Thyroid dysfunction and developmental anomalies in first degree relatives of children with thyroid dysgenesis

作     者：Lakshminarasimhan Sindhuja Devi Dayal Kushaljit Singh Sodhi Naresh Sachdeva Anish Bhattacharya 

作者机构：Pediatric Endocrinology UnitDepartment of PediatricsPostgraduate Institute of Medical Education and ResearchChandigarh Department of RadiodiagnosisPostgraduate Institute of Medical Education and ResearchChandigarh Department of EndocrinologyPostgraduate Institute of Medical Education and ResearchChandigarh Department of Nuclear MedicinePostgraduate Institute of Medical Education and ResearchChandigarh 

出 版 物：《World Journal of Pediatrics》 (世界儿科杂志（英文版）)

年 卷 期：2016年第12卷第2期

页      面：215-218页

核心收录：

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

主　　题：congenital hypothyroidism familial occurrence first degree relatives thyroid developmental anomalies thyroid dysgenesis 

摘      要：Background: Familial clustering in patients withpermanent congenital hypothyroidism (CH) caused bythyroid dysgenesis (TD) has been reported in developedcountries. There is no information on familial TD fromdeveloping ***: A total of 312 first degree relativesbelonging to 80 families of children with TD (group 1)and 40 families of age-matched normal children (group2) were screened by thyroid ultrasonography, serum totalthyroxine (T4) and thyroid stimulating hormone (TSH).Results: Thyroid scintigraphy revealed agenesis in78.7% of the patients, ectopic gland in 15%, and hypoplasiain 6.2%. The mean thyroid volumes were similar in parentsand siblings of both groups. Eight (10.6%) mothers in group1 were identified to have thyroid hypoplasia as comparedwith none in group 2 (P=0.03). Serum TSH was signifi cantlyhigher in group 1 than in group 2 (P=0.004). Sixteen (7.8%)subjects (6 mothers, 5 fathers, and 5 siblings) in group 1were found to have subclinical hypothyroidism as comparedto none in group 2 (P0.05). Four families were identifiedto have thyroid developmental anomalies and abnormalthyroid functions accounting for 5% of cases of familial TDin our ***: Thyroid developmental anomalies andthyroid function abnormalities are more frequent in firstdegree relatives of children with TD as compared with acontrol population. These findings suggest that possiblythere is a genetic component of TD in Indian patients.