A Case of Agonadism Associated With Y‐Chromosome Rearrangement: Cytogenetic and Molecular Studies
Open Access
- 12 November 2009
- journal article
- case report
- Published by Wiley in Journal of Andrology
- Vol. 30 (6) , 650-654
- https://doi.org/10.2164/jandrol.108.006353
Abstract
Testicular regression syndrome (MIM273250) is characterized primarily by absence of gonads in a person of XY karyotype. Phenotypes range from complete female external genitalia (primary or “true” agonadism) to male phenotype with anorchia (testicular regression). Phenotypic differences depend on the stage of embryo development during which testes degenerate. No conclusive mapping can be concluded for the phenotype. We describe a novel case of primary agonadism with a karyotype of 46,X,der(Y)(pter→q11.23::pter→p11.31 or p11.2:). Transcriptional analysis revealed little expression of USP9Y and UTY genes on the Y chromosome in our case, which would explain her phenotypes of agonadism with short stature.Keywords
This publication has 16 references indexed in Scilit:
- Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiencyJournal of Medical Genetics, 2007
- Mosaic ring Y chromosome in two normal healthy men with azoospermiaFertility and Sterility, 2005
- A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: Cytogenetics, molecular, and methylation studiesAmerican Journal of Medical Genetics Part A, 2005
- Delayed Sry and Sox9 expression in developing mouse gonads underlies B6-YDOM sex reversalDevelopmental Biology, 2005
- Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndromeNature Genetics, 1997
- Phenotype/Karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed casesAmerican Journal of Medical Genetics, 1994
- Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: A new autosomal recessive syndromeAmerican Journal of Medical Genetics, 1993
- Deletion of Y chromosome sequences located outside the testis determining region can cause XY female sex reversalNature Genetics, 1993
- Expression of a candidate sex-determining gene during mouse testis differentiationNature, 1990
- The XY Gonadal Agenesis SyndromeJournal of Medical Genetics, 1973