New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.

ABSTRACT:

Introduction

Congenital hypogonadotropic hypogonadism results from a dysfunction of the hypothalamic-pituitary-gonadal axis, which is essential for the development and function of the reproductive system. It may be associated with anosmia, referred to as Kallmann syndrome, or a normal sense of smell. Numerous studies have proven that hypogonadotropic hypogonadism is not simply a monogenic Mendelian disease, but that more than one gene may be involved in its pathogenesis in a single patient. The oligogenic complex architecture underlying the disease is still largely unknown.

Material and methods

Targeted next-generation sequencing (NGS) was used to screen for DNA variants in a cohort of 47 patients with congenital hypogonadotropic hypogonadism. The NGS panel consists of over

SUBMITTER: Gach A 

PROVIDER: S-EPMC8924836 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature