An infant with a 46XY karyotype was born with ambiguous genitalia, including microphallus and perineal hypospadias. A female gender was assigned due to extreme failure of development of the external genitalia. Subsequent investigations demonstrated panhypopituitarism, and it is believed that severe gonadotrophin deficiency was responsible for the intersex state. This case illustrates the need to evaluate the hypothalamic-pituitary axis in selected cases of intersex, and also questions the prevailing assumption that testosterone secretion during embryogenesis is largely pituitary gonadotrophin independent, under the control of human chorionic gonadotrophin.
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