Male pseudohermaphroditism due to feminizing testicular syndrome discovered late in a case at Segou hospital (Mali)

Abstract

Abnormalities of sexual differentiation, also called sexual ambiguities, are congenital anomalies in which the chromosome, gonads or sexual anatomy are atypical. It is a very rare genetic disease, of recessive transmission linked to the X chromosome, currently called androgen insensitivity syndrome (AIS). The affected subjects are apparently normal women, but carrying a 46 XY male
karyotype with ectopic testes. We report a case of male pseudohermaphroditism, raised as a girl, single and who came to consult for primary amenorrhea and 2 painful swellings in the labia majora. On examination, the labia majora contained the 2 testicles, there was a 2cm vagina but she had no uterus or ovaries. Treatment consisted of bilateral orchiectomy and psychotherapy. The postoperative course was simple.