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Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys
BACKGROUND: Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis. In particular, reduced production, secretion or action of gonadotrophin-releasing hormone (GnRH) is often responsible. Various genes, ma...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5314676/ https://www.ncbi.nlm.nih.gov/pubmed/28209183 http://dx.doi.org/10.1186/s40246-017-0098-2 |
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author | Ayers, Katie L. Bouty, Aurore Robevska, Gorjana van den Bergen, Jocelyn A. Juniarto, Achmad Zulfa Listyasari, Nurin Aisyiyah Sinclair, Andrew H. Faradz, Sultana M. H. |
author_facet | Ayers, Katie L. Bouty, Aurore Robevska, Gorjana van den Bergen, Jocelyn A. Juniarto, Achmad Zulfa Listyasari, Nurin Aisyiyah Sinclair, Andrew H. Faradz, Sultana M. H. |
author_sort | Ayers, Katie L. |
collection | PubMed |
description | BACKGROUND: Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis. In particular, reduced production, secretion or action of gonadotrophin-releasing hormone (GnRH) is often responsible. Various genes, many of which play a role in the development and function of the GnRH neurons, have been implicated in these disorders. Clinically, CHH and KS are heterogeneous; however, in 46,XY patients, they can be characterised by under-virilisation phenotypes such as cryptorchidism and micropenis or delayed puberty. In rare cases, hypospadias may also be present. RESULTS: Here, we describe genetic mutational analysis of CHH genes in Indonesian 46,XY disorder of sex development patients with under-virilisation. We present 11 male patients with varying degrees of under-virilisation who have rare variants in known CHH genes. Interestingly, many of these patients had hypospadias. CONCLUSIONS: We postulate that variants in CHH genes, in particular PROKR2, PROK2, WDR11 and FGFR1 with CHD7, may contribute to under-virilisation phenotypes including hypospadias in Indonesia. |
format | Online Article Text |
id | pubmed-5314676 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-53146762017-02-24 Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys Ayers, Katie L. Bouty, Aurore Robevska, Gorjana van den Bergen, Jocelyn A. Juniarto, Achmad Zulfa Listyasari, Nurin Aisyiyah Sinclair, Andrew H. Faradz, Sultana M. H. Hum Genomics Primary Research BACKGROUND: Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis. In particular, reduced production, secretion or action of gonadotrophin-releasing hormone (GnRH) is often responsible. Various genes, many of which play a role in the development and function of the GnRH neurons, have been implicated in these disorders. Clinically, CHH and KS are heterogeneous; however, in 46,XY patients, they can be characterised by under-virilisation phenotypes such as cryptorchidism and micropenis or delayed puberty. In rare cases, hypospadias may also be present. RESULTS: Here, we describe genetic mutational analysis of CHH genes in Indonesian 46,XY disorder of sex development patients with under-virilisation. We present 11 male patients with varying degrees of under-virilisation who have rare variants in known CHH genes. Interestingly, many of these patients had hypospadias. CONCLUSIONS: We postulate that variants in CHH genes, in particular PROKR2, PROK2, WDR11 and FGFR1 with CHD7, may contribute to under-virilisation phenotypes including hypospadias in Indonesia. BioMed Central 2017-02-16 /pmc/articles/PMC5314676/ /pubmed/28209183 http://dx.doi.org/10.1186/s40246-017-0098-2 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided 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 Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Primary Research Ayers, Katie L. Bouty, Aurore Robevska, Gorjana van den Bergen, Jocelyn A. Juniarto, Achmad Zulfa Listyasari, Nurin Aisyiyah Sinclair, Andrew H. Faradz, Sultana M. H. Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys |
title | Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys |
title_full | Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys |
title_fullStr | Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys |
title_full_unstemmed | Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys |
title_short | Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys |
title_sort | variants in congenital hypogonadotrophic hypogonadism genes identified in an indonesian cohort of 46,xy under-virilised boys |
topic | Primary Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5314676/ https://www.ncbi.nlm.nih.gov/pubmed/28209183 http://dx.doi.org/10.1186/s40246-017-0098-2 |
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