Endocrinology 1 Flashcards
Longest acting insulin
Degludec followed by Glargine/ Determir
Most rapid acting onset insulin
Fiasp
Urea cycle disorder -X linked = deficiency in what?
What the deficient enzyme does?
Ornithine transcarbamylase - final act in converting Ammonium to urea
What test highly suggestive of Urea cycle disorder?
High Plasma ammonia + Normal blood glucose and lactate
Hypokalemic periodic paralysis - what channel mutation?
Voltage gated CALCIUM channel
Wolffian ducts differentiate into?
Mullerian ducts differentiate into?
Wolffian = Male internal tract + genitalia
Mullerian = female internal tract + genitalia
Androgen resistance what happens?
External phenotype feminised but no internal reproductive tracts at all
Testicular dysgenesis what happens?
Testes development in utero is poor
-decreased androgen and mullerian regression factor secretion
SO Mullerian duct may differentiate -female internal tract
Wolffian duct requires what hormone to differentiate - internal tract and external male genitalia?
Internal male tract = Testosterone
External male genitalia (scrotum,penis) = Dihydrotestosterone
‘Penis-at-twelve’ syndrome - deficient of what hormone?
congenital 5a reductase syndrome
Graves disease with orbitopathy - what treatment is contraindicated?
Radioiodine - it worsens it
Octreotide known to cause what?
Gallstones
GRA pathophysiology and treatment?
Glucocorticoid remediable aldosteronism - rare cause of primary hyperaldosteronism
High aldosterone due to stimulation by ACTH
- steroids given to suppress ACTH - if work then it is GRA
Cortisol inhibits what and vice versa?
ADH
1st line treatment in nephrogenic DI?
2nd line treatment in nephrogenic DI?
1st - low sodium diet
2nd - Thiazide - paradoxical - Anti diuretic effect but mechanism unknown
Angular cheilitis/glossitis commonest cause?
Fungal candida (commonest) 2nd is Vit B2 deficiency (riboflavin)
Nuclear receptor are?
Receptor that binds to steroid hormone or thyroid hormones - regulates gene transcription and translation
Classical complication of hemochromatosis
hypogonadotrophic hypogonadism
what hormones promotes satiety?
Leptin CCK Amylin Insulin GLP-1
Biotin causes what?
False positive Graves picture
-Low TSH and high T3/T4
Deiodinases 1 is found in which organ
Deiodinases 3 is found where?
D1 = liver/kidney/thyroid
D3 is widespread
D2 is other organs apart from D1
SERM shown to?
ONLY REDUCE VETEBRAL FRACTURES
Pseudohypoparathyroidism main problem?
CaSR mutation - doesn’t sense CA
Acromegaly versus gigantism?
Acromegaly - GH excess before epiphyses fused
Gigantism - GH excess after epiphyses fused
Water deprivation test measure what?
Copeptin (derived from arginine vasopressin aka ADH)
- failure to rise >5 = partial or complete Diabetic insipidus
Apart from GLP1-agonist, what else use to reduce weight?
Topiramate
Phentermine - suppresses appetite
Changes to which type of Ca will affect PTH?
ionised Calcium
G protein - what turns it on and off?
G protein function?
Turn on = GTP
Turn off = GDP
1.molecular switch within cells
-Gas - cAMP = signal transduction for many hormones
+GNRH/CRH/ACTH/TSH/LH/FSH
-Gaq -stimulate ACEII = blood control
-Gai -inhibit cAMP from ATP
HyperParathyroid = surgery indications?
Ca > 2.8 24 hours urine > 10 Age < 50 eGFR < 60 BMD < 2.5 / fragility #
BORED - BMD
24 hours CAGE
Pseudohypoparathyroidism
Type 1A
Type 1B
Type 1A - GNAS mutation
Mom- TSH/PTH hormone resistance
Dad - Short stature - osteodystrophy
Type 1B - GNAS normal + imprinting/methylation
Hypocalcemia