Endocrine Abstracts

46, XY disorders of sex development are rare diseases secondary to gonadal dysgenesis (GD) and disorders of androgens synthesis or action. Familial forms of GD are very rare; we report here the observations of two siblings with 46, XY GD.

The first patient whose parents were relatives, raised as a girl consulted at 3 years for ambiguous genitalia, at clinical exam we found a small phallus, partial fusion of labio-scrotal folds with one orifice at the phallic base and palpable gonads within the labio-scrotal structures. Pelvic ultrasound confirmed the presence of gonads; genitography found the presence of mullerian ducts derivatives, hormonal evaluation found low testosterone level with poor response to HCG stimulation, Barr body test was negative. The second sibling diagnosed during familial investigation was also reared as a girl; she was then aged 10 years. She had the same findings with ambiguous genitalia, presence of gonads in the inguinal canal, low testosterone level with poor response to HCG stimulation and a 46, XY karyotype. The two patients underwent bilateral gonadectomy in accordance with sex of rearing, and thereafter received estrogens treatment.

Knowledge of familial forms of GD allows diagnosis of other affected siblings and genetic counsel to the family.