Reproductive Phenotypes and Genotypes in Men With IHH.

ABSTRACT:

Context

Isolated hypogonadotropic hypogonadism (IHH) is phenotypically and genetically heterogeneous.

Objective

This work aimed to determine the correlation between genotypic severity with pubertal and neuroendocrine phenotypes in IHH men.

Methods

A retrospective study was conducted (1980-2020) examining olfaction (Kallmann syndrome [KS] vs normosmic IHH [nHH]), baseline testicular volume (absent vs partial puberty), neuroendocrine profiling (pulsatile vs apulsatile luteinizing hormone [LH] secretion), and genetic variants in 62 IHH-associated genes through exome sequencing (ES).

Results

In total, 242 men (KS: n = 131 [54%], nHH: n = 111 [46%]) were included. Men with absent puberty had significantly lower gonadotropin levels (P < .001) and were more likely to

SUBMITTER: Dwyer AA 

PROVIDER: S-EPMC10211495 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature