Table 3.

Characteristics of 46, XX disorders of sex development due to androgen excess

	Inheritance and Gene	Genitalia	Wolffian duct derivatives	Müllerian duct derivatives	Gonads	Typical signs and symptoms	Hormone profile
21-hydroxylase def	Autosomal Recessive, CYP21A2	Ambiguous	Absent	Normal	Ovary	Severe adrenal insufficiency in infancy ± salt loss; moderate to severe androgenization at birth	Decreased cortisol and/or mineralocorticoids.
							Increased 17-hydroxyprogesterone, 21-deoxycortisol, androstenedione, testosterone, and/or plasma renin (activity)
11β-hydroxylase def	Autosomal Recessive, CYP11B1	Ambiguous	Absent	Normal	Ovary	Adrenal insufficiency in infancy; moderate to severe androgenization at birth; arterial hypertension often developing at different ages	Decreased cortisol, corticosterone, aldosterone, and/or plasma renin (activity)
							Increased 11-deoxycortisol, 11-deoxycorticosterone, androstenedione, testosterone
3β-hydroxysteroid dehydrogenase II def	Autosomal Recessive, HSD3B2	Commonly clitoromegaly or mild virilization, also normal	Absent	Normal	Ovary	Severe adrenal insufficiency in infancy ± salt loss, androgenization during childhood and puberty, premature pubarche	Increased concentrations of Δ5 C21- and C19- steroids, 17 hydroxypregnenolone and DHEA suppressible by dexamethasone
P450 oxidoreductase def	Autosomal Recessive, POR	Ambiguous or normal female	Absent	Normal	Ovary	Variable androgenization at birth and puberty, glucocorticoid deficiency, features of skeletal malformations.	Combined P450c17 and P450c21 insufficient, normal or low cortisol with poor response to ACTH stimulation, elevated 17-hydroxyprogesterone, testosterone, progesterone and corticosterone; low oestradiol.
						Maternal androgenization during pregnancy onset second trimester possible
P450 aromatase def	Autosomal Recessive, CYP19A1	Ambiguous	Absent	Normal	Ovary	Delayed bone age, development of ovarian cysts during infancy, childhood and puberty. Maternal androgenization during pregnancy	High androgens in cord blood, androgens may stay elevated or normalize soon after birth