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 

机构地区：[1]Pediatric Endocrinology Unit,Department of Pediatrics,Postgraduate Institute of Medical Education and Research,Chandigarh [2]Department of Radiodiagnosis,Postgraduate Institute of Medical Education and Research,Chandigarh [3]Department of Endocrinology,Postgraduate Institute of Medical Education and Research,Chandigarh [4]Department of Nuclear Medicine,Postgraduate Institute of Medical Education and Research,Chandigarh

出　　处：《World Journal of Pediatrics》2016年第2期215-218,共4页世界儿科杂志（英文版）

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 countries.Methods: 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 (P<0.05). Four families were identifiedto have thyroid developmental anomalies and abnormalthyroid functions accounting for 5% of cases of familial TDin our cohort.Conclusions: 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.

关 键 词：congenital hypothyroidism familial occurrence first degree relatives thyroid developmental anomalies thyroid dysgenesis 

分 类 号：R58[医药卫生—内分泌]