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

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.
AuthorsC A Moreira-Filho, S P Toledo, V R Bagnolli, O Frota-Pessoa, H Bisi, A Wajntal
JournalHuman genetics (Hum Genet) Vol. 53 Issue 1 Pg. 51-6 ( 1979) ISSN: 0340-6717 [Print] GERMANY, WEST
PMID535902 (Publication Type: Case Reports, Journal Article)
Chemical References
  • H-Y Antigen
  • 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

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