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Rare mutation in MKRN3 in two twin sisters with central precocious puberty: Two case reports

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World Journal of Clinical Cases 2021年第32期9卷 10018-10023页

作者： Li-Qiong Jiang Yan-Qiong Zhou Ke Yuan Jian-Fang Zhu Yan-Lan Fang Chun-Lin Wang Department of Pediatrics The First Affiliated HospitalZhejiang University School of MedicineHangzhou 310003Zhejiang ProvinceChina

BACKGROUND Caused by premature activation of the hypothalamic-pituitary-gonadal axis,there is increasing incidence of central precocious puberty(CPP),especially in *** ring finger protein 3(MKRN3),a maternal imprinted gene with a highly conserved sequence,is the most common genetic etiology associated with *** 50 different mutations in MKRN3 have been found in *** SUMMARY This case report involves identical twin sisters presenting with premature thelarche at the age of 6 *** left hand bone age of both patients revealed advanced age(9 years).Pelvic B ultrasound indicated enlargement of the *** hormone(LH)releasing hormone testing confirmed *** sequencing detected the c.841C>T mutation in MKRN3,leading to a single base substitution,in the *** mutation was inherited from the father and paternal *** 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 *** Here,we report a rare mutation(c.841C>T)in MKRN3 in identical twin sisters with CPP.

关键词： central precocious puberty MKRN3 Mutation Case report

central precocious puberty as a prelude of gonad dysplasia

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Pediatric Investigation 2019年第1期3卷 50-54页

作者： Lele Li Chunxiu Gong Department of Endocrinology GeneticsMetabolism and Adolescent MedicineBeijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina

There is increasing evidence that patients with gonad dysplasia,as characterized by absent or incomplete puberty,can also exhibit central precocious puberty(CPP).Herein,we review the reported cases that manifest with both gonad dysplasia and ***,we examine the hypothesis that these patients exhibit a normal hypothalamic-pituitarygonadal axis,hypogonadism,and the presence of residual gonadal function,and that the onset of disease is related to early initiation of the hypothalamic-pituitary-gonadal ***,we suggest that CPP is a prelude of some partial hypogonadism.

关键词： Gonad dysplasia central precocious puberty Turner syndrome Klinefelter syndrome

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Efficacy and Safety of Domestic Leuprorelin in Girls with Idiopathic central precocious puberty： A Multicenter,Randomized, Parallel, Controlled Trial

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Chinese Medical Journal 2015年第10期128卷 1314-1320页

作者： Wen-Jing Li Chun-Xiu Gong Mei-Jie Guo Jie Xing Tang Li Wen-Hui Song Xiao-Ping Luo Di Wu Jian-Ping Liang Bing-Yan Cao Yi Gu Chang Su Xue-Jun Liang Min Liu Rui Wang Feng-Ting Li Department of Endocrine and Genetic Metabolic Beijing Children&#39 s Hospital Capital Medical UniversityBeijing 100045China Department of Adolescent Medicine Harbin Children&#39 s Hospital HarbinHeilongjiang 150010China Department of Developmental Pediatrics The Second Hospital of Jilin UniversityChangchunJilin 130041China Department of Pediatrics The Affiliated Hospital of Qingdao UniversityQingdaoShandong 266003China Department of Endocrinology Shanxi Children&#39 s Hospital TaiyuanShanxi 030013China Department of Pediatrics Tongji HospitalTongJi Medical CollegeHuazhong University of Science and TechnologyWuhanHubei 430030China

Background：In central precocious puberty （CPP）,the pulse secretion and release ofgonadotropin-releasing hormone （GnRH） are increased due to early activation of the hypothalamic-pituitary-gonadal axis,resulting in developmental abnormalities with gonadal development and appearance of secondary sexual *** CPP without organic disease is known as idiopathic CPP （ICPP）.The objective of the study was to evaluate the clinical efficacy and safety of domestic leuprorelin （GnRH analog） in girls with ***：A total of 236 girls with ICPP diagnosed from April 2012 to January 2014 were selected and were randomized into two *** hundred fifty-seven girls in the test group were treated with domestic leuprorelin acetate,79 girls in the control group were treated with imported leuprorelin *** all were treated and observed for 6 *** 6-month treatment,the percentage of children with peak luteinizing hormone （LH） ≤3.3 U/L,the percentage of children with peak LH/peak follicle stimulating hormone （FSH） ratio 〈0.6,the improvements of secondary sexual characteristics,gonadal development and sex hormone levels,the change of growth rate of bone age （BA） and growth velocity,and drug adverse effects between two groups were ***：After the treatment,the percentage of children with a suppressed LH response to GnRH,defined as a peak LH ≤3.3 U/L,at 6 months in test and control groups were 96.80% and 96.20%,respectively,and the percentage of children with peak LH/FSH ratio ≤0.6 at 6 months in test and control groups were 93.60% and 93.70%,*** sizes of breast,uterus and ovary of children and the levels of estradiol （E2） were significantly reduced,and the growth rate of BA was also *** the differences between pre-and post-treatment in each group were statistically significant （P 〈 0.05）,but the differences of the parameters between two groups were not significant （P 〉 0.05）.Conclusions：Domestic leuprorelin is effective and

关键词： central precocious puberty Gonadotropin-releasing Hormone Analog Idiopathic central precocious puberty Leuprorelin

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Lateral ventricle injection of orexin-A ameliorates central precocious puberty in rat via inhibiting the expression of MEG3

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Lateral ventricle injection of orexin-A ameliorates central ...

