Genetic heterogeneity of XY gonadal dysgenesis (Swyer syndrome): H-Y antigen-negative XY gonadal dysgenesis associated with inflammatory bowel disease.

A 16 1/2-year-old girl was studied because of ileitis, lack of pubertal development, and primary amenorrhea. She had a 46,XY chromosome constitution in lymphocytes in fibroblasts without structural defects of X or Y. She was H-Y antigen negative. This observation supports the concept of causal heterogeneity of XY gonadal dysgenesis (Swyer syndrome). Two groups have been established: (1) H-Y antigen-positive forms, which are more common, possibly due to gonad-specific receptor defects (total failure or reduced receptor affinity), (2) H-Y antigen-negative forms possibly due to mutation in the H-Y generating system, either of the structural gene (presumably autosomal) or of a controlling gene (on the sex chromosomes). The H-Y antigen status may be of value in determining which patients are at risk for gonadoblastoma or dysgerminoma.
AuthorsE Passarge, U Wolf
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 8 Issue 4 Pg. 437-41 ( 1981) ISSN: 0148-7299 [Print] UNITED STATES
PMID7246614 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • H-Y Antigen
  • Adolescent
  • Crohn Disease (complications, genetics)
  • Female
  • Genetic Variation
  • Gonadal Dysgenesis (genetics)
  • Gonadal Dysgenesis, 46,XY (complications, genetics)
  • H-Y Antigen (genetics)
  • Humans
  • Karyotyping
  • Lymphocytes (cytology)

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