* Hypertension (around 90% of cases, may be sustained) * Headaches * Palpitations * Sweating * Anxiety

Answer 625

24 hr urinary collection of metanephrines

Answer 626

24 hr urinary collection of catecholamines

Answer 627

* Alpha-blocker (e.g. phenoxybenzamine) * Beta-blocker (e.g. propranolol)

Answer 628

A condition characterised by decreased secretion of antidiuretic hormone (ADH) or insensitivity to ADH

Answer 629

Cranial DI and Nephrogenic DI

Answer 630

* Idiopathic * Post head injury * Pituitary surgery * Craniopharyngiomas * Infiltrative diseases (e.g., histiocytosis X, sarcoidosis) * DIDMOAD syndrome * Haemochromatosis

Answer 631

* Vasopressin receptor mutation * Mutation in aquaporin 2 channel

Answer 632

* Polyuria * Polydipsia

Answer 633

High plasma osmolality, low urine osmolality

Answer 634

A urine osmolality of >700 mOsm/kg

Answer 635

To evaluate patients who have polydipsia

Answer 636

* Thiazides * Low salt/protein diet

Answer 637

Desmopressin

Answer 638

A complication of diabetes characterized by uncontrolled lipolysis leading to ketone body formation

Answer 639

* Infection * Missed insulin doses * Myocardial infarction

Answer 640

* Glucose > 13.8 mmol/l * pH < 7.30 * Serum bicarbonate < 18 mmol/l * Anion gap > 10 * Ketonaemia

Answer 641

* Fluid replacement * Insulin therapy * Correction of electrolyte disturbances

Answer 642

0.9% sodium chloride solution given in progressively decreasing volumes over several hours

Answer 643

* pH > 7.3 * Blood ketones < 0.6 mmol/L * Bicarbonate > 15.0 mmol/L

Answer 644

* Gastric stasis * Thromboembolism * Arrhythmias * Cerebral oedema * Hypokalaemia * Hypoglycaemia * Acute respiratory distress syndrome * Acute kidney injury

Answer 645

A medical emergency characterized by severe hyperglycaemia and dehydration, typically in elderly patients with type 2 diabetes

Answer 646

Hyperglycaemia leads to increased serum osmolality and osmotic diuresis resulting in severe volume depletion

Answer 647

* Clinical signs of dehydration * Polyuria * Polydipsia * Lethargy * Altered level of consciousness

Answer 648

* Marked hyperglycaemia (>30 mmol/L) * Significantly raised serum osmolarity (> 320 mosmol/kg) * No significant hyperketonaemia (<3 mmol/L) * No significant acidosis (bicarbonate > 15 mmol/l or pH > 7.3)

Answer 649

Primary hyperparathyroidism

Answer 650

* Solitary adenoma (85%) * Hyperplasia (10%) * Multiple adenoma (4%) * Carcinoma (1%)

Answer 651

'Bones, stones, abdominal groans and psychic moans'

Answer 652

* Raised calcium * Low phosphate * PTH may be raised or normal * Technetium-MIBI subtraction scan * X-ray findings (e.g., pepperpot skull)

Answer 653

Total parathyroidectomy

Answer 654

Starting plasma osmolality normal, final urine osmolality normal

Answer 655

* Oedema * Polyuria * Lethargy * Pruritus * Anorexia * Insomnia * Nausea and vomiting * Hypertension

Answer 656

'Glove and stocking' distribution

Answer 657

* Amitriptyline * Duloxetine * Gabapentin * Pregabalin

Answer 658

* Erratic blood glucose control * Bloating * Vomiting

Answer 659

Chronic diarrhoea

Answer 660

Delayed gastric emptying

Answer 661

To exclude thyroid cancer, which accounts for around 5% of all nodules, depending on patient demographic.

