Which of the following statement about congenital adrenal hyperplasia is not true
Congenital adrenal hyperplasia are any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of mineralocoicoids, glucocoicoids or sex steroids from cholesterol by the adrenal glands (steroidogenesis).Most of these conditions involve excessive or deficient production of sex steroids and can alter development of primary or secondary sex characteristics in some affected infants, children or adults hypokalemia alkalosis is not seen Each form of CAH is associated with a specific defective gene. The most common type (90-95% of cases) involves the gene for 21-hydroxylase, which is found on 6p21.3 as pa of the HLA complex. 21-Hydroxylase deficiency results from a unique mutation with two highly homologous near-copies in series consisting of an active gene (CYP21A2) and an inactive pseudogene (CYP21A1P)Mutant alleles result from recombination between the active and pseudogenes (gene conversion). About 5% of cases of CAH are due to defects in the gene encoding 11b-hydroxylase and consequent 11b-hydroxylase deficiency. Other, more rare forms of CAH are caused by mutations in genes including HSD3B2 (3b-hydroxysteroid dehydrogenase 2), CYP17A1 (17a-hydroxylase/17,20-lyase), CYP11A1 (P450scc; cholesterol side-chain cleavage enzyme), STAR (steroidogenic acute regulatory protein; StAR), CYB5A (cytochrome b5), and CYPOR (cytochrome P450 oxidoreductase; POR). Ref Robbins 9/e pg 155
21 -alpha hydroxylase deficiency is the most common cause
Males present with precocious pubey
Females present with ambiguous genitilia
Hypokalemic alkalosis is seen
Genetics