Clinical characteristics, genetic spectrum and therapeutic effects of 51 male patients with idiopathic hypogonadotropic hypogonadism from southern China.

ABSTRACT:

Background

Idiopathic hypogonadotropic hypogonadism (IHH) is a set of rare diseases characterized by abnormal sexual development with clinical heterogeneity and genotypic complexity. This study aims to investigate the phenotypic and genotypic characteristics of male IHH in southern China, and evaluate the therapeutic effects of current treatments.

Methods

Fifty-one male IHH patients from southern China were enrolled in this study. Their clinical, imaging, hormonal and genetic findings were analyzed retrospectively.

Results

In this study, the most common causative gene of IHH was FGFR1 (45.10%), followed by ANOS1 (21.57%) and CHD7 (17.65%). Forty-five different variants, including 22 known and 23 novel variants, were found. The mean age at diagnosis was 7.84 ± 5.89 yea

SUBMITTER: Sheng H 

PROVIDER: S-EPMC12613655 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature