Endo Flashcards
What is Abetalipoproteinemia?
Features?
Abetalipoproteinemia is rare autosomal recessive disorder
Features: Failure to thrive Steatorrhoea Retinitis pigmentosa Cerebellar signs Absent deep tendon reflexes Acanthocytosis Hypocholesterolaemia
What is acromegaly?
Features?
Complications?
Excess growth hormone
Features: Coarse facial features Large tongue Prognathism Excessive sweating Features of pituitary tumour Galactorrhoea
Complications: HTN Diabetes Cardiomyopathy Colorectal Cancer
Investigation of Acromegaly?
Serum IGF-1 with serial GH measurements
OGTT to confirm diagnosis oif IGF-1 raised
Pituitary MRI - may show pituitary tumour
NOTE: no suppression of GH in OGTT
Management of Acromegaly?
Trans-sphenoidal Surgery (1st line)
Somatostatin Analogue:
- Octreotide (1st Line drug)
Dopamine Agonists:
- Bromocriptine
GH Receptor Antagonist:
- Pegvisomant (S/C administration)
What is addison’s disease?
What does it result in?
Features?
Autoimmune destruction of adrenal glands
Reduced cortisol and aldosterone
Features: Lethargy Weakness N&V Hyperpigmentation Hypotension Hypoglycaemia Hyponatramia and Hyperkalaemia
Name causes of hypoadrenalism?
Primary:
- TB
- Metastases
- Meningococcal Septicaemia (Waterhouse-Friderichsen)
- HIV
- Antiphospholipid
- Addison’s disease
Secondary:
- Pituitary
Exogenous Glucocorticoid Therapy
Investigation of addison’s disease?
Short Synacthen test
- Plasma cortisol before and 30 mins after giving
9 am Cortisol
>500 - unlikely
<100 - abnormal
100-500 - ACTH stimulation test needed
Management of addison’s disease?
Hydrocortisone
Fludrocortisone
Also:
Patient education
MedicAlert Bracelet
Double glucocorticoid in illness
Addisonian crisis: Causes and Management
Causes:
- Sepsis or surgery causing acute exacerbation of chronic insufficiency
- Adrenal haemorrhage
- Steroid withdrawal
Management:
- Hydrocortisone 100mg IM or IV
- 1L Normal saline
- 6 hourly hydrocortisone until stable
- Oral replacement after 24 hours. Reduce to maintenance over 3-4 days
What is androgen insensitivity syndrome?
Features?
Diagnosis?
Management?
X-Linked recessive
End organ resistance to testosterone
Genotypical male children (46XY) have female phenotype
Features:
- Primary amennorhea
- Undescended tests -> groin swelling
- Breast development may occur
Diagnosis:
- Karyotype
Mangaement:
- Counselling
- Bilateral orchidectomy
- Oestrogen
What is autoimmune polyendocrinopathy syndrome?
Which is the most common type?
APS Type 1 = Multiple Endocrine Deficiency Autoimmune Candidiasis (MEDAC): 2 of
- Chronic mucocutaneous candidiasis
- Addison’s disease
- Primary hypoparathyroidism
APS Type 2 (most common) = Schmidt’s Syndrome: Addisons plus 1 of
- Addisons
- T1DM
- Autoimmune Thyroid disease
NOTE: Both can also get vitiligo
What are the features of Bartter’s syndrome?
Polyuria Polydipsia Hypokalaemia Normotension Weakness
What is Canakinumab?
monoclonal antibody targeting interleukin-1β.
What is carbimazole used for?
Adverse features?
Management of thyrotoxicosis
Adverse features:
- Agranulocytosis
- Crosses placenta - may be used in low doses in pregnancy
Mechanism:
- Blocks thyroid peroxidase from coupling and iodinating tyrosine residues on thyroglobulin
What serotypes of HPV cause cervical cancer?
Other risk factors?
16
18
33
Smoking HIV Early intercourse Many partners High parity Low socioeconomic status COC
What is congenital adrenal hyperplasia?
What are the main types?
Autosomal recessive disorders
High ACTH due to low cortisol levels. This stimulates adrenal androgens that may virilize female infant
21-hydroxylase deficiency (90%)
11-beta hydroxylase deficiency (5%)
17-hydroxylase deficiency (very rare)
Features of congenital adrenal hyperplasia for each type?
21-hydroxylase deficiency features
virilisation of female genitalia
precocious puberty in males
60-70% of patients have a salt-losing crisis at 1-3 wks of age
11-beta hydroxylase deficiency features virilisation of female genitalia precocious puberty in males hypertension hypokalaemia
17-hydroxylase deficiency features
non-virilising in females
inter-sex in boys
hypertension
Features of congenital hypothyroidism?
