A novel mutation of AMHR2 in two brothers with persistent Mullerian duct syndrome and their intracytoplasmic sperm injection outcome.

ABSTRACT:

Background

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).

Methods

Whole-exome sequencing (WES) was carried out. Sanger sequencing was used to detect mutations in AMHR2. The pathogenicity of the identified variant and its possible effects on the protein were evaluated with in silico tools. The expression level of AMHR2 was determined by Western blotting. The spermatogenic function

SUBMITTER: Fang J 

PROVIDER: S-EPMC8580084 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature