Endocrinology Flashcards
<p>Define acromegaly.</p>
<p>A rare, chronic disease caused by excessive secretion of growth hormone (GH), usually due to a pituitary somatotroph adenoma.</p>
<p>Explain the aetiology/risk factors of acromegaly.</p>
<p>Certain familial conditions can increase the risk of getting acromegaly.</p>
<p>Summarise the epidemiology of acromegaly.</p>
<p>The prevalence of acromegaly is 5 per million. It usually presents between the ages of 30-50 years old.</p>
<p>Recognise the presenting symptoms of acromegaly. Recognise the signs of acromegaly on physical examination.</p>
<p>Coarsening of facial features<br></br>Soft-tissue and skin changes<br></br>Carpal tunnel syndrome<br></br>Joint pain and dysfunction<br></br>Snoring<br></br>Alterations in sexual functioning<br></br>Fatigue<br></br>Hypertension, arrhythmias<br></br>Organomegaly<br></br>Increased appetite, polyuria/polydipsia<br></br>Headaches</p>
<p>Identify appropriate investigations for acromegaly and interpret the results.</p>
<p>Test for IGF-1 in blood</p>
<p>Oral glucose tolerance test (OGTT)</p>
<p>Random serum growth hormone (GH)</p>
<p>Generate a management plan for acromegaly.</p>
<p>Transsphenoidal surgery: Treatment of choice. This is really effective. After surgery, there will be yearly follow ups by an endocrine clinic.</p>
<p>External irradiation: This is usually done as a follow up to a failed surgery and is more common in older patients.</p>
<p>Somatostatin analogue e.g. Octreotide</p>
<p>Identify the possible complications of acromegaly and its management.</p>
<p>Organomegaly<br></br>Increased risk of DM2<br></br>Hypertension<br></br>Colon polyps<br></br>Osteoarthritis<br></br>Carpal tunnel syndrome<br></br>Hypopituitarism</p>
<p>Summarise the prognosis for patients with acromegaly.</p>
<p>Acromegaly is associated with serious complications and premature death. Prior to recent years with the routine implementation of more effective treatment modalities, the mean mortality estimate for acromegaly was 2- to 3-fold the expected level in the general population.</p>
<p>Define adrenal insufficiency.</p>
<p>Addison's disease, or primary adrenal insufficiency, is a disorder that affects the adrenal glands, causing decreased production of adrenocortical hormones (cortisol, aldosterone, and dehydroepiandrosterone).<br></br>Another condition which can manifest as adrenal insufficiency is congenital adrenal hyperplasia.</p>
<p>Explain the aetiology/risk factors of adrenal insufficiency.</p>
<p>The most common cause of Addison’s disease worldwide is TB, however, in the UK, the most common cause is autoimmune disease.</p>
<p>CAH is a congenital disorder and the most common cause is the loss of the 21-hydroxylase enzyme, meaning that there is lack of production of adrenocortical hormones.</p>
<p>Summarise the epidemiology of adrenal insufficiency.</p>
<p>An epidemiological study of Addison’s disease carried out in Norway in 1999 showed a prevalence of 140 patients per million and a recorded mean incidence in the past decade of 0.62 per 100,000.<br></br>Screening studies indicate a worldwide incidence of classical 21-hydroxylase-deficient CAH as 1 in 13,000 to 1 in 54,000 live births.</p>
<p>Recognise the presenting symptoms of adrenal insufficiency. Recognise the signs of adrenal insufficiency on physical examination.</p>
<p>Babies with the salt-wasting form of CAH typically presents a week after birth with severe hypotension, weight loss and inability to feed. This is a medical emergency and if the child is not treated, then it will die.<br></br>Addisons’s disease can be characterised by the following signs and symptoms:<br></br>Fatigue<br></br>Anorexia<br></br>Weight loss<br></br>Hyperpigmentation<br></br>Hypotension</p>
<p>Identify appropriate investigations for adrenal insufficiency and interpret the results.</p>
<p>A short synACTHen test is the gold standard.</p>
<p>Generate a management plan for adrenal insufficiency.</p>
<p>Fludrocortisone</p>
<p>Prednisolone</p>
<p>Identify the possible complications of adrenal insufficiency and its management.</p>
<p>Secondary Cushing's syndrome</p>
<p>Osteopenia/osteoporosis</p>
<p>Treatment-related hypertension</p>
<p>Summarise the prognosis for patients with adrenal insufficiency.</p>
<p>Patients should receive replacement therapy for life. Adherence to treatment is high, since non-compliance results in uncomfortable symptoms. Furthermore, patients know that non-compliance is potentially life-threatening.</p>
<p>Define carcinoid syndrome.</p>
<p>Carcinoid syndrome occurs due to release of serotonin (5-hydroxytryptamine) and other vasoactive peptides into the systemic circulation from a carcinoid tumour. A carcinoid tumour is a neuroendocrine tumour.</p>
<p>Explain the aetiology/risk factors of carcinoid syndrome.</p>
<p>Genetic multiple endocrine neoplasia type 1 (MEN-1) syndrome<br></br></p>
<p>Summarise the epidemiology of carcinoid syndrome.</p>
<p>The incidence of carcinoid syndrome in a population in central Sweden was estimated as being approximately 0.5 per 100,000 population per year.</p>
<p>Recognise the presenting symptoms of carcinoid syndrome. Recognise the signs of carcinoid syndrome on physical examination.</p>
<p>Diarrhoea<br></br>Flushing<br></br>Palpitations<br></br>Abdominal cramps<br></br>Telangiectasia<br></br>Signs of right heart failure<br></br>Cardiac murmurs<br></br>Hepatomegaly</p>
<p>Identify appropriate investigations for carcinoid syndrome and interpret the results.</p>
<p>Serum chromogranin A/B<br></br>Urinary 5-hydroxyindoleacetic acid<br></br>Metabolic panel<br></br>Liver function tests<br></br>Full blood count</p>
<p>Define Cushing’s syndrome.</p>
<p>Cushing’s syndrome is caused by excessive steroids in the body. This may be due to many different causes such as a pituitary adenoma secreting too much ACTH or exogenous steroids from medication.</p>
<p>Explain the aetiology/risk factors of Cushing’s syndrome.</p>
<p>Exogenous corticosteroid use<br></br>Pituitary adenoma<br></br>Adrenal adenoma<br></br>Adrenal carcinoma</p>
<p>Summarise the epidemiology of Cushing’s syndrome.</p>
<p>Cushing syndrome is relatively uncommon in the general population. However, newer studies of high-risk groups report a significantly greater prevalence. Hypercortisolism has been reported in 0.5% to 1% of patients with hypertension, 2% to 3% of patients with uncontrolled diabetes, 6% to 9% of patients with adrenal masses, and 11% of patients with osteoporosis and vertebral fractures.</p>
Recognise the presenting symptoms of Cushing’s syndrome. Recognise the signs of Cushing’s syndrome on physical examination.
“Moon” Round face
Interscapular fat pad
Centripetal obesity
Striae
Menstrual irregularities
Identify appropriate investigations for Cushing’s syndrome and interpret the results.
9am cortisol
High dose dexamethasone suppression test
Low dose dexamethasone suppression test
24 hour urinary free cortisol
Generate a management plan for Cushing’s syndrome.
Reduce exogenous steroids
Transsphenoidal hypophysectomy
Bilateral adrenalectomy
The treatment depends on the cause of the Cushing’s.
Identify the possible complications of Cushing’s syndrome and its management.
Adrenal insufficiency secondary to adrenal suppression
Cardiovascular disease
Hypertension
Diabetes mellitus
Osteoporosis
Nephrolithiasis
Hypopituitarism
Summarise the prognosis for patients with Cushing’s syndrome.
Untreated disease carries a dismal survival rate of 50% at 5 years.
Within the first year of effective therapy, many of the characteristic features will resolve or show marked improvement.
Despite improvement of complications in most patients, cardiovascular risk, hypertension, obesity, and decreased quality of life may persist in some patients even after biochemical cure.
Define diabetes insipidus.
Diabetes insipidus (DI) is a metabolic disorder characterised by defective ability to concentrate urine in the kidneys, resulting in the production of large quantities of dilute urine.
Explain the aetiology/risk factors of diabetes insipidus.
Iatrogenic
Idiopathic
Drug induced
Pituitary surgery
Summarise the epidemiology of diabetes insipidus.
DI is uncommon, although the exact prevalence in the general population is difficult to estimate. For both central DI and nephrogenic DI, there are no clear differences in prevalence between genders or among ethnic groups.
Recognise the presenting symptoms of diabetes insipidus. Recognise the signs of diabetes insipidus on physical examination.
Polyuria
Polydipsia
Nocturia
CNS symptoms of hyponatraemia
Identify appropriate investigations for diabetes insipidus and interpret the results.
BM
Water deprivation test without ADH
Water deprivation test with ADH
Serum salts
Generate a management plan for diabetes insipidus.
Desmopressin: V2 agonist
IV or oral fluids may be given in acute complications.
Identify the possible complications of diabetes insipidus and its management.
Hypernatraemia
Thrombosis
Bladder and renal dysfunction
Iatrogenic hyponatraemia
Summarise the prognosis for patients with diabetes insipidus.
Diabetes insipidus is a life-long condition but most patients are well controlled on DDAVP.
Define diabetic ketoacidosis.
Diabetic ketoacidosis (DKA) is an acute metabolic complication of diabetes that is potentially fatal and requires prompt medical attention for successful treatment. It is characterised by absolute insulin deficiency and is the most common acute hyperglycaemic complication of type 1 diabetes mellitus.
Explain the aetiology/risk factors of diabetic ketoacidosis.
Poor control of DM (particularly type I)
Infection
MI
Summarise the epidemiology of diabetic ketoacidosis.
In England, the incidence of hospital admissions for DKA among adults with type 2 diabetes increased 4.24% annually between 1998 and 2013; hospitalisations for DKA in adults with type 1 diabetes increased from 1998 to 2007, and remained static until 2013.
Recognise the presenting symptoms of diabetic ketoacidosis.
Polyuria
Polyphagia
Polydipsia
Weight loss
Weakness
Nausea or vomiting
Abdominal pain
Recognise the signs of diabetic ketoacidosis on physical examination.
Dry mucous membranes
Poor skin turgor
Sunken eyes
Tachycardia
Hypotension
Acetone breath
Altered mental status
Identify appropriate investigations for diabetic ketoacidosis and interpret the results.
U+Es
BM
Serum salts (sodium, potassium, magnesium)
Urinalysis
LFTs
ABG
Serum lactate
Serum amylase
Serum osmolality
FBC
Generate a management plan for diabetic ketoacidosis.
Fluid replacement: IV or oral fluids until rehydrated. This replaces the fluid lost through excessive urination as well as dilutes the excess ketones in the blood.
Electrolyte replacement: The absence of insulin can decrease the level of several electrolytes in blood. IV electrolyte is usually given.
