Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective

Congenital hypogonadotropic hypogonadism (CHH) is a rare endocrine disorder that results in reproductive hormone deficiency and reduced potential for fertility in adult life. Discoveries of the genetic aetiology of CHH have advanced dramatically in the past 30 years, with currently over 40 genes rec...

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Detalles Bibliográficos
Autores principales: Al Sayed, Yasmin, Howard, Sasha R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10133250/
https://www.ncbi.nlm.nih.gov/pubmed/36517585
http://dx.doi.org/10.1038/s41431-022-01261-0
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author Al Sayed, Yasmin
Howard, Sasha R.
author_facet Al Sayed, Yasmin
Howard, Sasha R.
author_sort Al Sayed, Yasmin
collection PubMed
description Congenital hypogonadotropic hypogonadism (CHH) is a rare endocrine disorder that results in reproductive hormone deficiency and reduced potential for fertility in adult life. Discoveries of the genetic aetiology of CHH have advanced dramatically in the past 30 years, with currently over 40 genes recognised to cause or contribute to the development of this condition. The genetic complexity of CHH is further increased by the observation of di- and oligogenic, as well as classic monogenic, inheritance and incomplete penetrance. Very recently in the UK, a panel of 14 genes has been curated for the genetic diagnosis of CHH within the NHS Genomic Medicine Service programme. The aim of this review is to appraise the advantages and potential pitfalls of the use of a CHH panel in clinical endocrine diagnostics, and to consider the future avenues for developing this panel including the potential of whole exome or whole genome sequencing data analysis in this condition.
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spelling pubmed-101332502023-04-28 Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective Al Sayed, Yasmin Howard, Sasha R. Eur J Hum Genet Review Article Congenital hypogonadotropic hypogonadism (CHH) is a rare endocrine disorder that results in reproductive hormone deficiency and reduced potential for fertility in adult life. Discoveries of the genetic aetiology of CHH have advanced dramatically in the past 30 years, with currently over 40 genes recognised to cause or contribute to the development of this condition. The genetic complexity of CHH is further increased by the observation of di- and oligogenic, as well as classic monogenic, inheritance and incomplete penetrance. Very recently in the UK, a panel of 14 genes has been curated for the genetic diagnosis of CHH within the NHS Genomic Medicine Service programme. The aim of this review is to appraise the advantages and potential pitfalls of the use of a CHH panel in clinical endocrine diagnostics, and to consider the future avenues for developing this panel including the potential of whole exome or whole genome sequencing data analysis in this condition. Springer International Publishing 2022-12-15 2023-04 /pmc/articles/PMC10133250/ /pubmed/36517585 http://dx.doi.org/10.1038/s41431-022-01261-0 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Review Article
Al Sayed, Yasmin
Howard, Sasha R.
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective
title Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective
title_full Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective
title_fullStr Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective
title_full_unstemmed Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective
title_short Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective
title_sort panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10133250/
https://www.ncbi.nlm.nih.gov/pubmed/36517585
http://dx.doi.org/10.1038/s41431-022-01261-0
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