A 7-year-old child presents to the paediatric clinic with amiguous genitalia increasing with age. On examination her height, weight and blood pressure were recorded within normal limits. Labia appeared bifid with 2 separate perineal openings, phallic length was 2.5 cm and no palpable gonads were noted in the inguinal region. USG shows presence of mullerian structures. The most probable diagnosis is-
Ans. is 'b' i.e., Simple virilizing congenital adrenal hyperplasia Among the given options only 21 hydroxylase is the common cause of ambiguous genitalia. Now the confusion arises, because 21-hydroxylase deficiency typically presents with salt wasting and hypotension, whereas the child in question is having normal BP. Actually, some forms (simple virilizing form) of 21-hydroxylase deficiency have normal BP and no salt loss. Type of 2 I -hydroxylase deficiency (A) Classic salt wasting form o This is a severe form of deficiency characterized by features of both glucocoicoid (coisol)/mineralocoicoid deficiency (salt wasting) and androgen excess. (Ambiguous genitalia in females). Males may be normal at bih. o This form typically manifests early, between 7-21 days of life and is a potentially life threatening condition. Classic simple virilizing form o Patients with classic simple virilizing form have impaired coisol biosynthesis but do not develop salt loss. o Clinical features are caused solely by overproduction of androgens. o The only manifestation is ambiguous genitalia in a female child with varying degrees of clitoral enlargement and labial fusion. o Depending on severity of clitoral enlargement and labial fusion, the diagnosis may be established at bih. However such patients may present in early childhood. (C) Non-classic (aquired/late) from o Patients with non-classical form or late onset form produce normal amount of coisol and/or aldosterone, but at the expense of producing excess androgens. o These usually present in childhood or early adulthood with premature pubarche & symptoms/signs of PCOD. Hirsuitism, Acne and Oligomenorrhea are the most common presenting features.
Classic Salt-Wasting 21 Hydroxylase deficiency
Simple virilizing congenital adrenal hyperplasia
Complete Androgen Insensitivity Syndrome
5-Alpha Reductase Deficiency