Insulin therapy: Insulin reverses the processes that cause diabetic ketoacidosis. Once BM falls to about 11.1 mmol/L, stop IV insulin and resume normal insulin therapy.
Identify the possible complications of diabetic ketoacidosis and its management.
Hypoglycaemia
Hypokalaemia
Arterial or venous thromboembolic events
Non-anion gap hyperchloremic acidosis
Cerebral oedema/brain injury
Acute respiratory distress syndrome (ARDS)
Summarise the prognosis for patients with diabetic ketoacidosis.
The mortality rate is 5% in experienced centres. Death is rarely caused by the metabolic complications of hyperglycaemia or ketoacidosis but rather relates to the underlying illness. The prognosis is substantially worsened at the extremes of age and in the presence of coma and hypotension.
Define diabetes mellitus type 1.
Type 1 diabetes mellitus is a metabolic disorder characterised by hyperglycaemia due to absolute insulin deficiency. The condition develops due to destruction of pancreatic beta cells, mostly by immune-mediated mechanisms.
Explain the aetiology/risk factors of diabetes mellitus type 1.
Geographical region
Genetic predisposition
Infectious agents
Summarise the epidemiology of diabetes mellitus type 1.
Type 1 diabetes accounts for about 5% to 10% of all patients with diabetes. It is the most commonly diagnosed diabetes of youth (under 20 years of age) and causes ≥85% of all diabetes cases in this age group worldwide.
Recognise the presenting symptoms of diabetes mellitus type 1. Recognise the signs of diabetes mellitus type 1 on physical examination.
Polyuria
Polydipsia
Young age
Weight loss
Blurred vision
Nausea and vomiting
Abdominal pain
Tachypnoea
Lethargy
Identify appropriate investigations for diabetes mellitus type 1 and interpret the results.
Random plasma glucose
Fasting plasma glucose
2-hour plasma glucose
Plasma or urine ketones
HbA1c
Generate a management plan for diabetes mellitus type 1.
1st line: Basal-bolus insulin
Adjunct:
Pre-meal insulin correction dose
Amylin analogue
Fixed-dose insulin
Identify the possible complications of diabetes mellitus type 1 and its management.
Diabetic ketoacidosis (DKA)
Hypoglycaemia
Retinopathy
Diabetic kidney disease
Peripheral or autonomic neuropathy
Cardiovascular disease
Summarise the prognosis for patients with diabetes mellitus type 1.
Untreated type 1 diabetes is a fatal condition due to diabetic ketoacidosis. Poorly controlled type 1 diabetes is a risk factor for chronic complications such as blindness, renal failure, foot amputations, and heart attacks.
Define diabetes mellitus type 2.
Type 2 diabetes mellitus is a progressive disorder defined by deficits in insulin secretion and action that lead to abnormal glucose metabolism and related metabolic derangements.
Explain the aetiology/risk factors of diabetes mellitus type 2.
Older age
Overweight/obesity
Gestational diabetes
Pre-diabetes
Family history of type 2 diabetes
Non-white ancestry
Physical inactivity
Polycystic ovary syndrome
Hypertension
Dyslipidaemia
Cardiovascular disease
Stress
Summarise the epidemiology of diabetes mellitus type 2.
Diabetes prevalence is increasing worldwide, compounded by population growth and an ageing population. In 1980, the global age-standardised diabetes prevalence was 4.3%.
Recognise the presenting symptoms of diabetes mellitus type 2. Recognise the signs of diabetes mellitus type 2 on physical examination.
Asymptomatic
Candidal infections
Skin infections
Urinary tract infections
Fatigue
Blurred vision
Polydipsia
Polyphagia
Polyuria
Paraesthesias
Nocturia
Unintentional weight loss
Acanthosis nigricans
Identify appropriate investigations for diabetes mellitus type 2 and interpret the results.
HbA1c
Fasting plasma glucose
Random plasma glucose
2-hour post-load glucose after 75g oral glucose
Generate a management plan for diabetes mellitus type 2.
1. Lifestyle and metformin
2. Sulphonylureas + Insulin
3. Glitazones
SGLT2 inhibitors, GLP-1 agonists, DPP-4 inhibitors are used after this.
Summarise the prognosis for patients with diabetes mellitus type 2.
Diabetes increases the likelihood of major cardiovascular events and death, but the increased risk is variable across patients depending on age at diabetes onset, duration of diabetes, glucose control, blood pressure control, lipid control, tobacco control, renal function, microvascular complication status, and other factors.
Define Graves' disease.
Graves' disease is an autoimmune thyroid condition associated with hyperthyroidism.
Explain the aetiology/risk factors of Graves' disease.
Other autoimmune conditions
Tobacco use
Summarise the epidemiology of Graves' disease.
In the UK the incidence of clinical hyperthyroidism was shown to be 0.8/1000 women a year, with a negligible incidence in men. Graves' disease is the most common form of hyperthyroidism in most areas of the world.
Recognise the presenting symptoms of Graves' disease. Recognise the signs of Graves' disease on physical examination.
Irritability
Wide pulse pressure
Cardiac flow murmur
Moist, velvety skin
Scalp hair loss
Identify appropriate investigations for Graves' disease and interpret the results.
TSH
Serum free or total T4
Serum free or total T3
Calculation of total T3/T4 or FT3/FT4 ratio
Define hypogonadism.
Hypogonadism in males is a clinical syndrome that comprises symptoms and/or signs, along with biochemical evidence of testosterone deficiency.
Explain the aetiology/risk factors of hypogonadism.
