Pure gonadal dysgenesis, report of a case and review of the literature

ABSTRACT

We report a 16 year old phenotypic female who presented with delayed puberty. The patient had a eunuchoid habitus, no breast development and little pubic hair. External genitalia were normal. Serum gonadotropin levels were elevated but the plasma testosterone level was normal for a prepubertal woman. Karyotype of the peripheral blood showed a 46XY pattern- At laparotomy the patient was found to have an infantile uterus, normal fallopian tubes and bilateral streak gonads. Histological examination revealed bilateral small streak gonads with fibrofatty tissue