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Case Report

A Case of Agonadism Associated With Y-Chromosome Rearrangement: Cytogenetic and Molecular Studies

YING-XIA CUI^*,

YI-CHAO SHI^*,

QI LIU^,

XIN-YI XIA^*,

From the Departments of ^* Reproduction and Genetics and Gynecology and Obstetrics, Jinling Hospital, Nanjing University School of Medicine, Nanjing, P. R. China.

Correspondence to: Xiao-Jun Li, Department of Reproduction and Genetics, Jinling Hospital, Nanjing University School of Medicine, 305 East Zhongshan Rd, Nanjing 210002, P. R. China (e-mail: lixiaojuncyx{at}yahoo.cn).

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)(pterq11.23::pterp11.31 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.

     Key words: XY agonadism, rearranged Y chromosome, SRY gene, SHOX gene, expression analysis