Answer 662

* Multinodular goitre * Thyroid adenoma * Hashimoto's thyroiditis * Cysts (colloid, simple, or hemorrhagic)

Answer 663

* Papillary carcinoma * Follicular carcinoma * Medullary carcinoma * Anaplastic carcinoma * Lymphoma

Answer 664

Ultrasonography

Answer 665

A parathyroid adenoma, responsible in 85% of cases.

Answer 666

* 85%: solitary adenoma * 10%: hyperplasia * 4%: multiple adenoma * 1%: carcinoma

Answer 667

'Bones, stones, abdominal groans and psychic moans'

Answer 668

* Blood tests showing raised calcium and low phosphate * PTH may be raised or normal * Technetium-MIBI subtraction scan * X-ray findings (e.g., pepperpot skull, osteitis fibrosa cystica)

Answer 669

Total parathyroidectomy

Answer 670

A benign tumour of the pituitary gland.

Answer 671

* Size: microadenoma (<1cm) and macroadenoma (≥1cm) * Hormonal status: secretory/functioning and non-secretory/functioning

Answer 672

Prolactinomas

Answer 673

* Excess of a hormone * Depletion of a hormone(s) * Non-functioning tumors leading to generalised hypopituitarism * Headaches from stretching of the dura * Bitemporal hemianopia from optic chiasm compression

Answer 674

* Pituitary blood profile (GH, prolactin, ACTH, FSH, LSH, TFTs) * Formal visual field testing * MRI brain with contrast

Answer 675

Transsphenoidal surgery

Answer 676

* Primarily restrictive operations * Primarily malabsorptive operations * Mixed operations

Answer 677

* Underweight: < 18.49 * Normal: 18.5 - 25 * Overweight: 25 - 30 * Obese class 1: 30 - 35 * Obese class 2: 35 - 40 * Obese class 3: > 40

Answer 678

A pancreatic lipase inhibitor used in the management of obesity.

Answer 679

* Tetany (muscle twitching, cramping, spasm) * Perioral paraesthesia * Trousseau's sign * Chvostek's sign * Chronic symptoms: depression, cataracts

Answer 680

* Shivering * Cold and pale skin * Slurred speech * Confusion/impaired mental state

Answer 681

* Remove from cold environment * Warm with blankets * Secure airway and monitor breathing * Consider warm IV fluids if needed

Answer 682

A medical emergency characterized by hyperglycaemia, osmotic diuresis, severe dehydration, and electrolyte deficiencies.

Answer 683

* Polyuria * Polydipsia * Lethargy * Nausea and vomiting * Altered level of consciousness

Answer 684

Fluid replacement with IV 0.9% sodium chloride solution.

Answer 685

Ketonaemia is defined as having a level of ketones less than 3 mmol/L.

Answer 686

Bicarbonate level greater than 15 mmol/L or pH greater than 7.3.

Answer 687

Fluid losses in HHS are estimated to be between 100 - 220 ml/kg.

Answer 688

Typically given at 0.5 - 1 L/hour depending on clinical assessment.

Answer 689

Insulin should not be given unless blood glucose stops falling while giving IV fluids.

Answer 690

Patients are at risk of thrombosis.

Answer 691

* Myocardial infarction * Stroke

Answer 692

It is used to assess cardiovascular disease risk in patients aged <= 84 years.

Answer 693

* Type 1 diabetics * Patients with eGFR less than 60 ml/min and/or albuminuria * Patients with a history of familial hyperlipidaemia

Answer 694

Total cholesterol, HDL, and a full lipid profile including triglycerides.

Answer 695

The new cut-off is a 10-year CVD risk of 10% or greater.

Answer 696

Atorvastatin 20mg.

Answer 697

Consider statin treatment for primary prevention of CVD.

Answer 698

Atorvastatin 20mg should be offered.

Answer 699

All patients with CVD should be taking a statin.

Answer 700

Patients should be followed up at 3 months.

Answer 701

Total fat intake should be <= 30% of total energy intake.

Answer 702

At least 2 portions of fish per week, including a portion of oily fish.

