Literature DB >> 33189862

New gene targets in the study of hypogonadotropic hypogonadism.

Deborah J Good1.   

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.
Copyright © 2020. Published by Elsevier B.V.

Entities:  

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

Year:  2020        PMID: 33189862     DOI: 10.1016/j.mce.2020.111077

Source DB:  PubMed          Journal:  Mol Cell Endocrinol        ISSN: 0303-7207            Impact factor:   4.102


  1 in total

1.  A Novel FGFR1 Missense Mutation in a Portuguese Family with Congenital Hypogonadotropic Hypogonadism.

Authors:  Lúcia Fadiga; Mariana Lavrador; Nuno Vicente; Luísa Barros; Catarina I Gonçalves; Asma Al-Naama; Luis R Saraiva; Manuel C Lemos
Journal:  Int J Mol Sci       Date:  2022-04-17       Impact factor: 6.208

  1 in total

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