Author(s):
Martins, J.M. ; Fraga, M. ; Miguens, J. ; Tortosa, F. ; Marques, B. ; Sousa, A.D.
Date: 2017
Persistent ID: http://hdl.handle.net/10400.18/4831
Origin: Repositório Científico do Instituto Nacional de Saúde
Subject(s): Neonatal Hypogonadism; Pituitary Gonadotrophic Adenoma; Sex Reversal; Doenças Genéticas; Genética Humana
Description
Disorders of sex development generally present in the neonatal period with ambiguity of external genitalia. We report a very old male patient presenting at 75 years because of panhypopituitarism and a large nonsecreting pituitary macroadenoma secondary to long-standing primary hypogonadism due to 46,XX sex reversal disorder now first diagnosed. Sex development disorders may go unrecognised for the entire life span, despite infertility and long-standing primary gonadic failure may lead to uncommon complications.