Clinical and molecular features of 40 Chinese patients with idiopathic hypogonadotropic hypogonadism.

ABSTRACT:

Background

Male idiopathic hypogonadotropic hypogonadism (IHH) is a heterogeneous clinical rare genetic disorder that can be divided into two forms: Kallmann syndrome (KS) and olfactory normal IHH (nIHH). Nearly half of unknown pathogenic genes and related pathogenic mechanisms have yet to be explored.

Methods

Clinical data of 40 IHH patients (22 KS and 18 nIHH) were retrospectively recorded. All patients were diagnosed at the Department of Endocrinology of Jinling Hospital, Jiangsu Provincial People's Hospital, and the First Affiliated Hospital of the University of Science and Technology of China from 2014 to 2021. The proband genomic DNA (gDNA) was confirmed by whole exome sequencing (WES) and Sanger sequencing.

Results

Ten new genetic mutations related to IHH in fo

SUBMITTER: Wang Y 

PROVIDER: S-EPMC10560348 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature