New gene targets in the study of hypogonadotropic hypogonadism

Mol Cell Endocrinol. 2021 Jan 15:520:111077. doi: 10.1016/j.mce.2020.111077. Epub 2020 Nov 13.

Abstract

The incidence of congenital hypogonadotropic hypogonadism (HH) is approximately 1-10 in 100,000 live births. Known syndromes, such as Kallman syndrome, caused by a mutation in the KAL-1 gene, and other genes listed in the Online Mendelian Inheritance in Man database, account for 2/3 of the cases. The rest of these cases where there is no known genetic cause for HH are termed idiopathic. In this editorial, I describe each of the articles in the Special Issue on Hypogonadotropic Hypogonadism, with a focus on new genes that might be included in future screens of idiopathic patients.

Keywords: Congenital; Epigenetics; G-protein coupled receptors; Glia; GnRH neurons; Idiopathic; Single nucleotide variants.

Publication types

  • Editorial
  • Introductory Journal Article

MeSH terms

  • Animals
  • Epigenesis, Genetic
  • GTP-Binding Proteins / metabolism
  • Humans
  • Hypogonadism / genetics*
  • Hypogonadism / pathology
  • Mice
  • Mutation / genetics
  • Neurons / metabolism
  • Phenotype
  • Receptors, G-Protein-Coupled / metabolism
  • Signal Transduction

Substances

  • Receptors, G-Protein-Coupled
  • GTP-Binding Proteins