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首页> 中文期刊> 《世界临床病例杂志》 >Rare mutation in MKRN3 in two twin sisters with central precocious puberty: Two case reports

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

         
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摘要

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.Wholeexome 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.

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  • 来源
    《世界临床病例杂志》 |2021年第32期|P.10018-10023|共6页
  • 作者

    Li-Qiong Jiang; Yan-Qiong Zhou; Ke Yuan; Jian-Fang Zhu; Yan-Lan Fang; Chun-Lin Wang;

  • 作者单位

    Department of Pediatrics The First Affiliated Hospital Zhejiang University School of Medicine Hangzhou 310003 Zhejiang Province China;

    Department of Pediatrics The First Affiliated Hospital Zhejiang University School of Medicine Hangzhou 310003 Zhejiang Province China;

    Department of Pediatrics The First Affiliated Hospital Zhejiang University School of Medicine Hangzhou 310003 Zhejiang Province China;

    Department of Pediatrics The First Affiliated Hospital Zhejiang University School of Medicine Hangzhou 310003 Zhejiang Province China;

    Department of Pediatrics The First Affiliated Hospital Zhejiang University School of Medicine Hangzhou 310003 Zhejiang Province China;

    Department of Pediatrics The First Affiliated Hospital Zhejiang University School of Medicine Hangzhou 310003 Zhejiang Province China;

  • 原文格式 PDF
  • 正文语种 chi
  • 中图分类 肿瘤学;
  • 关键词

    Central precocious puberty; MKRN3; Mutation; Case report;

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