Unusual mixed gonadal dysgenesis associated with Müllerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype.
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.
Queipo
Gloria
G
Department of Human Genetics, Hospital General de México, México.
Nieto
Karem
K
Grether
Patricia
P
Frías
Sara
S
Alvarez
Rebeca
R
Palma
Icela
I
Eraña
Luis
L
Peña
Yolanda R
YR
Kofman-Alfaro
Susana
S
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*