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ea0035p212 | Clinical case reports Pituitary/Adrenal | ECE2014

Familial 46, XY gonadal dysgenesis

Yaker Fetta Amel , Azzoug Said , Chentli Farida

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 phal...