Answer 703

At least 150 minutes of moderate-intensity aerobic activity or 75 minutes of vigorous-intensity aerobic activity each week.

Answer 704

Palmar xanthoma is associated with remnant hyperlipidaemia and may less commonly be seen in familial hypercholesterolaemia.

Answer 705

Eruptive xanthomas are due to high triglyceride levels.

Answer 706

* Surgical excision * Topical trichloroacetic acid * Laser therapy * Electrodesiccation

Answer 707

Statins inhibit the action of HMG-CoA reductase, the rate-limiting enzyme in hepatic cholesterol synthesis.

Answer 708

* Myopathy * Liver impairment * Potential increased risk of intracerebral hemorrhage

Answer 709

* Macrolides (e.g. erythromycin) * Pregnancy

Answer 710

* All people with established cardiovascular disease * Anyone with a 10-year cardiovascular risk >= 10% * Patients with type 2 diabetes mellitus * Patients with type 1 diabetes mellitus diagnosed more than 10 years ago or aged over 40 or with established nephropathy

Answer 711

Statins should be taken at night.

Answer 712

To exclude thyroid cancer, which accounts for around 5% of all nodules, depending on patient demographic.

Answer 713

* Multinodular goitre * Thyroid adenoma * Hashimoto's thyroiditis * Cysts (colloid, simple, or hemorrhagic)

Answer 714

* Papillary carcinoma * Follicular carcinoma * Medullary carcinoma * Anaplastic carcinoma * Lymphoma

Answer 715

Ultrasonography

Answer 716

A parathyroid adenoma, responsible in 85% of cases.

Answer 717

* 85%: solitary adenoma * 10%: hyperplasia * 4%: multiple adenoma * 1%: carcinoma

Answer 718

'Bones, stones, abdominal groans and psychic moans'

Answer 719

* Blood tests showing raised calcium and low phosphate * PTH may be raised or normal * Technetium-MIBI subtraction scan * X-ray findings (e.g., pepperpot skull, osteitis fibrosa cystica)

Answer 720

Total parathyroidectomy

Answer 721

A benign tumour of the pituitary gland.

Answer 722

* Size: microadenoma (<1cm) and macroadenoma (≥1cm) * Hormonal status: secretory/functioning and non-secretory/functioning

Answer 723

Prolactinomas

Answer 724

* Excess of a hormone * Depletion of a hormone(s) * Non-functioning tumors leading to generalised hypopituitarism * Headaches from stretching of the dura * Bitemporal hemianopia from optic chiasm compression

Answer 725

* Pituitary blood profile (GH, prolactin, ACTH, FSH, LSH, TFTs) * Formal visual field testing * MRI brain with contrast

Answer 726

Transsphenoidal surgery

Answer 727

* Primarily restrictive operations * Primarily malabsorptive operations * Mixed operations

Answer 728

* Underweight: < 18.49 * Normal: 18.5 - 25 * Overweight: 25 - 30 * Obese class 1: 30 - 35 * Obese class 2: 35 - 40 * Obese class 3: > 40

Answer 729

A pancreatic lipase inhibitor used in the management of obesity.

Answer 730

* Tetany (muscle twitching, cramping, spasm) * Perioral paraesthesia * Trousseau's sign * Chvostek's sign * Chronic symptoms: depression, cataracts

Answer 731

* Shivering * Cold and pale skin * Slurred speech * Confusion/impaired mental state

Answer 732

* Remove from cold environment * Warm with blankets * Secure airway and monitor breathing * Consider warm IV fluids if needed

Answer 733

A medical emergency characterized by hyperglycaemia, osmotic diuresis, severe dehydration, and electrolyte deficiencies.

Answer 734

* Polyuria * Polydipsia * Lethargy * Nausea and vomiting * Altered level of consciousness

Answer 735

Fluid replacement with IV 0.9% sodium chloride solution.

Answer 736

Ketonaemia is defined as having a level of ketones less than 3 mmol/L.