Genetic anomaly
Type 2 diabetes mellitus
Use of alkylating agents, opioids, or glucocorticoids
Use of exogenous sex hormones and GnRH analogues
Hyperprolactinaemia
Pituitary tumour or apoplexy
Critical illness
Testicular damage
Summarise the epidemiology of hypogonadism.
The prevalence of hypogonadism increases with age. About a quarter of the US male population have total testosterone levels that are below 10.4 nanomol/L (<300 nanograms/dL) (considered by many experts to be the lower end of normal).
Recognise the presenting symptoms of hypogonadism. Recognise the signs of hypogonadism on physical examination.
Decreased libido
Loss of spontaneous morning erections
Erectile dysfunction
Gynaecomastia
Infertility
Decreased energy and fatigue
Delayed puberty
Decreased muscle mass and strength
Loss of axillary and pubic hair
Lack of facial hair
Poor concentration and memory
Depressed moo
Sleep disturbance
Hot flushes and sweats
Increasing BMI
Tall stature
Fine wrinkling of facial skin
Identify appropriate investigations for hypogonadism and interpret the results.
Serum total testosterone
Serum sex hormone binding globulin (SHBG)
Serum free testosterone
Serum LH/FSH
Define hypopituitarism.
Hypopituitarism refers to the partial or complete deficiency of one or more pituitary hormones. It may arise as a congenital defect during the development of the pituitary gland or as a result of acquired diseases of the pituitary gland, the parasellar structures, or the hypothalamus.
Explain the aetiology/risk factors of hypopituitarism.
Pituitary tumour
Pituitary apoplexy
Pituitary surgery
Cranial radiation
Traumatic brain injury
Genetic defects
Hypothalamic disease
Summarise the epidemiology of hypopituitarism.
Hypopituitarism is relatively rare, with a prevalence of 45 cases per 100,000 and an incidence of about 4 cases per 100,000 per year in the normal population.
Recognise the presenting symptoms of hypopituitarism. Recognise the signs of hypopituitarism on physical examination.
Presence of risk factors
Headaches
Failure to thrive or short stature
Infertility
Hypoglycaemia
Amenorrhoea/oligomenorrhoea
Galactorrhoea
Delayed puberty
Hypotension
Visual field defects
Ophthalmoplegia
Cardiovascular events
Cold intolerance
Weight gain
Erectile dysfunction and reduced libido
Nausea/vomiting
Fatigue
Weakness
Dizziness
Constipation
Dry skin
Delayed relaxation of reflexes
Identify appropriate investigations for hypopituitarism and interpret the results.
Serum electrolytes
Serum and urine osmolarity
8 a.m. cortisol and adrenocorticotrophic hormone
Thyroid function tests
8 a.m. testosterone, follicle-stimulating hormone, and luteinising hormone in men
Oestradiol, follicle-stimulating hormone, and luteinising hormone in women
Prolactin
Insulin-like growth factor-1
Cosyntropin/tetracosactide stimulation test
Generate a management plan for hypopituitarism.
Treat underlying cause. Treat pituitary apoplexy with IV hydrocortisone.
Identify the possible complications of hypopituitarism and its management.
Male infertility
Female infertility
Corticosteroid over-replacement
Thyroxine over-replacement
Desmopressin over-replacement
Growth hormone over-replacement
Testosterone over-replacement
Summarise the prognosis for patients with hypopituitarism.
Hypopituitarism has been associated with a 1.8-fold higher mortality compared with an age- and sex-matched population. Cardiovascular and cerebrovascular death rates are higher in patients with hypopituitarism compared with the normal population.
Define hypothyroidism.
Hypothyroidism is a clinical state resulting from underproduction of the thyroid hormones thyroxine (T4) and triiodothyronine (T3). Most cases (95%) are due to primary hypothyroidism, a failure of the thyroid gland to produce thyroid hormones.
Explain the aetiology/risk factors of hypothyroidism.
Iodine deficiency
Family history of autoimmune thyroiditis
Autoimmune disorders
Graves' disease
Post-partum thyroiditis
Turner's and Down's syndromes
Primary pulmonary hypertension
Multiple sclerosis
Radiotherapy
Amiodarone use
Lithium use
Summarise the epidemiology of hypothyroidism.
The incidence of primary hypothyroidism in the UK is estimated to be 0.41% per year for women and 0.06% per year in men. It is more common in middle aged women.
Recognise the presenting symptoms of hypothyroidism. Recognise the signs of hypothyroidism on physical examination.
Weakness
Lethargy
Cold sensitivity
Constipation
Weight gain
Depression
Menstrual irregularity
Myalgia
Dry or coarse skin
Eyelid oedema
Thick tongue
Bradycardia
Deep voice
Goitre
Identify appropriate investigations for hypothyroidism and interpret the results.
Serum thyroid-stimulating hormone (TSH)
Free serum T4
Serum cholesterol
FBC
Fasting blood glucose
Generate a management plan for hypothyroidism.
Levothyroxine
Identify the possible complications of hypothyroidism and its management.
Angina
Resistant hypothyroidism
Atrial fibrillation
Osteoporosis
Myxoedema coma
Complications in pregnancy
Summarise the prognosis for patients with hypothyroidism.
Prognosis is generally excellent with full recovery upon adequate replacement of thyroid hormones. The levothyroxine replacement dose may change over a period of years as the disease progresses or other conditions affecting thyroid hormone metabolism develop, but achieving excellent control of the disease is generally easily accomplished.
Define multiple endocrine neoplasia syndrome.
Multiple endocrine neoplasia (MEN) syndromes are hereditary tumour syndromes of variable neoplastic patterns and characterised by the development of multiple endocrine tumours.
Explain the aetiology/risk factors of multiple endocrine neoplasia syndrome.
Familial cases of MEN
RET proto-oncogene mutation
MEN1 (menin) mutation
Summarise the epidemiology of multiple endocrine neoplasia syndrome.
MEN syndromes are relatively rare.
Recognise the presenting symptoms of multiple endocrine neoplasia syndrome. Recognise the signs of multiple endocrine neoplasia syndrome on physical examination.
Young age (MEN1/2)
Positive family history (MEN1/2)
Episodic triad of sweating, palpitations, and headache (MEN2)
Clinical features of kidney stones (MEN1/2)
Facial angiofibromas or collagenomas (MEN1)
Mucosal neuromas (MEN2B)
Arm span and upper-to-lower-body-segment ratio (MEN2B)
Palpable thyroid nodule (MEN2)
Irregular menses (MEN1)
Visual changes (MEN1)
Unexplained flushing (MEN2)
Infertility (MEN1)
Clinical features of acromegaly (MEN1)
Clinical features of thyrotoxicosis (MEN1)
Identify appropriate investigations for multiple endocrine neoplasia syndrome and interpret the results.
Serum calcitonin (MEN2)
Serum carcinoembryonic antigen (MEN2)
Plasma metanephrines (MEN2)
Serum parathyroid hormone and calcium (MEN1/2)
Fasting serum gastrin (MEN1)
Serum chromogranin A (MEN1)
Serum prolactin (MEN1)
Insulin-like growth factor-1 (MEN1)
24-hour urine metanephrines and catecholamines (MEN2)
24-hour urine calcium (MEN1/2)
Thyroid biopsy (MEN2)
Define non-functioning pituitary tumours.
Pituitary adenomas are the third most common intracranial neoplasms in adults, accounting for about 10% of all intracranial tumours. They are diagnosed when patients present with hormone hypersecretion, plus visual and neurological deficits and hypopituitarism as a result of mass effect.
Explain the aetiology/risk factors of non-functioning pituitary tumours.
Multiple endocrine neoplasia type 1 (MEN-1)
Familial isolated pituitary adenomas (FIPA)
Carney complex (CNC)
Summarise the epidemiology of non-functioning pituitary tumours.
Pituitary adenomas are the third most common intracranial neoplasms (behind meningiomas and astrocytomas), accounting for about 10% of all intracranial tumours in adults. There is no known sex or racial difference in prevalence. The prevalence of pituitary adenoma varies from 19 to 28 cases per 100,000, in the UK.
Recognise the presenting symptoms of non-functioning pituitary tumours. Recognise the signs of non-functioning pituitary tumours on physical examination.
Headaches
Erectile dysfunction
Gynaecomastia
Amenorrhoea
Infertility
Loss of libido
Hot flushes
Fatigue
Nausea/vomiting
Bitemporal hemianopia
Identify appropriate investigations for non-functioning pituitary tumours and interpret the results.
Prolactin
Insulin-like growth factor 1
LH, FSH
Testosterone/oestradiol
Thyroid-stimulating hormone, free thyroxine
Morning cortisol
ACTH stimulation test
Insulin tolerance test for cortisol
Basic metabolic panel
FBC
MRI pituitary with gadolinium enhancement
Contrast enhanced CT pituitary
Define obesity.
Obesity can be defined as a chronic adverse condition due to an excess amount of body fat. While there are many methods to determine the relative amount of body fat, the most widely used method to determine obesity is the BMI.
BMI >30
Explain the aetiology/risk factors of obesity.
Hypothyroidism
Hypercortisolism
Corticosteroid therapy
Summarise the epidemiology of obesity.
In 2008, 24% of men and 25% of women aged 16 years or over in England were classified as obese (BMI ≥30 kg/m^2).
Recognise the presenting symptoms of obesity. Recognise the signs of obesity on physical examination.
Height
Weight
Waist circumference
Hip circumference
Comorbid conditions
Identify appropriate investigations for obesity and interpret the results.
Clinical exam
Define osteomalacia.
Osteomalacia is a metabolic bone disease characterised by incomplete mineralisation of the underlying mature organic bone matrix (osteoid) following growth plate closure in adults.
Explain the aetiology/risk factors of osteomalacia.
Dietary calcium and vitamin D deficiency
Chronic kidney disease
Limited sunlight exposure
Inherited disorders of vitamin D and bone metabolism
Hypophosphatasia
Anticonvulsant therapy
Summarise the epidemiology of osteomalacia.
In the US and Europe, more than 40% of the adult population older than age 50 years are vitamin D deficient, this being the most prominent cause of osteomalacia. In developing countries, such as Tibet and Mongolia, vitamin D deficiency leading to clinical rickets is reported in 60% of infants.
Recognise the presenting symptoms of osteomalacia. Recognise the signs of osteomalacia on physical examination.
Old age
Vitamin D and calcium deficient diets
Lack of sunlight exposure
Fractures
Malabsorption syndromes
Diffuse bone pain and tenderness
Proximal muscle weakness
Family history of osteomalacia
Waddling gait
Identify appropriate investigations for osteomalacia and interpret the results.
Serum calcium level
Serum 25-hydroxyvitamin D level
Serum phosphate level
Serum urea and creatinine
Intact PTH
Serum alkaline phosphatase
24-hour urinary calcium
Define osteoporosis.
Osteoporosis is a complex skeletal disease characterised by low bone density and micro-architectural defects in bone tissue, resulting in increased bone fragility and susceptibility to fracture.
Explain the aetiology/risk factors of osteoporosis.
