XX true hermaphroditism in southern African blacks: an enigma of primary sexual differentiation.

作者：Michèle Ramsay, Rinat Bernstein‐Molho, E. Zwane, David C. Page, T Jenkins · 发表于：PubMed · 年份：1988 · 被引用次数：61 · 研究领域：Sexual Differentiation and Disorders、Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities、Sperm and Testicular Function

A high incidence of 46,XX true hermaphroditism exists among southern African blacks. The gonadal distribution and clinical presentation of 38 patients are described. The aim of our study on 11 families with histologically proven XX true hermaphroditism was to determine whether a common genetic or environmental etiology could be identified. Pedigree analysis excluded the presence of a simple inheritance pattern, and no constant environmental factors could be implicated. Hybridization studies with Y chromosome--specific probes (pDP132, pDP61, pDP105, pDP31, pDP97, and pY431-HinfA) excluded the presence of a large portion of Yp in these patients. It is possible that smaller portions of the Y chromosome or one or more X-linked or autosomal mutations, either interacting and/or with incomplete penetrance, are present.