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Molecular study and genotype-phenotype in Chinese female patients with 46, XY disorders of sex development.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology - 1 Oct 2021

Xia Junke, Wu Jing, Chen Chen, Zhao Zhenhua, Xie Yanchuan, Bai Zhouxian, Kong Xiangdong

Abstract excerpt

OBJECTIVE: The rare condition 46, XY disorders of sex development (DSDs) is characterized by the female phenotype and male karyotype. We aimed to describe the genetic basis of 46, XY DSDs in nine patients and the genotype-phenotype relationships of the genes involved. METHODS: Targeted next-generation sequencing (NGS) was used to analyze the underlying hereditary etiology in nine female patients with 46, XY DSDs....

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Identifiers

PMID: 34338568
DOI: 10.1080/09513590.2021.1960307

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