Variety of genetic defects in GnRH and hypothalamic-pituitary signaling and development in normosmic patients with IHH.

ABSTRACT:

Introduction

Normosmic isolated hypogonadotropic hypogonadism (nIHH) is a clinically and genetically heterogeneous disorder. Deleterious variants in over 50 genes have been implicated in the etiology of IHH, which also indicates a possible role of digenicity and oligogenicity. Both classes of genes controlling GnRH neuron migration/development and hypothalamic/pituitary signaling and development are strongly implicated in nIHH pathogenesis. The study aimed to investigate the genetic background of nIHH and further expand the genotype-phenotype correlation.

Methods

A total of 67 patients with nIHH were enrolled in the study. NGS technology and a 38-gene panel were applied.

Results

Causative defects regarded as at least one pathogenic/likely pathogenic (P/LP) variant wer

SUBMITTER: Kaluzna M 

PROVIDER: S-EPMC11246878 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature