Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia.
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.
Zannoni
Gian Franco
GF
Department of Pathology, Faculty of Medicine A. Gemelli, Catholic University of the Sacred Heart, Rome, Italy. gfzannoni@rm.unicatt.it
Vellone
Valerio Gaetano
VG
Cordisco
Emanuela Lucci
EL
Sangiorgi
Eugenio
E
Grimaldi
Maria Eufemia
ME
Neri
Caterina
C
Nanni
Lorenzo
L
Neri
Giovanni
G
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*