title: Unusual mixed gonadal dysgenesis associated with Müllerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype.
abstract: Mixed gonadal dysgenesis (MGD) is a developmental anomaly in which most of the patients have a dysgenetic testis, a contralateral streak and a 45,X/46,XY karyotype. This entity involves an heterogeneous group of gonadal and phenotypic abnormalities with a wide clinical spectrum. The phenotype depends on the ratio of testicular tissue which induces virilization. Although the karyotype in these patients is 45,X/46,XY, no genotype-phenotype correlation has been found to date. Müllerian ducts persistence (MDP) in MGD is rare; however, four patients with both entities and different karyotypes have been described. Here we present the data on a newborn patient with an atypical MGD associated with MDP, two left testes, a gonadal streak on the right, and absence of Wolffian derivatives. PCR analysis identified all the Y-derived sequence tested in the father, while the patient had them all except the AZF b,c regions which were lost. FISH analysis of the paternal Y chromosome documented Yq paracentric inversion while the patient's karyotype was 45,X/46,X,idic(Yp). No mutations were observed in MIS/MISRII genes.
authors: Department of Human Genetics, Hospital General de México, México.
authors: Gloria
authors: G
authors: Queipo
authors: Karem
authors: K
authors: Nieto
authors: Patricia
authors: P
authors: Grether
authors: Sara
authors: S
authors: Frías
authors: Rebeca
authors: R
authors: Alvarez
authors: Icela
authors: I
authors: Palma
authors: Luis
authors: L
authors: Eraña
authors: Yolanda R
authors: YR
authors: Peña
authors: Susana
authors: S
authors: Kofman-Alfaro
mesh_terms: D002871:Chromosome Banding; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008957:Models, Genetic; D009095:Mullerian Ducts / Q000002:abnormalities*; D013737:Testis / Q000002:abnormalities*