Clinical and genetic analysis of an isolated follicle-stimulating hormone deficiency female patient.

ABSTRACT:

Objective

To characterize the clinical features of a female patient with isolated follicle-stimulating hormone (FSH) deficiency and to investigate the underlying mechanisms of FSH inactivation.

Methods

The proband was a 29-year-old woman with primary amenorrhea, impaired pubertal development, and infertility. Subsequently, reproductive endocrine was screened. DNA sequencing was conducted for the identification of FSHβ mutation. RT-PCR, western blots, in vitro immunometric assay, and bioassay were performed to confirm the impact of the mutation on FSH expression and biological activity. Molecular model consisting of FSHα and mutant FSHβ subunit was built for the structural analysis of FSH protein.

Results

The evaluation of reproductive endocrine revealed undetectable b

SUBMITTER: Zhu L 

PROVIDER: S-EPMC7311626 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature