Nineteen Years of National Screening for Congenital Hypothyroidism: Familial Cases with Thyroid Dysgenesis Suggest the Involvement of Genetic Factors
نویسندگان
چکیده
منابع مشابه
The Importance of Screening in Congenital Hypothyroidism
Introduction: Congenital hypothyroidism is the most common cause of preventable mental retardation in children. However, early diagnosis and treatment improve the prognosis of mental retardation. Clinical diagnosis of Congenital hypothyroidism is not also evident in the neonatal period. Therefore, screening all newborns for early diagnosis and treatment is essential. This paper aimed to analyze...
متن کاملFamilial congenital hypothyroidism due to thyroid dysgenesis: A case report of largest family
Introduction: Congenial hypothyroidism due to thyroid dysgenesis is usually regarded as sporadic. However, a small but significant proportion of familial cases have been identified (2%). Herein, we describe a case report of unusually large family of 10 siblings, out of which five were affected with congenital hypothyroidism, which is supposed to be the world’s largest series of familial congeni...
متن کاملCongenital and Juvenile Hypothyroidism Due to Thyroid Dysgenesis.
Following the initial description of an ectopic thyroid by Verneuil, ( 1 ) it remained only as an anatomical curiosity for many years. Hunt ( 2 ) described dysphagia and obstruction of the upper larynx caused by a lingual thyroid and suggested the clinical importance of this entity. Mont gomery ( 3 ) has reviewed most of the reported cases, and observed that surgi cal ablation of the ectopic ti...
متن کاملStructures, processes and achievements of the national program of congenital hypothyroidism screening in the Islamic Republic of Iran
Background and Aim: Screening of neonates for early detection and timely treatment of congenital hypothyroidism (CH) is one of the most important public health programs in the world. The purpose of this study was to review the structures, processes and achievements of the CH Screening program in Iran. Materials and Methods: Data were obtained from the surveillance program of the non-communicabl...
متن کاملEpidemiology of thyroid dysgenesis: the familial component.
The pathophysiology of thyroid dysgenesis remains unclear and, until recently, this disorder was generally regarded as sporadic. However, a small but significant proportion of familial cases have been identified (2%) through the study of subjects with congenital hypothyroidism, and more recent work has revealed an even higher proportion of familial thyroid dysgenesis in both symptomatic and asy...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2001
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jcem.86.5.7501