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Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature review

机译：分子细胞遗传学分析和遗传咨询：八分之八，XX男性及文献综述案例报告

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Background:46,XX male syndrome is a rare disorder that usually causes infertility. This study was established to identify the genetic causes of this condition in a series of 46,XX males through the combined application of cytogenetic and molecular genetic techniques.Case presentation:We identified eight azoospermic 46,XX males who underwent infertility-related consultations at our center. They all presented normal male phenotypes. In seven of the eight 46,XX males (87.5%), translocation of the SRY gene to the terminal short arm of the X chromosome was clearly involved in their condition, which illustrated that this translocation is the main mechanism of 46,XX sex reversal, in line with previous reports. However, one patient presented a homozygous DAX1 mutation (c.498G??A, p.R166R), which was not previously reported in SRY-negative XX males.Conclusions:We proposed that this synonymous DAX1 mutation in case 8 might not be associated with the activation of the male sex-determining pathway, and the male phenotype in this case might be regulated by some unidentified genetic or environmental factors. Hence, the detection of genetic variations associated with sex reversal in critical sex-determining genes should be recommended for SRY-negative XX males. Only after comprehensive cytogenetic and molecular genetic analyses can genetic counseling be offered to 46,XX males.? The Author(s). 2019.
机译：背景：46，XX男性综合征是一种罕见的疾病，通常会导致不孕症。建立了该研究以鉴定通过组织细胞遗传学和分子遗传技术的组合应用，确定了在46系列中这种情况的遗传原因.Case介绍：我们确定了八个无畏相关的咨询的八个八血糖46，XX男性中央。它们都呈现正常的男性表型。在八个46中的七个中，XX男性（87.5％），Sry基因的易位对X染色体的末端短臂的易位显然涉及其条件，这表明这种易位是46，XX性逆转的主要机制，符合以前的报告。然而，一名患者呈现出纯合的DAX1突变（C.498G？A，P.R166R），其先前未在Sry-Daly XX Males中报告.Conclusions：我们提出这个同义的DAX1突变在案件8中可能不是与雄性学判定途径的激活相关，在这种情况下，雄性表型可能受到一些身份不明的遗传或环境因素的调节。因此，对于患有乳酸阴性XX雄性，应推荐与临界性别测定基因中的性逆转相关的遗传变异的检测。只有在综合细胞遗传学和分子遗传分析后，遗传咨询都可以提供46，XX男性。作者。 2019年。

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