检索结果-南通市图书馆

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

World Journal of Pediatrics 2016年第2期12卷 215-218页

作者： Lakshminarasimhan Sindhuja Devi Dayal Kushaljit Singh Sodhi Naresh Sachdeva Anish Bhattacharya Pediatric Endocrinology Unit Department of PediatricsPostgraduate Institute of Medical Education and ResearchChandigarh Department of Radiodiagnosis Postgraduate Institute of Medical Education and ResearchChandigarh Department of Endocrinology Postgraduate Institute of Medical Education and ResearchChandigarh Department of Nuclear Medicine Postgraduate Institute of Medical Education and ResearchChandigarh

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 (Pthyroid 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.

关键词： congenital hypothyroidism familial occurrence first degree relatives thyroid developmental anomalies thyroid dysgenesis

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Genetics of congenital hypothyroidism: Modern concepts

引用

Pediatric Investigation 2022年第2期6卷 123-134页

作者： Athanasia Stoupa Dulanjalce Kariyawasam Michel Polak Aurore Carre Department of Paediatric Endocrinology Gynaecology and DiabetologyIle de France Regional Neonatal Screening Centre(CRDN)Necker Enfants-Malades University HospitalParisFrance Institut IMAGINE INSERM U1163ParisFrance Institut Cochin INSERM U1016ParisFrance Centre des maladies endocriniennes rares de la croissance et du dévelopement ParisFrance Universitéde Paris Cité ParisFrance

Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and one of the most common preventable causes of intellectual disability in the world. CH may be due to developmental or functional thyroid defects (primary or peripheral CH) or be hypothalamic-pituitary in origin (central CH). In most cases, primary CH is caused by a developmental malformation of the gland (thyroid dysgenesis, TD) or by a defect in thyroid hormones synthesis (dyshormonogenesis, DH). TD represents about 65% of CH and a genetic cause is currently identified in fewer than 5% of patients. The remaining 35% are cases of DH and are explained with certainty at the molecular level in more than 50% of cases. The etiology of CH is mostly unknown and may include contributions from individual and environmental factors. In recent years, the detailed phenotypic description of patients, high-throughput sequencing technologies, and the use of animal models have made it possible to discover new genes involved in the development or function of the thyroid gland. This paper reviews all the genetic causes of CH. The modes by which CH is transmitted will also be discussed, including a new oligogenic model. CH is no longer simply a dominant disease for cases of CH due to TD and recessive for cases of CH due to DH, but a far more complex disorder.

关键词： Congenital hypothyroidism Development Genetic High-throughput sequencing thyroid dysgenesis Dyshormonogenesis Oligogenism

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：