Prolonged neonatal jaundice Delayed mental and physical milestone Short stature Puffy face Macroglossia Hypotonia
Side effects of glucocorticoid therapy?
endocrine: impaired glucose regulation, increased appetite/weight gain, hirsutism, hyperlipidaemia
Cushing’s syndrome: moon face, buffalo hump, striae
musculoskeletal: osteoporosis, proximal myopathy, avascular necrosis of the femoral head
immunosuppression: increased susceptibility to severe infection, reactivation of tuberculosis
psychiatric: insomnia, mania, depression, psychosis
gastrointestinal: peptic ulceration, acute pancreatitis
ophthalmic: glaucoma, cataracts
suppression of growth in children
intracranial hypertension
neutrophilia
Side effects of mineralocorticoid therapy?
Fluid retention
HTN
Causes of cushing’s syndrome?
ACTH Dependent:
- Cushings disease (80%) - pituitary secreting ACTH tumour
- Ectopic ACTH
ACTH Independent:
- Steroids
- Adrenal adenoma
- Adrenal carcinoma
- Carney Complex (syndrome including cardiac myxoma)
- Micronodular adrenal dysplasia
What is pseudo-cushings?
Who is it commonly seen in?
Mimics cushings
Alcohol excess
Severe depression
False positive dexamethasone suppression test or 24 hour urinary free cortisol
Insulin stress test may differentiate
Investigation in Cushing’s syndrome?
Confirmation and localisation test/
Confirm Cushing’s Syndrome:
- Overnight dexamethasone suppression test
- 24 hr free urinary cortisol
Localisation:
- 9am Cortisol and midnight plasma ACTH. If ACTH suppressed, then non-ACTH dependent cause is likely
- Low and high dose dexamethasone tests
Results:
- Not suppressed by low dose (Secondary cause)
- Suppressed by high, but not low (Cushing’s disease)
- Not suppressed by either (ectopic ACTH)
If can’t differentiate between pituitary and ectopic ACTH:
- Petrosal sinus sampling
Causes of delayed puberty?
Differentiate by stature
Short Stature:
- Turner’s Syndrome
- Prader-Willi Syndrome
- Noonan’s Syndrome
Normal Stature:
- PCOS
- Androgen insensitivity
- Kallmann’s Syndrome
- Klinefelter’s Syndrome
Diagnosis of T2DM?
Symptomatic:
- Fasting glucose >= 7.0
- Random Glucose >= 11.1
Asymptomatic:
- As above on two separate occasions
Normal glucose levels?
Glucose and HbA1c
<= 6.0 glucose <= 41 HbA1c (5.9%)
Prediabetes?
Glucose and HbA1c
6.0-7.0 glucose
41-48 HbA1c
NOTE: HbA1c < 48 does not exclude diabetes
Diabetes?
Glucose and HbA1c
>= 7.0 glucose >= 48 HbA1c (6.5%)
What is impaired fasting glucose?
A fasting glucose greater than or equal to 6.1 but less than 7.0 mmol/l implies impaired fasting glucose (IFG)
What is impaired glucose tolerance?
Impaired glucose tolerance (IGT) is defined as 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
Examples of GLP-1 mimetics?
What are their criteria for use?
What is the criteria to continue?
Increase insulin secretion. Inhibit glucagon secretion
Result in weight loss
Exanatide
Liraglutide
Uses if:
BMI >35 and problems with weight
BMI <35 and insulin use unacceptable
Criteria for continued use:
- 11mmol/mol reduction HbA1c (1%)
- 3% weight loss after 6 months
What are DPP-4 inhibitors?
Give examples
Oral
No weight gain
No hypoglycaemia
Vildagliptin
Sitagliptin
Management of T1DM
Target HbA1c
Frequency of self monitoring?
Blood glucose target?
=<48 (6.5%)
Self monitoring:
QDS
More often if pregnancy, sport or ill
Blood Glucose target?
5-7mmol/l on waking
4-7 mmol/l other times
When should Metformin be added to T1DM management?
If BMI >25
T1DM insulin of choice?
Basal-bolus with rapid acting insulin analogue before meals
Management of T2DM?
Target HbA1c?
When should second agent be added?
Target 48 (6.5%) (lifestyle + metformin) Target 53 (7.0%) (drugs which cause hypoglycaemia i.e. sulfonylurea)
Second agent when 58 (7.5%)
Dietary advice (high fibre, low glycaemic index, low-fat dairy, oily fish).
Aim weight loss 5-10% if overweight
Management of T2DM?
What are the four oral antidiabetic drugs?
Metformin Gliptin Sulfonylurea Pioglitazone (SGLT-2 inhibitor)
Always begin with metformin unless this cannot be tolerated
- If not able to get under 7.5% and on dual therapy, add third agent
- If still not controlled –> insulin
OR if BMI >35: (Metformin, Sulphonylurea, GLP1-mimetic)
Cannot tolerate Metformin:
- Sulfonylurea/Gliptin/Pioglitazone
Target BP in diabetes? First line anti-hypertensive?
<140/80
<130/80 if end organ damage
ACEi first line
Management of T2 diabetes in Ramadan?
