A Rare Cause of Male Infertility: 45,X/46,XY Mosaicism
A Rare Cause of Male Infertility: 45,X/46,XY Mosaicism
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DOI：
10.1159/000484615
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发表时间：
2018-01-01
影响因子：
1.6
通讯作者：
Ekmekcioglu, Oguz
中科院分区：
文献类型：
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作者：
Akinsal, Emre Can;Baydilli, Numan;Ekmekcioglu, Oguz
目的：目的：分析8例45，X/46，XY核型男性不育患者的临床、染色体及内分泌特点。材料与方法：对1999年至2015年期间在我院不孕不育门诊就诊的病例记录进行调查。8例45，X/46，XY。分析了临床、内分泌和染色体评估。对每位患者的身高、体重、体重指数、睾丸体积、内分泌激素水平、随访期精液分析、睾丸活检报告和染色体核型分析进行回顾性评价。结果：部分病例表现为身材矮小，但多为正常表型。其中7例睾酮水平正常，除1例外，所有病例促性腺激素水平均升高。所有病例均为无精子症，睾丸活检均为支持细胞综合征。外周血染色体核型均为45，X/46，XY嵌合体。分裂中期计数和百分比不同。结论：具有正常男性表型的45，X/46，XY嵌合体的个体构成了45，X/46，XY核型的罕见亚组。这些个体通常表现为不育，并在无精子症或严重少精子症评估期间根据核型分析结果进行诊断。(c)2017 S. Karger AG，巴塞尔
Objective: To present the clinical, chromosomal, and endocrinological features of 8 infertile male cases with the 45,X/46,XY karyotype who were admitted to our infertility clinic. Materials and Methods: The records of cases who were admitted to our infertility clinic between 1999 and 2015 were investigated. Eight cases with 45,X/46,XY were detected. The clinical, endocrinological, and chromosomal assessments were analyzed. Each patient's height, weight, body mass index, testicular volume, endocrine hormone levels, follow-up period semen analysis, testicular biopsy reports, and karyotype analysis were evaluated retrospectively. Results: Some cases had a short stature, but often their phenotypes were normal. Seven of the cases had normal testosterone levels and all cases, except one, had elevated gonadotropin levels. All cases were azoospermic and testicular biopsy showed Sertoli cell-only syndrome. Peripheral blood karyotype revealed 45,X/46,XY mosaicism in all cases. Metaphase counts and percentages were different. Conclusions: Individuals with 45,X/46,XY mosaicism that have a normal male phenotype form make up a rare subgroup of the 45,X/46,XY karyotype. These individuals usually present with infertility and were diagnosed based on the results of the karyotype analysis during azoo or severe oligospermia evaluation. (c) 2017 S. Karger AG, Basel