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Rare mutation in MKRN3 in two twin sisters with central precocious puberty: Two case reports
BACKGROUND: Caused by premature activation of the hypothalamic-pituitary-gonadal axis, there is increasing incidence of central precocious puberty (CPP), especially in girls. Makorin ring finger protein 3 (MKRN3), a maternal imprinted gene with a highly conserved sequence, is the most common genetic...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Baishideng Publishing Group Inc
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8610925/ https://www.ncbi.nlm.nih.gov/pubmed/34877345 http://dx.doi.org/10.12998/wjcc.v9.i32.10018 |
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author | Jiang, Li-Qiong Zhou, Yan-Qiong Yuan, Ke Zhu, Jian-Fang Fang, Yan-Lan Wang, Chun-Lin |
author_facet | Jiang, Li-Qiong Zhou, Yan-Qiong Yuan, Ke Zhu, Jian-Fang Fang, Yan-Lan Wang, Chun-Lin |
author_sort | Jiang, Li-Qiong |
collection | PubMed |
description | BACKGROUND: Caused by premature activation of the hypothalamic-pituitary-gonadal axis, there is increasing incidence of central precocious puberty (CPP), especially in girls. Makorin ring finger protein 3 (MKRN3), a maternal imprinted gene with a highly conserved sequence, is the most common genetic etiology associated with CPP. Approximately 50 different mutations in MKRN3 have been found in CPP. CASE SUMMARY: This case report involves identical twin sisters presenting with premature thelarche at the age of 6 years. The left hand bone age of both patients revealed advanced age (9 years). Pelvic B ultrasound indicated enlargement of the ovaries. Luteinizing hormone (LH) releasing hormone testing confirmed CPP. Whole-exome sequencing detected the c.841C>T mutation in MKRN3, leading to a single base substitution, in the twins. This mutation was inherited from the father and paternal grandmother. After 3 mo of treatment with a gonadotropin-releasing hormone analog, levels of LH, follicle-stimulating hormone, and estradiol in the proband’s sister returned to normal levels. CONCLUSION: Here, we report a rare mutation (c.841C>T) in MKRN3 in identical twin sisters with CPP. |
format | Online Article Text |
id | pubmed-8610925 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Baishideng Publishing Group Inc |
record_format | MEDLINE/PubMed |
spelling | pubmed-86109252021-12-06 Rare mutation in MKRN3 in two twin sisters with central precocious puberty: Two case reports Jiang, Li-Qiong Zhou, Yan-Qiong Yuan, Ke Zhu, Jian-Fang Fang, Yan-Lan Wang, Chun-Lin World J Clin Cases Case Report BACKGROUND: Caused by premature activation of the hypothalamic-pituitary-gonadal axis, there is increasing incidence of central precocious puberty (CPP), especially in girls. Makorin ring finger protein 3 (MKRN3), a maternal imprinted gene with a highly conserved sequence, is the most common genetic etiology associated with CPP. Approximately 50 different mutations in MKRN3 have been found in CPP. CASE SUMMARY: This case report involves identical twin sisters presenting with premature thelarche at the age of 6 years. The left hand bone age of both patients revealed advanced age (9 years). Pelvic B ultrasound indicated enlargement of the ovaries. Luteinizing hormone (LH) releasing hormone testing confirmed CPP. Whole-exome sequencing detected the c.841C>T mutation in MKRN3, leading to a single base substitution, in the twins. This mutation was inherited from the father and paternal grandmother. After 3 mo of treatment with a gonadotropin-releasing hormone analog, levels of LH, follicle-stimulating hormone, and estradiol in the proband’s sister returned to normal levels. CONCLUSION: Here, we report a rare mutation (c.841C>T) in MKRN3 in identical twin sisters with CPP. Baishideng Publishing Group Inc 2021-11-16 2021-11-16 /pmc/articles/PMC8610925/ /pubmed/34877345 http://dx.doi.org/10.12998/wjcc.v9.i32.10018 Text en ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved. https://creativecommons.org/licenses/by-nc/4.0/This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/ |
spellingShingle | Case Report Jiang, Li-Qiong Zhou, Yan-Qiong Yuan, Ke Zhu, Jian-Fang Fang, Yan-Lan Wang, Chun-Lin Rare mutation in MKRN3 in two twin sisters with central precocious puberty: Two case reports |
title | Rare mutation in MKRN3 in two twin sisters with central precocious puberty: Two case reports |
title_full | Rare mutation in MKRN3 in two twin sisters with central precocious puberty: Two case reports |
title_fullStr | Rare mutation in MKRN3 in two twin sisters with central precocious puberty: Two case reports |
title_full_unstemmed | Rare mutation in MKRN3 in two twin sisters with central precocious puberty: Two case reports |
title_short | Rare mutation in MKRN3 in two twin sisters with central precocious puberty: Two case reports |
title_sort | rare mutation in mkrn3 in two twin sisters with central precocious puberty: two case reports |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8610925/ https://www.ncbi.nlm.nih.gov/pubmed/34877345 http://dx.doi.org/10.12998/wjcc.v9.i32.10018 |
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