Long acting carbs at sunrise
Metformin (1/3 before, 2/3 after)
Sulfonylurea (switch to once daily after sunset)
Moderate risk in diabetic feet?
Deformity
Neuropathy
Non-critical limb ischaemia
Management of DKA?
Criteria for DKA?
Criteria:
glucose > 11 mmol/l or known diabetes mellitus
pH < 7.3
bicarbonate < 15 mmol/l
ketones > 3 mmol/l or urine ketones ++ on dipstick
Management:
- Fluids (1L 1hr, 1L 2hr, 1L 2hr, 1L 4hr, 1L 4hr, 1L 6hr)
- Insulin 0.1 unit/kg/hr
- Once BG <15, add 5% dextrose
- Correct hypokalaemia
- Continue long acting insulin
What to do for DKA and K
>5.5
3.5-5-5
<3.5
> 5.5 - Nil
3.5-5.5 - 40mmol K
<3.5 - senior review
Management of diabetic neuropathy?
Amitryptyline, Duloxetine, Gabapentin or Pregabalin
Tramadol as rescue therapy
Topical capsaicin for localised neuropathic pain
Management of diabetic gastroparesis?
Metoclopramide
Domperidone
Erythromycin
List five disorders of sex development?
What is their pathogenesis?
1) Androgen insensitivity syndrome (46XY)
- defect in androgen recentor leading to end organ resistance
- Rudimentary vagina and testes. No uterus
2) 5-alpha reductase deficiency (46XY)
- inability to convert testosterone to dihydrotestosterone
- Ambiguous genitalia. Hypospadius. Virilization at puberty
3) Male pseudohermaphroditism (46XY)
- Testes but external genitalia female
- CAIS
4) Female pseudohermaphroditism (46XX)
- Ovaries but external genitalia male
- CAH
5) True hermaphroditism (46XX or 47XXY)
- Both ovarian and testicular tissue present
Features of Klinefelters? LH and Testosterone
Features?
LH - high
Testosterone - Low
Primary Hypogonadism
Taller than average Lack of secondary sexual characteristics Small, firm testes Infertile Gynaecomastia
Features of Kallman’s?
LH and Testosterone.
Features?
Management for fertility treatment?
LH - low
Testosterone - low
Hypogonadotrophic hypogonadism
Lack of smell
Delayed puberty
Cryptorchidism
Females:
- HCG
- FSH
- IVF
Androgen insensitivity syndrome? LH and Testosterone.
Features?
LH - high
Testosterone - normal/high
Primary amenorrhoea
Undescended testes - groin swelling
Breast development
Testosterone secreting tumour? LH and Testosterone.
Features?
LH - low
Testosterone - high
Rules of Diabetics with DVLA
Key points
Rules of insulin
No severe hypoglycaemic event in last 12 months
Full hypoglycaemic awarenesss
Adequate control by regular monitoring
Understand risks
Insulin - can drive car if hypoglycaemic aware. No more than one event needing help in last 12 months
Annual review needed
Management of endometrial cancer?
Investigation?
Investigation:
- PMB - 2WW
- Trans-vaginal USS
- Hysteroscopy with endometrial biopsy
MAnagement:
- Local disease - Total abdominal hysterectomy
- High risk - as above with radiotherapy
What is familial benign hypocalciuric hypercalcaemia?
Rare autosomal dominant
Asymptomatic hypercalcaemia
PTH often not suppressed
Decreased sensitivity to increase in extracellular calcium
Familial hypercholesterolaemia:
Autosomal dominant
Simon Broome Criteria for diagnosis
Management:
- Specialist lipid clinic
- High dose statins
- Screen relatives
Features of gitelman’s syndrome?
Normotension Hypokalaemia Hypocalcuria Hypomagnesaemia Metabolic alkalosis
Features of glucagonoma?
Investigation?
Management?
Tumours in pancreas
Diabetes mellitus
VTE
Necrolytic migratory erythema
Serum glucagon >1000pg/ml
Management:
- Resection
- Octerotide
Features of Graves disease?
Thyrotoxicosis Age 30-50 Women Exophthalmos Ophthalmoplegia Pretibial myxoedema Thyroid acropachy TSH antibody 90% anti-TPO antibody 55%
Management of Graves?
Titration - Carbimazole 40mg and reduced for 12-18 months to achieve euthyroid
Block and replace - Carbimazole 40mg. Add thyroxine when euthyroid
Radioiodine
- Contraindication - pregnancy, age <16, thyroid eye disease
Causes of gynaecomastia?
Drug causes?
Physiological Kallmanns/ Klinefelters Testicular Failure Liver disease Testicular Cancer Ectopic tumour Hyperthyroidism Haemodialysis
Drugs: Spironolactone Cimetidine Digoxin Cannabis Finasteride Gonadorelin analogue Oestrogen
Features of Hashimoto’s thyroiditis?
Autoimmune
Hypothyroid (although may be transient thyrotoxicosis)
Hypothyroid
Firm goitre, non-tender
Anti-TPO
Anti-Tg antibodies