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.

FISH, PCR and cytogenetic characterization in a girl with ambiguous genitalia and karyotype mos46,X,iso(Y)(qter→p11.3::p11.3→qter)[80]/45,X[17]/46,X,+mar[3]

“…A newborn with mixed gonadal dysgenesis with persistence of müllerian ducts, two right testicles, one vestigial gonad on the left and the absence of Wolffian derivatives has been reported (Queipo et al, 2005). �he �aryotype 45,X/46,X,idic(�p) indicates that the brea�point occurred in �q, preserving the SR� gene.…”

Mix Gonadal Dysgenesis Associated with Ring Y Chromosome Mosaics in a Phenotypic Male

“…This condition has been termed mixed gonadal dysgenesis (MGD) [Sohval, 1963;Robboy et al, 1982;Telvi et al, 1999]. Internal genitalia on the testicular side are usually Wolffian derivatives while differentiation of the Fallopian tubes always occurs proximal to the streak, and a uterus is always present [Bergada et al, 1986;Pohlschmidt et al, 1991;Mendez et al, 1993;Pezzolo et al, 1993;Henegariu et al, 1997a, b;Chemes et al, 2003;Arnedo et al, 2005;Queipo et al, 2005;DesGroseilliers et al, 2006]. However, the 45,X/46,XY karyotype in these patients has no genotype-phenotype correlation.…”

Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report

“…This mosaicism and the phenotype led to a differential diagnosis between mixed gonadal dysgenesis (with a dysgenetic testis and a contralateral streak gonad) and Turner's syndrome. 7,8 Although the karyotyping studied in lymphocytes showed predominance of the Y line, the female differentiation can be explained by the predominance of the X line in the gonadal tissue. 1,3,9,10 Today, there is no consensus regarding the need to systematically look for Y material in Turner's syndrome cases with the 45,X karyotype, given the possibility of gonadoblastoma development.…”

“…There was no evidence of malignancy. [7]/47,XXY [2], and Turner's syndrome (Turner's mosaic) was diagnosed. Genetic study of the male progenitor gave normal results.…”