title: Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia.
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.
authors: Department of Pathology, Faculty of Medicine A. Gemelli, Catholic University of the Sacred Heart, Rome, Italy. gfzannoni@rm.unicatt.it
authors: Gian Franco
authors: GF
authors: Zannoni
authors: Valerio Gaetano
authors: VG
authors: Vellone
authors: Emanuela Lucci
authors: EL
authors: Cordisco
authors: Eugenio
authors: E
authors: Sangiorgi
authors: Maria Eufemia
authors: ME
authors: Grimaldi
authors: Caterina
authors: C
authors: Neri
authors: Lorenzo
authors: L
authors: Nanni
authors: Giovanni
authors: G
authors: Neri
mesh_terms: D002869:Chromosome Aberrations; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D005835:Genitalia / Q000473:pathology; D006059:Gonadal Dysgenesis / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007150:Immunohistochemistry; D016130:Immunophenotyping; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D010053:Ovary / Q000473:pathology*; D013737:Testis / Q000473:pathology*