title: Mixed gonadal dysgenesis: histological and ultrastructural findings in two cases.
abstract: Mixed gonadal dysgenesis (MGD) is an intersex genetic abnormality characterized by a streak gonad and a contralateral testis (that is typically cryptorchid) or bilateral streak testes. A uterus and one or both fallopian tubes also may be present. The external genitalia are frequently ambiguous. We studied two phenotypic "females" with MGD. One had a mosaic 45X (40%) and 46XYq (60%) karyotype, a left streak gonad, and a small testis in a right inguinal hernia, whereas the other had a 46XY karyotype, a left streak gonad, and, on the right, a testis with gonadoblastoma. On histological and ultrastructural examination the testis in the first case showed prepubertal tubules lined by a few spermatogonia and immature Sertoli cells with asynchronism in nuclear-cytoplasmic maturation. Ultrastructural examination of the gonadoblastoma in the second case showed neoplastic Sertoli cells. Irregular maturation of Sertoli cells appears to be a feature of MGD. Gonadal extirpation and pathological examination in these cases are important in order to make the correct diagnosis and prevent neoplastic changes.
authors.affiliation: Department of Pathology, University of Padova Medical School, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Calabrese
authors.forename: M
authors.initials: M
authors.lastname: Valente
mesh_terms: D000293:Adolescent; D002648:Child; D005260:Female; D006060:Gonadal Dysgenesis, Mixed / Q000473:pathology*; D018238:Gonadoblastoma / Q000473:pathology* / Q000648:ultrastructure*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008854:Microscopy, Electron; D010051:Ovarian Neoplasms / Q000473:pathology* / Q000648:ultrastructure*; D013737:Testis / Q000473:pathology* / Q000648:ultrastructure*