Endocrinology Flashcards
What is MODY?
Development of T2DM in <25 year olds
How is MODY inheirited?
Autosomal dominant
Causes majority of MODY
MODY 3
MODY 3 defect
HNF-1 alpha gene
MODY 3 risk
HCC
MODY 2 defect
Glucokinase gene
MODY 5 defect and associations
HNF-1 beta gene
Liver and renal cysts
MODY Rx
Sulfonylureas
SIADH causes (malignancy)
Small cell lung Ca
SIADH causes (neurological)
Stroke, SAH, SDH, infection
SIADH causes (infection)
TB
Pneumonia
SIADH causes (drugs)
sulfonylureas SSRIs, TCAs Carbamazepine Vincristine Cyclophosphamide
Primary hyperaldosteronism: causes
Bilateral adrenal hyperplasia (common)
Adrenal adenoma
Primary hyperaldosteronism: features
Hypertension, hypokalaemia, alkalosis
Primary hyperaldosteronism: Investigations
Aldosterone/renin ration (high aldosterone with low renin)
Urinary sodium >20
Hypovolaemia - diuretics, Addison’s
Euvolaemic - SIADH, hypothyroid
Urinary sodium <20
Losses
Hypovolaemia - d&v, sweating, burns, rectal adenoma
Hypervolaemic - HF, nephrotic syndrome, IV dextrose, psychogenic polydipsia
Gastroparesis: features
Erratic BMs, bloating and vomiting
Gastroparesis: Mx
metoclopramide, domperidone, erythromycin
Pendred’s syndrome
AR
Bilateral sensorineural deafness with hypothyroidism and goitre
MEN 1
Parathyroid, pituitary, pancreas
MEN1 gene
MEN 2a
Medullary thyroid, parathyroid, phaeochromocytoma
RET
MEN 2b
Medullary thyroid, phaeochromocytoma
Marfanoid, neuromas
RET
Urinary incontinence: urge Mx
- bladder retraining
- antimuscarinics
- mirabegron