A case of agonadism associated with y-chromosome rearrangement: cytogenetic and molecular studies.
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.
Cui
Ying-Xia
YX
Department of Reproduction, Jinling Hospital, Nanjing University School of Medicine, Nanjing, PR China.
Shi
Yi-Chao
YC
Liu
Qi
Q
Xia
Xin-Yi
XY
Lu
Hong-Yong
HY
Shao
Hai-Feng
HF
Jia
Li
L
Yao
Bing
B
Ge
Yi-Feng
YF
Li
Xiao-Jun
XJ
Huang
Yu-Feng
YF
D000293:Adolescent; D001827:Body Height / Q000235:genetics; D041322:Chromosomes, Human, Y; D005260:Female; D020440:Gene Duplication; D020869:Gene Expression Profiling; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015778:Minor Histocompatibility Antigens; D009687:Nuclear Proteins / Q000235:genetics*; D055748:SOXB1 Transcription Factors / Q000235:genetics; D012729:Sex Chromosome Aberrations; D000074122:Short Stature Homeobox Protein; D043222:Ubiquitin Thiolesterase / Q000235:genetics
D018398:Homeodomain Proteins; D015778:Minor Histocompatibility Antigens; D009687:Nuclear Proteins; C106071:SHOX protein, human; C490906:SOX1 protein, human; D055748:SOXB1 Transcription Factors; D000074122:Short Stature Homeobox Protein; C481724:USP9Y protein, human; C484453:UTY protein, human; D043222:Ubiquitin Thiolesterase