MKRN3 regulates the epigenetic switch of mammalian puberty via ubiquitination of MBD3

第十三届江浙沪儿科学术会议暨2016年浙江省医学会儿科学学术年会

作者：陶月红沙里夫曾碧荷蔡闫闫郭玉秀

Background:central precocious puberty(CPP) is characterized as increasing gonadotropin-releasing hormone(GnRH) ***-A has also been shown to affect GnRH ***,there are few reports about the effect of orexin A on the treatment of ***:After establishing the precocious puberty model,the rats were divided into four groups:normal control,precocious puberty rats,precocious puberty rats treated with normal saline and precocious puberty rats treated with *** vaginal opening time,second estrus cycle,ovarian index and uterus index of rats in each group were ***-PCR was performed to examine the expression of MEG3 and kisspeptin in ***22 cells were transfected with pcDNA-MEG3 to detect the expression of ***:In this study,we found that orexin-A not only delayed the day of vaginal opening and regular estrus cycle days but also decreased the ovarian index and uterus index in rats with *** addition,orexin-A reversed the up-regulation of MEG3 and kisspeptin in rats with *** HT22 cells,the mRNA and protein level of kisspeptin were enhanced by ***:Our Results:suggest that orexin-A ameliorates central precocious puberty in rat and MEG3 might be involved in this effect,suggesting that MEG3 might be a novel target in treating central precocious puberty.

关键词： Orexin-A central precocious puberty MEG3 kisspeptin hypothalamic-pituitary-gonadal(HPG) axis

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National Science Review 2020年第3期7卷 671-685页

作者： Chuanyin Li Wenli Lu Liguang Yang Zhengwei Li Xiaoyi Zhou Rong Guo Junqi Wang Zhebao Wu Zhiya Dong Guang Ning Yujiang Shi Yinmin Gu Peng Chen Zijian Hao Tianting Han Meiqiang Yang Wei Wang Xuehui Huang Yixue Li Shan Gao Ronggui Hu Department of Pediatrics Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine State Key Laboratory of Molecular Biology CAS Center for Excellence in Molecular Cell Institute of Biochemistry and Cell Biology Chinese Academy of Sciences University of Chinese Academy of Sciences CAS Key Laboratory of Computational Biology CAS-MPG Partner Institute for Computational BiologyShanghai Institute of Nutrition and HealthShanghai Institutes for Biological SciencesUniversity of Chinese Academy of SciencesChinese Academy of Sciences College of Life Sciences Shanghai Normal University Center for Pituitary Tumor Ruijin Hospital Affiliated to Shanghai Jiao Tong University Shanghai Institute of Endocrine and Metabolic Diseases Shanghai Key Laboratory for Endocrine Tumors and E-Institute for EndocrinologyRuijin Hospital Shanghai Jiao Tong University School of Medicine Division of Endocrinology Diabetes and Hypertension Department of Medicine Brigham and Women's Hospital Harvard Medical School CAS Key Laboratory of Bio-medical Diagnostics Suzhou Institute of Biomedical Engineering and Technology Chinese Academy of Sciences Cancer Center Shanghai Tenth People's HospitalSchool of Medicine Tongji University

central precocious puberty(CPP) refers to a human syndrome of early puberty initiation with characteristic increase in hypothalamic production and release of gonadotropin-releasing hormone(Gn RH). Previously, loss-of-function mutations in human MKRN3, encoding a putative E3 ubiquitin ligase, were found to contribute to about 30% of cases of familial CPP. MKRN3 was thereby suggested to serve as a ‘brake’ of mammalian puberty onset, but the underlying mechanisms remain as yet ***, we report that genetic ablation of Mkrn3 did accelerate mouse puberty onset with increased production of hypothalamic Gn RH1. MKRN3 interacts with and ubiquitinates MBD3, which epigenetically silences GNRH1 through disrupting the MBD3 binding to the GNRH1 promoter and recruitment of DNA demethylase TET2. Our findings have thus delineated a molecular mechanism through which the MKRN3–MBD3 axis controls the epigenetic switch in the onset of mammalian puberty.

关键词： ubiquitin MKRN3 DNA methylation MBD3 DNA demethylase central precocious puberty

The diagnosis and management of hypothalamic hamartomas in children

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Chinese Neurosurgical Journal 2016年第4期2卷 211-218页

作者： Baocheng Wang Jie Ma Department of pediatric neurosurgery Xinhua hospital Shanghai JiaoTong University Shanghai China

Hypothalamic hamartoma (HH) is a rare developmental malformation often characterized by gelastic *** advances in treating HH have led to dramatic ***,clinical protocol of HH is poorly *** 2002,department Pediatric Neurosurgery of Xinhua Hospital has maintained a multidisciplinary clinical program to evaluate and treat children with *** program has provided the opportunity to investigate the management of *** this review,we summarize the clinical progress and propose a clear management principle for different HH patients.

关键词： Hypothalamic hamartoma Gelastic seizures central precocious puberty Electroencephalogram Treatment

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