一例POU1F1基因变异导致的联合垂体激素缺乏患儿临床和遗传学分析  

Clinical and genetic analysis of an infant with combined pituitary hormone deficiency due to POU1F1 gene variants

作　　者：李群[1] 李娟[1] 常国营[1] 丁宇[1] 王依柔 沈永年[1] 王剑[2] 王秀敏[1] Li Qun;Li Juan;Chang Guoying;Ding Yu;Wang Yirou;Shen Yongnian;Wang Jian;Wang Xiumin(Department of Endocrinology and Metabolism,Shanghai Children’s Medical Center,Shanghai Jiaotong University School of Medicine,Shanghai 200127,China;Department of Medical Genetics and Molecular Diagnostic Laboratory,Shanghai Children’s Medical Center,Shanghai Jiaotong University School of Medicine,Shanghai 200127,China)

机构地区：[1]上海交通大学医学院附属上海儿童医学中心内分泌遗传代谢科,200127 [2]上海交通大学医学院附属上海儿童医学中心医学遗传科分子诊断实验室,200127

出　　处：《中华医学遗传学杂志》2020年第9期1018-1020,共3页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(81900722);金磊儿科内分泌中青年医师成长科研基金(PEGRF201809007)。

摘　　要：目的对1例联合垂体激素缺乏患儿POU1F1基因进行变异分析,明确其遗传学病因。方法分析1例以反复低血糖就诊的联合垂体激素缺乏患儿的临床资料及基因检测结果。结果患儿临床表现为2月龄起反复发作的低血糖、严重的纳差便秘、严重的生长发育迟缓,并且存在生长激素、促甲状腺激素和泌乳素3种垂体激素缺乏。高通量测序检测显示患儿POU1F1基因存在c.767-769del(p.Glu256del)杂合变异。结论POU1F1基因变异是患儿的致病原因。低血糖在POU1F1基因缺陷病例中很少见,对于合并多种垂体激素缺乏的患儿,应进行基因检测明确病因。Objective To explore the clinical characteristics and genetic basis for an infant featuring combined pituitary hormone deficiency.Methods Clinical data and results of DNA sequencing of the child were analyzed.Results The 10-month-old male infant presented with recurrent hypoglycemia,extremely poor appetite and constipation,and severe growth retardation from 2 months on,in addition with pituitary hormone deficiency involving growth hormone,thyroid stimulating hormone,and prolactin.Next generation sequencing revealed a novel heterozygous c.767-769del(p.Glu256del)variant of the POU1F1 gene in the patient.Conclusion The patient was diagnosed with combined pituitary hormone deficiency due to the POU1F1 gene variant,for which replacement therapy including thyroxine and growth hormone was provided.Hypoglycemia is unusual in patients carrying POU1F1 gene variants and requires close attention in clinical practice.For children with multiple pituitary hormone deficiency,genetic testing should be recommended to determine the cause.

关 键 词：联合垂体激素缺乏 POU1F1基因 基因变异 

分 类 号：R725.9[医药卫生—儿科]