Most patients with Defects in Steroid Hormone Biosynthesis 21-Hydroxylase Deficiency. If the patient has an XX karyotype and ambiguous genitalia, the most likely diagnosis is congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. This condition results in increased ACTH secretion, which, in turn, results in hyperpigmentation of the 17beta-Hydroxysteroid Dehydrogenase Deficiency. This defect impairs the conversion of androstenedione to testosterone in the testis. Sixty cases have been reported from one inbred community in the Gaza Strip.
Inheritance is autosomal recessive.