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Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation
-
Veysel Nijat Baş
,
Hakan Cangul
Published/Copyright:
September 25, 2012
Abstract
Congenital hypothyroidism (CH) is the most commonly encountered endocrinological birth defect, with an incidence of approximately 1 in 3000–4000 live births. It could be sporadic or familial as well as goitrous or non-goitrous. Inactivating mutations of TSHR , which is one of the genes responsible for non-goitrogenic congenital hypothyroidism, are mostly inherited autosomal recessively and result in a wide clinical spectrum owing to the extent of receptor function loss. Here, we report detailed clinical features of two CH cases with TSHR mutations. The first case was diagnosed before the initiation of the national screening program and had a severe clinical phenotype associated with a homozygous inactivating TSHR mutation (P556R), whereas the second case was diagnosed after the introduction of the national screening program and showed a mild clinical presentation and carried another homozygous missense mutation (P162A) in the TSHR gene. We compared the clinical features of our cases with those of previously reported patients with TSHR mutations to enhance the genotype/phenotype correlations between these mutations and corresponding clinical phenotypes.
Received: 2012-7-2
Accepted: 2012-8-17
Published Online: 2012-09-25
Published in Print: 2012-12-01
©2012 by Walter de Gruyter Berlin Boston
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Keywords for this article
congenital hypothyroidism;
missense mutations;
molecular analysis;
thyrotropin receptor
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- Review article
- The pros and cons of sex steroid priming in growth hormone stimulation testing
- Images in pediatric endocrinology
- Tuber sinerium hamartoma causing precocious puberty in a child
- Original articles
- Clinical features suggestive of non-classical 21-hydroxylase deficiency in children presenting with precocious pubarche
- Disorders of sex development among Sudanese children: 5-year experience of a pediatric endocrinology clinic
- Anti-Müllerian hormone levels in serum 1 year after unilateral orchiopexy
- Clinical and genetic analysis of three Chinese patients with steroid 5α-reductase type 2 deficiency
- Apparent mineralocorticoid excess syndrome: report of one family with three affected children
- A decrease in fasting FGF19 levels is associated with the development of non-alcoholic fatty liver disease in obese adolescents
- Acanthosis nigricans predicts the clustering of metabolic syndrome components in Hispanic elementary school-aged children
- Nutritional and metabolic findings in patients with Prader-Willi syndrome diagnosed in early infancy
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