CLINICAL, HISTOLOGICAL AND CYTOGENIC OBSERVATIONS IN PURE GONADAL DYSGENESIS

Abstract

ABSTRACT Clinical observations, gonadal histology and cytogenic studies are described in eight cases of pure gonadal dysgenesis. The general appearance of the patients was feminine. They had never menstruated spontaneously. Most cases showed eunuchoidal body proportions and absence of breast development. The external genitalia were infantile. All patients had the streak gonads which consisted of undifferentiated embryonic stroma without any germinal elements. The gonadotrophin level was normal or high. In four cases, apparently normal male karyotype and in three cases apparently normal female karyotype was found. In one case chromosomal mosaic XO/XX was encountered. No clinical or histological differences between patients with male and female karyotype were found, except for phallic enlargement which was present in three out of four cases with male chromosome complement.