Agonadism with positive H-Y antigen

A 30-year-old phenotypic female was investigated because of absence of the vagina. Her serum gonadotropins were elevated while testosterone was in the normal range for females. Stimulation with human chorionic gonadotropin (hCG) gave no response of testosterone. No uterus, Fallopian tubes, Wolffian derivatives, or the gonads were found at laparotomy. Chromosome analysis showed a 46 , XY karyotype. The expression of the H-Y antigen was positive. The results suggest that testicular degeneration in agonadism is not caused by a defective H-Y antigen.     

无性腺症患者合并Y染色体结构重排的临床及细胞分子遗传学分析

目的无性腺症是罕见的,其分子机制尚不清楚。文中报道1例无性腺症患者合并Y染色体结构重排。方法染色体核型分析结合荧光染色体原位杂交（FISH）和聚合酶链反应-序列标签位点（PCR—STS）以确定患者核型。对SRY和SHOX基因进行序列分析。用反转录荧光定量PCR（RT—qPCR）对位于Y染色体长臂的AZFa上USP9Y基因和U吖基因进行表达分析。结果患者核型为46,X,der（Y）（pter→q11．23：：pter→p11．31 or p11．2：）．ishder（Y）（DYZ3＋,SRY＋＋,pter＋＋,qter-）。患者Ypter→p11．31或p11．2片段重复,q11．23→qter片段缺失,没有性染色体嵌合和常染色体结构畸变。SRY和SHOX基因测序未发现突变。Y染色体上的USP9Y基因和UTY基因几乎不表达。结论文中1例无性腺症患者合并Y染色体结构重排是首次报道,Y-连锁基因几乎不表达,提示Y染色体可能失活,推测是无性腺症和矮身材的原因。     

46,XY agonadism associated with adrenal adenoma/myelolipoma: report of a case analyzing Y-chromosome-specific sequences

A unique patient with 46,XY agonadism associated with adrenal adenoma/myelolipoma is described. The patient was an 18-year-old female with primary amenorrhea, lack of secondary sexual development and an aldosterone-producing adrenocortical adenoma associated with foci of myelolipoma. Molecular analyses of Y-chromosome-specific regions, including automated sequencing of the entire coding region of SRY, the Y-linked testis-determining gene, were performed. Our results excluded the possibility that a mutation in SRY was responsible for this unusual clinical combination.