True hermaphroditism in 45,X/46,XY mosaicism

Horm Res. 1992;37(6):241-4. doi: 10.1159/000182320.

Abstract

This report discusses the clinical findings on two patients with 45,X/46,XY mosaicism, two boys presented with penile hypospadias and cryptorchidism. A dysgenetic ovary and a testis were found in one boy, and a dysgenetic ovary in the other. Both patients can be considered to be true hermaphrodites on the basis of histology and clinical and hormonal observations. 45,X/46,XY mosaics have a wide range of phenotypic appearances and their gonadal morphology can also show great differences. However, the incidence of true hermaphroditism in individuals with 45,X/46,XY mosaicism is low and the reports in the literature rare. It is likely that males with 45,X/46,XY who suffer only mild maldevelopment of the external genitalia will not be recognized. In all patients with penoscrotal hypospadias and cryptorchidism with 45,X/46,XY mosaicism, the possibility of true hermaphroditism should be considered.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Cryptorchidism / genetics
  • Disorders of Sex Development / genetics*
  • Disorders of Sex Development / pathology
  • Female
  • Gonadal Dysgenesis, Mixed / genetics*
  • Gonadal Dysgenesis, Mixed / pathology
  • Humans
  • Hypospadias / genetics
  • Male
  • Mosaicism*
  • Ovary / abnormalities
  • Phenotype
  • Testis / abnormalities
  • X Chromosome
  • Y Chromosome*