Full 2L QBank
Pediatrics Genetic and genetic disorders ef9b3446

Adrenogenital syndrome is most commonly caused by?

A
21 a hydroxilase deficiency
B
17 a hydroxylase deficiency
C
3 ss hydroxylase deficiency
D
Steroid sulfatase deficiency
High-Yield Explanation
The most common type of congenital adrenal hyperplasia is deficiency of in boys--that becomes prominent as the child grows. There may also be decreased production of , low serum sodium concentrations (hyponatremia), and high serum <a href=" deficiency</a> accounts for 95% of all cases of CAH and is inherited in an autosomal recessive pattern. It is due to a mutation of the CYP21 gene. It can occur in a classical or nonclassical form. The incidence of the classical form of CAH is roughly 1:15 000, while that of the nonclassical form is approximately 1:100. Classical CAH can be fuher divided into a salt-wasting form (75%) and a simple virilizing form (25%). 21-Hydroxylase is necessary for the production of coisol and aldosterone. Lack of this enzyme shunts intermediate steroid precursors toward androgen production. Symptoms are related to excess androgens and, in the salt-wasting form of classical CAH, decreased aldosterone. Aldosterone is necessary for normal sodium retention and potassium secretion by the kidney. Reference: GHAI Essential pediatrics, 8th edition

Related Pediatrics MCQs

Practice 2,00,000+ NEET PG Questions Free

Timed mock tests, mistake queue analytics, audio lectures & zero attempt limits on i❤️Exams.

Start Free Mock Test Now