Jiang LQ, Zhou YQ, Yuan K, Zhu JF, Fang YL, Wang CL. Rare mutation in MKRN3 in two twin sisters with central precocious puberty: Two case reports. World J Clin Cases 2021; 9(32): 10018-10023 [PMID: 34877345 DOI: 10.12998/wjcc.v9.i32.10018]
Corresponding Author of This Article
Chun-Lin Wang, MD, PhD, Chief Doctor, Department of Pediatrics, The First Affiliated Hospital, Zhejiang University School of Medicine, No. 79 Qingchun Road, Hangzhou 310003, Zhejiang Province, China. hzwangcl@zju.edu.cn
Research Domain of This Article
Pediatrics
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/
World J Clin Cases. Nov 16, 2021; 9(32): 10018-10023 Published online Nov 16, 2021. doi: 10.12998/wjcc.v9.i32.10018
Rare mutation in MKRN3 in two twin sisters with central precocious puberty: Two case reports
Li-Qiong Jiang, Yan-Qiong Zhou, Ke Yuan, Jian-Fang Zhu, Yan-Lan Fang, Chun-Lin Wang
Li-Qiong Jiang, Yan-Qiong Zhou, Ke Yuan, Jian-Fang Zhu, Yan-Lan Fang, Chun-Lin Wang, Department of Pediatrics, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, Zhejiang Province, China
Author contributions: Jiang LQ and Wang CL conceived and designed the study; Jiang LQ, Zhou YQ, Yuan K performed the experiments; Jiang LQ and Zhou YQ provided clinical research; Jiang LQ wrote the paper; Jiang LQ, Yuan K, Zhu JF, Fang YL and Wang CL reviewed and edited the manuscript; and all authors read and approved the manuscript.
Supported bythe key Research and Development Program of Zhejiang Province (No. 2020C03121).
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest related to this manuscript.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: 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/
Corresponding author: Chun-Lin Wang, MD, PhD, Chief Doctor, Department of Pediatrics, The First Affiliated Hospital, Zhejiang University School of Medicine, No. 79 Qingchun Road, Hangzhou 310003, Zhejiang Province, China. hzwangcl@zju.edu.cn
Received: July 1, 2021 Peer-review started: July 1, 2021 First decision: July 16, 2021 Revised: July 21, 2021 Accepted: September 10, 2021 Article in press: September 10, 2021 Published online: November 16, 2021 Processing time: 131 Days and 13.4 Hours
Abstract
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.
Core Tip: This report discusses the diagnosis and treatment of central precocious puberty caused by a new Makorin ring finger protein 3 gene mutation and includes a detailed clinical and laboratory analysis of the pathogenic principle, which provided the diagnosis and led to the treatment of central precocious puberty.
