Infertility and multiple urogenital abnormalities in a male with mosaic 46,XY/45,XO/47,XXY karyotype and mixed phenotype

Urol Int. 1998;61(2):111-4. doi: 10.1159/000030299.

Abstract

We hereby present a rare case of a 46,XY/45,XO/47,XXY mosaic male patient with a predominance of the XY cell line. The patient, who exhibited phenotypic stigmata of both XO gonadal dysgenesis and Klinefelter syndromes, suffered from infertility and multiple urogenital abnormalities, as our investigation revealed.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Cell Line
  • Follow-Up Studies
  • Gonadal Dysgenesis, 46,XY / diagnostic imaging
  • Gonadal Dysgenesis, 46,XY / genetics*
  • Gonadal Dysgenesis, 46,XY / pathology
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infertility, Male / diagnostic imaging
  • Infertility, Male / genetics
  • Infertility, Male / pathology
  • Karyotyping
  • Klinefelter Syndrome / diagnostic imaging
  • Klinefelter Syndrome / genetics*
  • Klinefelter Syndrome / pathology
  • Male
  • Middle Aged
  • Mosaicism / genetics*
  • Noonan Syndrome / diagnostic imaging
  • Noonan Syndrome / genetics*
  • Noonan Syndrome / pathology
  • Phenotype
  • Sex Chromosome Aberrations / genetics*
  • Sex Chromosomes
  • Urinary Calculi / diagnosis
  • Urinary Calculi / therapy
  • Urogenital Abnormalities / diagnostic imaging
  • Urogenital Abnormalities / genetics*
  • Urogenital Abnormalities / pathology
  • Urography