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

作　　者：Li-Qiong Jiang Yan-Qiong Zhou Ke Yuan Jian-Fang Zhu Yan-Lan Fang Chun-Lin Wang 

机构地区：[1]Department of Pediatrics,The First Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou 310003,Zhejiang Province,China

出　　处：《World Journal of Clinical Cases》2021年第32期10018-10023,共6页世界临床病例杂志

基　　金：by the key Research and Development Program of Zhejiang Province(No.2020C03121).

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.

关 键 词：Central precocious puberty MKRN3 MUTATION Case report 

分 类 号：R725.8[医药卫生—儿科]