Answer 737

Bicarbonate level greater than 15 mmol/L or pH greater than 7.3.

Answer 738

Fluid losses in HHS are estimated to be between 100 - 220 ml/kg.

Answer 739

Typically given at 0.5 - 1 L/hour depending on clinical assessment.

Answer 740

Insulin should not be given unless blood glucose stops falling while giving IV fluids.

Answer 741

Patients are at risk of thrombosis.

Answer 742

* Myocardial infarction * Stroke

Answer 743

It is used to assess cardiovascular disease risk in patients aged <= 84 years.

Answer 744

* Type 1 diabetics * Patients with eGFR less than 60 ml/min and/or albuminuria * Patients with a history of familial hyperlipidaemia

Answer 745

Total cholesterol, HDL, and a full lipid profile including triglycerides.

Answer 746

The new cut-off is a 10-year CVD risk of 10% or greater.

Answer 747

Atorvastatin 20mg.

Answer 748

Consider statin treatment for primary prevention of CVD.

Answer 749

Atorvastatin 20mg should be offered.

Answer 750

All patients with CVD should be taking a statin.

Answer 751

Patients should be followed up at 3 months.

Answer 752

Total fat intake should be <= 30% of total energy intake.

Answer 753

At least 2 portions of fish per week, including a portion of oily fish.

Answer 754

At least 150 minutes of moderate-intensity aerobic activity or 75 minutes of vigorous-intensity aerobic activity each week.

Answer 755

Palmar xanthoma is associated with remnant hyperlipidaemia and may less commonly be seen in familial hypercholesterolaemia.

Answer 756

Eruptive xanthomas are due to high triglyceride levels.

Answer 757

* Surgical excision * Topical trichloroacetic acid * Laser therapy * Electrodesiccation

Answer 758

Statins inhibit the action of HMG-CoA reductase, the rate-limiting enzyme in hepatic cholesterol synthesis.

Answer 759

* Myopathy * Liver impairment * Potential increased risk of intracerebral hemorrhage

Answer 760

* Macrolides (e.g. erythromycin) * Pregnancy

Answer 761

* All people with established cardiovascular disease * Anyone with a 10-year cardiovascular risk >= 10% * Patients with type 2 diabetes mellitus * Patients with type 1 diabetes mellitus diagnosed more than 10 years ago or aged over 40 or with established nephropathy

Answer 762

Statins should be taken at night.

Answer 763

Bilateral idiopathic adrenal hyperplasia ## Footnote This accounts for around 60-70% of cases.

Answer 764

Adrenal adenoma (Conn's syndrome) ## Footnote This was believed to be the most common cause before recent studies.

Answer 765

* Bilateral idiopathic adrenal hyperplasia * Adrenal adenoma * Unilateral hyperplasia * Familial hyperaldosteronism * Adrenal carcinoma ## Footnote These causes vary in prevalence among patients.

Answer 766

Hypokalaemia ## Footnote This feature is reported in only 10-40% of patients and is more common with adrenal adenomas.

Answer 767

* Hypertension * Hypokalaemia * Metabolic alkalosis ## Footnote Hypertension is increasingly recognized but still underdiagnosed as a cause of hypertension.

Answer 768

Plasma aldosterone/renin ratio ## Footnote This should show high aldosterone levels alongside low renin levels due to negative feedback.

Answer 769

* Hypertension with hypokalemia * Treatment-resistant hypertension ## Footnote These conditions indicate a need for further investigation.

Answer 770

High-resolution CT abdomen ## Footnote This imaging is followed by adrenal vein sampling if needed.

Answer 771

Surgery (laparoscopic adrenalectomy) ## Footnote This is the recommended treatment for adrenal adenomas.

Answer 772

Aldosterone antagonist (e.g., spironolactone) ## Footnote This is used for managing bilateral hyperplasia cases.

Answer 773

False ## Footnote Hypokalaemia is a classical feature but only seen in 10-40% of patients.

Endocrine and metabolic Flashcards

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