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

Abstract

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.

• Authors: C A Moreira-Filho, S P Toledo, V R Bagnolli, O Frota-Pessoa, H Bisi, A Wajntal
• Journal: Human genetics (Hum Genet) Vol. 53 Issue 1 Pg. 51-6 ( 1979) ISSN: 0340-6717 [Print] Germany
• PMID: 535902 (Publication Type: Case Reports, Journal Article)

Chemical References

• H-Y Antigen

Topics

• Adolescent
• Adult
• Cytotoxicity Tests, Immunologic
• Female
• Genetic Counseling
• Gonadal Dysgenesis (genetics)
• Gonadal Dysgenesis, 46,XY (classification, genetics, immunology, physiopathology)
• H-Y Antigen (genetics)
• Humans
• Hypothalamo-Hypophyseal System (physiopathology)
• Pedigree
• Phenotype
• Risk