Prior fragility fracture
Female sex
White ancestry
Older age (>50 years for women and >65 years for men)
Low BMI
Postmenopause
Secondary amenorrhoea
Primary hypogonadism
Smoking
Excessive alcohol use
Prolonged immobilisation
Low calcium intake
Vitamin D deficiency
Glucocorticoid excess
Corticosteroid use
Summarise the epidemiology of osteoporosis.
In the UK and Europe, fractures caused by osteoporosis affect 1 in 2 women and 1 in 5 men aged >50 years.
Recognise the presenting symptoms of osteoporosis. Recognise the signs of osteoporosis on physical examination.
Back pain
Kyphosis
Impaired vision
Impaired gait, imbalance, and lower-extremity weakness
Vertebral tenderness
Identify appropriate investigations for osteoporosis and interpret the results.
DXA scan
Serum alkaline phosphatase
Serum calcium
Serum 25-hydroxy vitamin D
Serum parathyroid hormone
Thyroid function tests
Define Paget’s disease of bone.
A chronic bone disorder that is characterised by focal areas of increased bone remodelling, resulting in overgrowth of poorly organised bone. This unbalanced process may lead to osseous deformities, altered joint biomechanics, nerve compressions, and pathological fractures.
Explain the aetiology/risk factors of Paget’s disease of bone.
Family history of Paget's disease
Age >50 years
Male sex (45- to 74-years age group)
Infection
Environmental factors
Summarise the epidemiology of Paget’s disease of bone.
It is the second most common chronic bone-remodelling disorder after osteoporosis. The majority of cases are sporadic, but between 5% and 40% of patients report a first-degree relative with Paget's disease of bone.
Recognise the presenting symptoms of Paget’s disease of bone. Recognise the signs of Paget’s disease on physical examination.
Asymptomatic
Femoral, pelvis, and/or skull involvement
Long-bone or back pain
Pathological fracture
Bony deformities (e.g., frontal bossing, prognathism, bone bowing)
Increased local temperature
Hearing loss
Identify appropriate investigations for Paget’s disease of bone and interpret the results.
Plain x-ray
Bone scan
Total serum alkaline phosphatase
Bone-specific alkaline phosphatase
Serum calcium
Serum procollagen 1 N-terminal peptide (P1NP)
Serum C-terminal propeptide of type 1 collagen (CTX)
LFTs
Serum 25-hydroxyvitamin D
Define phaeochromocytoma.
A tumour arising from catecholamine-producing chromaffin cells of the adrenal medulla that classically presents with headaches, diaphoresis, and palpitations in the setting of paroxysmal hypertension.
Explain the aetiology/risk factors of phaeochromocytoma.
Multiple endocrine neoplasia (MEN) syndrome type 2A and B
Von Hippel-Lindau (VHL) disease
Succinate dehydrogenase (SDH) subunits B, C, and D gene mutations
Summarise the epidemiology of phaeochromocytoma.
Phaeochromocytoma is a rare condition; the annual incidence in the general population is around 0.6 per 100,000 person-years.
Recognise the presenting symptoms of phaeochromocytoma. Recognise the signs of phaeochromocytoma on physical examination.
Headache
Palpitations
Diaphoresis
Hypertension
Hypertensive retinopathy
Pallor
Impaired glucose tolerance/diabetes mellitus
Tachyarrhythmias and myocardial infarction
Panic attacks or a 'sense of doom'
Orthostatic hypotension
Hypercalcaemia
Diarrhoea
Identify appropriate investigations for phaeochromocytoma and interpret the results.
24-hour urine collection for catecholamines, metanephrines, normetanephrines, and creatinine
Serum free metanephrines and normetanephrines
Plasma catecholamines
Genetic testing
Define PCOS.
Polycystic ovary syndrome (PCOS) includes symptoms of hyper-androgenism, irregular or absent periods, and polycystic ovaries on ultrasound. PCOS is a spectrum; some patients can exhibit symptoms of PCOS.
Explain the aetiology/risk factors of PCOS.
Family history of PCOS
Premature adrenarche
Low birth weight
Fetal androgen exposure
Obesity
Environmental endocrine disruptors
Summarise the epidemiology of PCOS.
PCOS affects 6% to 8% of women of reproductive age in the US (using the 1990 National Institutes of Health criteria); symptoms generally start at the time of puberty.
Recognise the presenting symptoms of PCOS. Recognise the signs of PCOS on physical examination.
Acne
Overweight or obesity
Hypertension
Scalp hair loss
Oily skin or excessive sweating
Acanthosis nigricans
Identify appropriate investigations for PCOS and interpret the results.
USS Ovaries
Serum androgens
Serum testosterone and DHEAS
Serum prolactin
Serum TSH
Define primary hyperaldosteronism.
In primary aldosteronism (PA), aldosterone production exceeds the body's requirements and is relatively autonomous with regard to its normal chronic regulator, the renin-angiotensin II system.
Explain the aetiology/risk factors of primary hyperaldosteronism.
Family history of PA
Family history of early onset of hypertension and/or stroke
Summarise the epidemiology of primary hyperaldosteronism.
For many years, PA was considered a rare (<1%) cause of hypertension and not worth seeking unless hypokalaemia was present. However, since 1992, evidence has accumulated that PA is much more common than was previously thought, and that most patients are normokalaemic.
Recognise the presenting symptoms of primary hyperaldosteronism. Recognise the signs of primary hyperaldosteronism on physical examination.
Hypertension
Age 20 to 70 years
Nocturia, polyuria
Lethargy
Mood disturbance (irritability, anxiety, depression)
Difficulty concentrating
Identify appropriate investigations for primary hyperaldosteronism and interpret the results.
