Congenital Adrenal Hyperplasia

Question 1

what is congenital adrenal hyperplasia

Answer 1

rare conditions associated with enzyme defects in the steroid pathway leading to a lack of aldosterone and cortisol production but too much androgen

Question 2

what is the most common defect in congenital adrenal hyperplasia

Answer 2

21alpha hydroxylase deficiency

autosomal recessive

Question 3

how does classical congenital adrenal hyperplasia present

Answer 3

Males
-adrenal insufficiency 
-poor weight gain 
-bicohem pattern similar to Addisons 
Females 
-genital ambiguity

Question 4

what are the two types of 21alpha hydroxylase deficiency

Answer 4

classical
non-classical
-hyperandrogenaemia

Question 5

how does non-classical congenital adrenal hyperplasia present

Answer 5

Hirsute 
acne 
oligomennorhoea 
precocious puberty 
infertility or sub-fertility

Question 6

treatment of CAH

Answer 6

glucocorticoid replacement
mineralocorticoid replacement (in some)
surgical correction to achieve maximal growth potential

in adults

• control androgen excess
• restore fertility
• avoid steroid over replacement

Question 7

what is phaechromocytoma

Answer 7

a rare tumour in the adrenal medulla

Question 8

what are some clues to phaechromocytoma

Answer 8

labile hypertension
postural hypotension
paroxysmal sweating, headache, pallor, tachycardia

Question 9

why is phaechromocytoma the 10% tumour

Answer 9

10% are malignant
10% are bilateral
10% are extra-adrenal
10% are familial

Question 10

what is the classical triad of phaechromocytoma

Answer 10

Hypertension
Headache
Sweating

often come on suddenly then go away

Question 11

what biochemical abnormalities are seen in phaechromocytoma

Answer 11

hyperglycaemia -adrenalin secreting tumours
may have low potassium
high haematocrit ie. raised Hb concentration
mild hypercalcaemia
lactic acidosis

Question 12

how do yo diagnose a phaeochromocytoma

Answer 12

indentify source of catecholamine excess (adrenaline act)

MRI scan abdominal and whole body

PET scan
MIBG 0 meta-iodobenxylguanidine?

Question 13

how to treat pheochromocytoma

Answer 13

full alpha and beta blockage

• phenoxybenzamine (alpha blocker)
• propanolol (b-blocker)

fluid and/or blood replacement

surgical laparoscopic

chemo if malignant

long-term follow up

genetic testing

family tracing and investigation