A novel mutation of AMHR2 in two brothers with persistent Müllerian duct syndrome and their intracytoplasmic sperm injection outcome,Molecular Genetics & Genomic Medicine

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A novel mutation of AMHR2 in two brothers with persistent Müllerian duct syndrome and their intracytoplasmic sperm injection outcome
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2021-09-04 , DOI: 10.1002/mgg3.1801
Jianzheng Fang ₁ , Gao Gao ₂ , Jinyong Liu ₁ , Lingbo Cai ₁ , Yugui Cui ₁ , Xiaoyu Yang ₁

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Persistent Müllerian duct syndrome (PMDS) is defined as the presence of Müllerian duct derivatives in an otherwise normally virilized 46, XY male. It is usually caused by homozygous or compound heterozygous mutations in either the anti-Müllerian hormone (AMH) or AMH receptor type 2 (AMHR2) genes. The main purpose of the study is to determine the novel mutations of AMHR2 in PMDS patients and their intracytoplasmic sperm injection outcomes (ICSI).

中文翻译：

患有持续性苗勒管综合征的两兄弟的 AMHR2 新突变及其胞浆内精子注射结果

持续性苗勒管综合征 (PMDS) 被定义为在正常男性化的 46 岁 XY 男性中存在苗勒管衍生物。它通常是由抗苗勒管激素 ( AMH ) 或 AMH 受体 2 ( AMHR2 ) 基因中的纯合或复合杂合突变引起的。该研究的主要目的是确定 PMDS 患者中 AMHR2 的新突变及其胞浆内精子注射结果 (ICSI)。

更新日期：2021-11-10

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