Plasma potassium
Aldosterone/renin ratio
Generate a management plan for primary hyperaldosteronism.
Aldosterone antagonists
Unilateral adrenalectomy
Identify the possible complications of primary hyperaldosteronism and its management.
Perioperative complications
Stroke
Myocardial infarction
Heart failure
Atrial fibrillation
Impaired renal function
Aldosterone antagonist- or mineralocorticoid receptor antagonist-induced hyperkalaemia
Summarise the prognosis for patients with primary hyperaldosteronism.
Patients undergoing unilateral adrenalectomy for unilateral PA:
This procedure leads to cure of hypertension in 50% to 60% of carefully selected patients and improvement in all of the remainder.
Define primary hyperparathyroidism.
Primary hyperparathyroidism (PHPT) is an endocrine disorder in which autonomous overproduction of parathyroid hormone (PTH) results in derangement of calcium metabolism.
Explain the aetiology/risk factors of primary hyperparathyroidism.
Female sex
Age ≥50-60 years
Family history of PHPT
Multiple endocrine neoplasia (MEN) 1, 2A, or 4
Current or historical lithium treatment
Hyperparathyroidism-jaw tumour syndrome
Summarise the epidemiology of primary hyperparathyroidism.
Primary hyperparathyroidism is a relatively common disorder affecting 1 in 500 women and 1 in 2000 men aged over 40 years. A population-based study suggested 2% of post-menopausal women have PHPT, with the disorder being the most common cause of hypercalcaemia in outpatients.
Recognise the presenting symptoms of primary hyperparathyroidism. Recognise the signs of primary hyperparathyroidism on physical examination.
History of osteoporosis or osteopenia
Bone pain
Poor sleep
Fatigue
Anxiety
Depression
Memory loss
Myalgias
Paraesthesias
Muscle cramps
Constipation
Identify appropriate investigations for primary hyperparathyroidism and interpret the results.
Serum calcium
Serum intact PTH with immunoradiometric or immunochemical assay
Generate a management plan for primary hyperparathyroidism.
1st line: Parathyroidectomy
Adjunct: Vitamin D supplementation
2nd line: Monitoring
Adjunct:
Bisphosphonate
Cinacalcet
Vitamin D supplementation
Identify the possible complications of primary hyperparathyroidism and its management.
Neck haematoma following surgery
Recurrent and superior laryngeal nerve injury following surgery
Hypocalcaemia following surgery
Pneumothorax following surgery
Osteoporosis
Bone fractures
Nephrolithiasis
Summarise the prognosis for patients with primary hyperparathyroidism.
For asymptomatic patients who do not meet the criteria for surgical intervention, 75% have stable disease for up to 10 years. Twenty-five percent of patients progress to meeting criteria for parathyroidectomy.
Parathyroidectomy has a cure rate of over 95% and as high as 99% in expert hands.
Define prolactinoma.
Prolactinomas are benign lactotroph adenomas expressing and secreting prolactin.
Explain the aetiology/risk factors of prolactinoma.
Female gender, 20 to 50 years of age
Genetic predisposition
Oestrogen therapy
Male gender, 30 to 60 years of age
Summarise the epidemiology of prolactinoma.
Prolactinomas are the most common type of pituitary adenoma, constituting about 40% of these tumours.
Recognise the presenting symptoms of prolactinoma. Recognise the signs of prolactinoma on physical examination.
Amenorrhoea or oligomenorrhoea
Infertility
Galactorrhoea
Loss of sexual desire (libido)
Erectile dysfunction
Visual deterioration (e.g., temporal hemianopia)
Osteoporosis
Identify appropriate investigations for prolactinoma and interpret the results.
Serum prolactin
Pituitary MRI
Computerised visual-field examination
Generate a management plan for prolactinoma.
Cabergoline/bromocriptine
Octreotide
Transsphenoidal hypophysectomy
Identify the possible complications of prolactinoma and its management.
Visual field impairment
Anterior pituitary failure and/or diabetes insipidus
Hypopituitarism associated with radiotherapy
Cabergoline-associated valvular insufficiency
Pituitary apoplexy
Cerebrospinal fluid leakage
Summarise the prognosis for patients with prolactinoma.
This benign disease follows a progressive improving course while medically treated. In some patients, dopamine agonist treatment may be withdrawn after several years without tumour recurrence.
Define secondary hyperparathyroidism.
Any disorder that results in hypocalcaemia will elevate parathyroid hormone levels and can serve as a cause of secondary hyperparathyroidism. The most frequent causes of the condition are chronic kidney disease (CKD), malabsorption syndromes, and chronic inadequate sunlight exposure, acting via alterations in vitamin D, phosphorus, and calcium.
Explain the aetiology/risk factors of secondary hyperparathyroidism.
Ageing
Chronic renal failure
Vitamin D deficiency: inadequate sunlight exposure
Nutritional deficiency (especially absence of dairy products and fish)
Vitamin D deficiency: malabsorption
Summarise the epidemiology of secondary hyperparathyroidism.
Twenty-six million American adults have CKD and millions of others are at increased risk of vitamin D deficiency. Over 60% of these patients are at risk for the development of secondary hyperparathyroidism. Virtually all dialysis-dependent chronic renal failure patients develop secondary hyperparathyroidism.
Recognise the presenting symptoms of secondary hyperparathyroidism. Recognise the signs of secondary hyperparathyroidism on physical examination.
