POU1F1基因变异导致联合垂体激素缺乏症Ⅰ型1例的临床和遗传学特点  

Clinical and genetic characteristics of a young child with combined pituitary hormone deficiency type Ⅰ caused by POU1F1 gene variation

作　　者：陈洁 张星星[1] 吴小川[1] 里建 CHEN Jie;ZHANG Xing-Xing;WU Xiao-Chuan;LI Jian(Department of Pediatrics,Second Xiangya Hospital,Central South University,Changsha 410011,China)

机构地区：[1]中南大学湘雅二医院儿科

出　　处：《中国当代儿科杂志》2019年第7期685-689,共5页Chinese Journal of Contemporary Pediatrics

摘　　要：该文报道一例Ⅰ级POU结构域转录因子1(POU1F1)基因变异导致的联合垂体激素缺乏症Ⅰ型(CPHD1)的临床及遗传学特征.患儿女,2岁3个月,主要表现为身材矮小、前额突出、眼球内陷、下颌短小、皮肤松弛、中枢性甲状腺功能减退、完全性生长激素缺乏、垂体前叶发育不良.经基因分析发现POU1F1基因存在新杂合变异c.889C>T(p.R297W),父母该位点为野生型,根据美国医学遗传学与基因组学学会指南分析该变异为可能致病性变异,既往未见文献报道,符合常染色体显性遗传.该患儿确诊为CPHD1.经生长激素及左甲状腺素钠片联合治疗1年后,身高增长19.8 cm,呈追赶性生长趋势.该研究丰富了POU1F1基因的突变谱,对联合垂体激素缺乏的诊断与分型有重要意义.This paper reports the clinical and genetic characteristics of a case of combined pituitary hormone deficiency type Ⅰ(CPHD1) caused by POU domain,class 1,transcription factor 1(POU1F1) gene variation. A 2 years and 3 months old girl mainly presented with short stature,special facial features of prominent forehead,enophthalmos,and short mandible,loose skin,central hypothyroidism,complete growth hormone deficiency,and anterior pituitary hypoplasia. Gene analysis identified a novel heterozygous mutation,c.889C T(p.R297 W),in POU1F1 gene,and this locus of her parents was wild-type. This mutation was analyzed as a possible pathogenic variant according to the guidelines of the American College of Medical Genetics and Genomics,which has not been previously reported in the literature and conforms to the autosomal dominant inheritance. This child was diagnosed with CPHD1. Her height increased by 19.8 cm and showed a catch-up growth trend after one year of combined treatment with growth hormone and euthyrox. This study enriches the mutation spectrum of POU1F1 gene and has important significance for the diagnosis and classification of combined pituitary hormone deficiency.

关 键 词：联合垂体激素缺乏症 Ⅰ级POU结构域转录因子1基因 生长激素 促甲状腺激素 幼儿 

分 类 号：R725.8[医药卫生—儿科]