Genetic Approaches for Sex Determination of Chinese Female with Male Pseudohermaphroditism

Li Lai, Xiaoli Huang, Shuning Zhang, Yichen Wu, Siyuan Yang, Zonglin Zhu
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Abstract

Abstract Male pseudohermaphroditism is a rare disorders of sex development (DSD) that is manifested by a female-like appearance or incompletely differentiated external genitalia in an individual with a Y chromosome. In this paper, we report our investigation of the case of a 33-year-old Chinese female who was diagnosed with a malignant mixed germ-cell tumor of the ovary. To confirm the sex of the female, we utilized genetic approaches to detect amelogenin and Y-STR loci. Y chromosome microdeletion was performed to identify existing deletions in the AZF regions and SRY. Chromosome karyotyping and whole-exome sequencing (WES) were then applied to reveal the deletion of sex chromosome segments and pathogenic variations in DNA sequences. Using DNA-STR genotyping, we detected both AMEL-X and AMEL-Y fragments. We also found haplotype Y-STR loci and detected all alleles. Furthermore, no microdeletion was detected in the AZF regions and SRY. The chromosome karyotyping was 46, XY. WES revealed a transversion mutation of 58T → C in the androgen receptor exon 1, which could be the pathogenic variant in this case of abnormal sexual development. Sex determination in forensic DNA typing is based on the amelogenin system. It is important that forensic biologists should master various genetic approaches to overcome the issue of gender ambiguity caused by DSDs.
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中国男性假雌雄同体女性性别决定的遗传方法
男性假两性畸形是一种罕见的性发育障碍(DSD),表现为具有Y染色体的个体具有女性样外观或外生殖器不完全分化。在本文中,我们报告了一例33岁的中国女性被诊断为卵巢恶性混合生殖细胞瘤的病例。为了确认女性的性别,我们利用遗传学方法检测了淀粉原蛋白和Y-STR基因座。进行Y染色体微缺失以鉴定AZF区域和SRY中存在的缺失。然后应用染色体核型和全外显子组测序(WES)来揭示性染色体片段的缺失和DNA序列的致病变异。通过DNA-STR基因分型,我们检测了AMEL-X和AMEL-Y片段。我们还发现了单倍型Y-STR位点,并检测了所有等位基因。此外,在AZF区域和SRY中未检测到微缺失。染色体核型为46,xy。WES发现在雄激素受体外显子1上有58T→C的翻转突变,这可能是本例性发育异常的致病变异。法医DNA分型中的性别决定是基于淀粉原蛋白系统的。法医生物学家应掌握各种遗传学方法来克服由dsd引起的性别歧义问题。
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来源期刊
CiteScore
0.40
自引率
0.00%
发文量
6
审稿时长
39 weeks
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