Gonadal dysgenesis in individuals with apparently normal chromosomal complements: tabulation of cases and compilation of genetic data. Article

cited authors

  • Simpson, JL; Christakos, AC; Horwith, M; Silverman, FS

fiu authors

abstract

  • Although usually associated with an abnormal sex chromosomal complement, gonadal dysgenesis is occasionally detected in individuals having apparently normal male (46,XY) or female (46,XX) chromosomal complements. Six individuals with XY or XX gonadal dysgenesis, four proven, two probable, are described. A review of histologically verified cases of XX and XY gonadal dysgenesis reveals frequent familial aggregation of affected individuals, a situation rarely encountered in the more frequent X-monosomic gonadal dysgenesis. Multiple affected sibs and frequent X-monosomic gonadal dysgenesis. Multiple affected sibs and frequent parental consanguinity suggest that XX gonadal dysgenesis is an autosomal recessive condition, while certain families suggest that XY gonadal Dysgenesis is an X-linked recessive or male-limited autosomal dominant condition.

publication date

  • May 1, 1971

start page

  • 215

end page

  • 228

volume

  • 7

issue

  • 6