Endocrine pathologies

Question 1

Pheochromocytoma

Answer 1

a functional tumor within the adrenal medulla or pregangilionic sympathetic neurons

secretes adrenaline and noradrenaline uncontrollably.

this leads to a great rise in BP

palipations, headaches, diaphoresis

tx: beta blockers, phenoxylbenzoamine (alpha blocer)

Question 2

Sheehan’s syndrome

Answer 2

post partum haemorrhage
necrosis of the pituitary gland

can no longer produce TSH, LH, FSH, GH, ACTH, prolactin

diagnose with blood tests, hormones
give HRT for life.

Question 3

congenital adrenal hyperplasia

Answer 3

CAH is suspected in females who are virilised at birth, who become virilised postnatally or have precocious puberty or adrenarche.
Males with virilisation in childhood and infants of either sex with salt-wasting crisis in the first 4 weeks of life are likely to be affected.
It is due to 21-hydroxylase deficiency which accounts for 90% of cases.
This causes insufficient cortisol & aldosterone production which stimulates additional CRH & AcTh production. This leads to an additional production of androgens.
This leads to raised testosterone levels which can result in young girls developing body hair & other male features.
Additional symptoms include:
Hypotension
Hypoglycaemia
Hyponatraemia

Treatment:
Replacement of missing glucocorticoids & mineralocorticoids as well as AcTh supression

Question 4

Haemachromatosis

Answer 4

mutation in chromosome 6 coding the HFE gene
features of iron overload
bronze diabetes

Question 5

Wilson’s disease

Answer 5

inborn error of copper metabolism
deposition of copper in various organs (liver, cornea, basal ganglia of the brain

autosomal recessive
children with hepatic problems
young adults with neurological symptoms (dysarthria, tremor, involuntary movements, Kayser fletcher rings)

investigate: copper and caeruloplasmin levels. urinary copper. liver biopsy

treatment: penicillamine 1-1.5g daily (chelates the copper)
alternative tx: triene hydrochloride, zinc, tetrathiomylbdate.

Question 6

CAH

Answer 6

congenital adrenal hyperplasia
autosomal recessive disorder
caused by deficiency of one of the enzymes in the cortisol synthesis pathway

reduction in cortisol leads to an increase in ACTH (-ve feedback) which leads to a diversion of pathway into the production of androgenic steroid hormones

virilisation

Question 7

craniopharyngioma

Answer 7

visual symptoms due to compression of optichchiams by tutor

inferior temporal quadrant loss

Question 8

kallman syndrome

Answer 8

isolated deficiency in LHRH or LH/FSH
ansomina
clef palate
renal abnormalities
colour blindness
x linked inheritance