17β-hydroxysteroid dehydrogenase-3 deficiency in disorder of sex development

A 29 years old patient, claimed to be a male, presented to us with pubertal gender swing from female to male. Since birth he was reared as a female child. His breasts, axillary hairs and pubic hairs developed at about 11-12 years of age. At that time he also observed the mental and physical changes towards a male. He began to feel sexual attraction towards females due to enlargement of his phallus and he preferred to behave as a male. The patient further noticed deepening of voice as well as appearance of facial hairs at about 15 years of age. He never experienced menstruation. His parents are first degree cousins. On examination, there was facial hairs in upper lip and chin (G3), breasts were in mature stage (B5), pubic hairs were darker, coarser and curlier and spreading sparsely (P3), and stretched dorsal phallic length was 6cm. In perineoscrotal area, there was hypospadias with blind vaginal pouch, partially fused, pigmented & ruggated bilateral labio-scrotal folds and soft palpable ellipsoid gonads measuring about 8 ml (each) in volume within labio-scrotal folds. Ultrasound examination revealed no uterus and karyotyping test found 46XY. Provisionally, he was diagnosed as a case of 46,XY Disorders of Sex Development (DSD). On further investigations, serum testosterone was low, serum LH and DHEA were raised and serum electrolytes were normal. From history, physical examination and investigations we diagnosed the case as 46,XY DSD due to 17β-hydroxysteroid dehydrogenase-3 deficiency.