Congenitial Adrenal Hyperplasia

STEROIDOGENIC PATHWAY

 

 

These group of the diseases encompasses several autosomal-recessive disorders with deficiency of one of the enzymes involved in synthesis of cortisol, aldosterone or both of them and clinical characteristic will be dependent on the degree of the deficiency of cortisol or aldosterone.

 

another good table I found on Medscape resource:

 

Enzymes and corresponding genes:

2 copies of a bad gene are required for the disorder to occur.

 

 

Clinical findings in males:

• near total 21-hydroxylase deficiency: neonates in 1-4 weeks  have failure to thrive, vomiting, dehydration, hypotension, hypoNa, hyperK, shock: classic salt-losing syndrome
• in male-infants near total 21-hydroxylase deficiency  will be diagnosed as a gastroenteritis (by mistake) or even pylorostenosis
• males with 17 - hydroxylase deficiency or 3 - beta-hydroxysteroid deficiency will have ambiguous genitalia or female genitalia because of insufficient testosterone production in the first trimester of fetal life.

Clinical findings in females:

• ambiguous genitalia at birth due to excess of adrenal androgen in utero
• mild form of 21-hydroxylase deficiency is usually diagnosed later in life because of precocious pubic hair, clitoromegaly, accelerated skeletal growth
• easy form of 21-hydroxylase deficiency may be presented in adolescence or adulthood with oligomenorrhea, hirsutism, infertility
• females with 17 - hydroxylase deficiency are females phenotypically but they do not develop breast or menarche in adolescence because of inadequate estradiol secretion.