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

Eugenio Sangiorgi, Gf Zannoni, Vg Vellone, El Cordisco, Me Grimaldi, C Neri, L Nanni, G. Neri

Risultato della ricerca: Contributo in rivistaArticolo in rivista

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.
Lingua originaleEnglish
pagine (da-a)33-38
Numero di pagine6
RivistaInternational Journal of Gynecological Pathology
Volume29
DOI
Stato di pubblicazionePubblicato - 2010

Keywords

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

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