Features of chronic renal failure
Features of underlying malabsorption syndrome
Muscle cramps and bone pain
Perioral tingling or paresthesia in fingers or toes
Chvostek's sign
Trousseau's sign
Bowed legs or knock knees
Fractures
Identify appropriate investigations for secondary hyperparathyroidism and interpret the results.
Serum calcium
Serum intact parathyroid hormone (iPTH)
Serum creatinine
Serum urea nitrogen
Generate a management plan for secondary hyperparathyroidism.
Treat the cause. Apart from CKD, most causes can be treated with better nutrition and vitamin D supplementation.
Identify the possible complications of secondary hyperparathyroidism and its management.
Osteodystrophy
Osteoporosis
Uraemia
Calciphylaxis
Summarise the prognosis for patients with secondary hyperparathyroidism.
The patient outlook for secondary hyperparathyroidism mirrors the underlying disease. In patients with chronic kidney disease, aggressive electrolyte management will help optimise the situation; many patients will require calcimimetics, a treatment that has reduced the frequency of surgery for this condition.
Define SIADH.
The syndrome of inappropriate antidiuretic hormone (SIADH) is characterised by hypotonic hyponatraemia, concentrated urine, and a euvolemic state.
Explain the aetiology/risk factors of SIADH.
Age >50 years
Pulmonary conditions (e.g., pneumonia)
Nursing home residence
Malignancy
Medicine associated with SIADH induction
Central nervous system (CNS) disorder
Summarise the epidemiology of SIADH.
A report of 184 episodes of severe hyponatraemia (reported as ≤120 mmol/L [≤120 mEq/L]) in hospitals across the US and UK found that in 21% of people the condition was of acute duration and in 79% it was of chronic duration.
Recognise the presenting symptoms of SIADH. Recognise the signs of SIADH on physical examination.
Absence of hypovolaemia
Absence of hypervolaemia
Absence of signs of adrenal insufficiency or hypothyroidism
Nausea/vomiting
Altered mental status
Headache
Seizure
Coma
Identify appropriate investigations for SIADH and interpret the results.
Serum sodium
Serum osmolality
Serum urea
Urine osmolality
Urine sodium
Generate a management plan for SIADH.
Fluid restriction
Furosemide
Vaptans
Identify the possible complications of SIADH and its management.
Central pontine myelinolysis (CPM or osmotic demyelination syndrome)
What is central pontine myelinolysis (CPM or osmotic demyelination syndrome)?
The brain adapts slowly to hyponatraemia by secretion of intracellular solutes such as sodium and potassium initially, followed by amino acids and myoinositol (organic osmolytes). Overcorrection of hyponatraemia can subject solute-poor cerebral cells to shrinkage and CPM.
Summarise the prognosis for patients with SIADH.
If the underlying cause is found and treated successfully, SIADH typically resolves. If the underlying condition persists, SIADH is difficult to manage, secondary to difficulty complying with necessary fluid restriction or medicines.
Define thyroid cancer.
Cancer of the thyroid gland. Four types account for more than 98% of thyroid malignancies: papillary, follicular, anaplastic, and medullary.
Explain the aetiology/risk factors of thyroid cancer.
Head and neck irradiation
Female sex
Summarise the epidemiology of thyroid cancer.
Thyroid cancer is the most common endocrinological malignancy and is more common in women than in men. Thyroid cancer is notable in that rates of new thyroid cancer cases have been rising over the past few decades.
Recognise the presenting symptoms of thyroid cancer. Recognise the signs of thyroid cancer on physical examination.
Palpable thyroid nodule
Early adulthood
Hoarseness
Dyspnoea
Dysphagia
Tracheal deviation
Cervical lymphadenopathy
Rapid neck enlargement
Identify appropriate investigations for thyroid cancer and interpret the results.
TSH
Fine-needle biopsy
Ultrasound, neck
Laryngoscopy
Define viral thyroiditis.
Viral thyroiditis is a self-limited inflammation of the thyroid gland. It is associated with a triphasic clinical course that lasts for a few weeks to many months, characterised by transient thyrotoxicosis, hypothyroidism, and then a return to normal thyroid function in >90% of patients.
Explain the aetiology/risk factors of viral thyroiditis.
Viral infection
Summarise the epidemiology of viral thyroiditis.
There does not seem to be any global difference in epidemiology. The overall age- and sex-adjusted annual incidence rate calculated for one state in the US was estimated to be 4.9 cases per 100,000.
Recognise the presenting symptoms of viral thyroiditis. Recognise the signs of viral thyroiditis on physical examination.
Neck pain
Tender, firm, enlarged thyroid
Fever
Palpitations
Recent viral infection
Myalgia
Malaise
Tremor
Heat intolerance
Identify appropriate investigations for viral thyroiditis and interpret the results.
Thyroid-stimulating hormone (TSH)
Total T4, total T3, T3 resin uptake, free thyroxine index
T3:T4 ratio
Radioactive iodine uptake
ESR
CRP
Antithyroid antibodies (thyroid peroxidase antibodies)
Generate a management plan for viral thyroiditis.
Thyroid pain and tenderness: Analgesic or corticosteroid
Tachycardia or anxiety or tremor: Beta-blocker or calcium-channel blocker
Severe thyrotoxicosis: Potassium iodide plus prednisolone
Identify the possible complications of viral thyroiditis and its management.
Thyroid storm
Long-term hypothyroidism
Summarise the prognosis for patients with viral thyroiditis.
In ≥90% of patients, there is a complete and spontaneous recovery and a return to normal thyroid function. However, the thyroid gland may exhibit irregular scarring between islands of residual functioning parenchyma. Up to 10% of patients may require permanent replacement with levothyroxine due to persistent hypothyroidism.
