congential adrenal hyperplasia

Question 1

inheritance patter in congenital adrenal hyperplasia

-diagnosis of CAH

Answer 1

autosomal recessive

-ACTH stimulation testing (short synacthen)

Question 2

what do congenital adrenal hyperplasia conditions affect and what does this cause

Answer 2

adrenal steroid biosynthesis

-> due to resultant low cortisol levels the ant. pituitay secretees high levels of ACTH

ACTH - stimulates producion of adrenal androgens

Question 3

what can this increased ACTH production in congenital adrenal hyperplasia affect a female infant

Answer 3

can cause them to virilize (charactrists of male androgens)

Question 4

causes of congenital adrenal hyperplasia (3 different deficiencies)

Answer 4

21-hydroxlase deficiency (90%)

11-beta hydroxylase deficiecny (5%)

17-hyroxylase deficiency (very rare)

Question 4

causes of congenital adrenal hyperplasia (3 different deficiencies)

Answer 4

21-hydroxlase deficiency (90%)

11-beta hydroxylase deficiecny (5%)

17-hyroxylase deficiency (very rare)

Question 5

features of 21-hydroxylase deficeincy in congenital adrenal hyperplasia 3

Answer 5

virilisation of female genitalia

precocious puberty in males

60-70% of patients have a salt-losing crisis at 1-3wks of age

Question 6

features of 11-beta hydroxylase deficiency in congenital adrenal hyperplasia 4

Answer 6

virilisation of female genitalia

precocious puberty in males

hypertension

hypokalaemia

Question 7

features of 17-hydroxylase deficiency in congenital adrenal hyperplasia 3

Answer 7

non-virilising in females

inter-sex in boys

hypertension