Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia

Int J Gynecol Pathol. 2010 Jan;29(1):33-8. doi: 10.1097/PGP.0b013e3181b52e75.

Abstract

Disorders of sexual development represent a pathologic and clinical challenge. Many different clinical syndromes exist, and several classifications have been proposed in relation to different risks for malignant degeneration. The morphology, cytogenetics, and immunophenotype of a monolateral ovotestis in a 3-month-old individual with ambiguous genitalia and right inguinal mass are reported. The inguinal mass consisted of a tiny female genital tract with a hermaphroditic gonad with focal placental-like alkaline phosphatase-stained gonocytes; chromosome analysis disclosed a mosaic constitution: 46,XderY/45,X with a rearranged Y chromosome. A sharp morphologic distinction between true hermaphroditism and mixed gonadal dysgenesis probably does not exist, and cytogenetic characterization is mandatory. The presence of placental-like alkaline phosphatase-stained gonocytes indicates a high risk of malignant transformation, and justifies the surgical removal of the dysgenetic gonad. Fertility is unlikely.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Aberrations*
  • Chromosomes, Human, X / genetics*
  • Chromosomes, Human, Y / genetics*
  • Female
  • Genitalia / pathology
  • Gonadal Dysgenesis / genetics
  • Gonadal Dysgenesis / pathology*
  • Humans
  • Immunohistochemistry
  • Immunophenotyping
  • Infant, Newborn
  • Male
  • Mosaicism
  • Ovary / pathology*
  • Testis / pathology*