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H-Y antigen in Swyer syndrome and the genetics of XY gonadal dysgenesis

✍ Scribed by C. A. Moreira-Filho; S. P. A. Toledo; V. R. Bagnolli; O. Frota-Pessoa; H. Bisi; A. Wajntal

Publisher: Springer
Year: 1979
Tongue: English
Weight: 871 KB
Volume: 53
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00289451

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✦ Synopsis

The H-Y antigen is a plasma membrane antigen involved in the organogenesis of the mammalian testis. Its expression on human cells is determined by a Y-linked gene. Phenotypic females affected by 46,XY gonadal dysgenesis (Swyer's syndrome) can be either H-Y-positive or H-Y-negative. In this paper we report H-Y antigen and endocrine studies in a sibship with three affected sisters. Immunological studies were performed on two of the patients, and a clearly positive expression was detected in both cases. Endocrine studies consisted in the investigation of the hypothalamic-pituitary-gonadal axis, which revealed that gonadal hormone insufficiency is the only endocrine abnormality associated with the syndrome. A new genetic interpretation and calssification of XY gonadal dysgenesis is proposed.

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