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Solène Castellnou, Patricia Bretones, Juliette Abeillon, Myriam Moret, Pauline Perrin, Karim Chikh, and Véronique Raverot

Established Facts Maternal TSH receptor-blocking antibodies (TBAbs) are a known cause of transient congenital hypothyroidism. Novel Insights Congenital hypothyroidism due to TBAbs can occur in case of a normal concentration

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Shirley Langham, Peter Hindmarsh, Steven Krywawych, and Catherine Peters

Introduction The newborn screening programme for CH was introduced in the UK in 1981 [ 1 , 2 ] and has virtually abolished cases of untreated congenital hypothyroidism (CH). CH is a common (1 in 3,000-4,000 live births) condition [ 3 , 4 ] in

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Tal Almagor, Shoshana Rath, Dan Nachtigal, Zohara Sharroni, Ghadir Elias-Assad, Ora Hess, Gilad Havazelet, Yoav Zehavi, Ronen Spiegel, Dani Bercovich, Shlomo Almashanu, and Yardena Tenenbaum-Rakover

result in hearing impairment (HI) [ 1 - 3 ]. Deaf-mutism and HI are common in areas of iodine deficiency [ 4 ] and were reported in patients with congenital hypothyroidism (CH) prior to the implementation of thyroid neonatal screening in the 1980s [ 5

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Jorge Alberto Tapia-Martínez, Margarita Franco-Colín, Vanessa Blas-Valdivia, and Edgar Cano-Europa

stage causes congenital hypothyroidism that alters thyroid and metabolic programming. This idea is supported by the fetal origin of the metabolic diseases hypothesis ( 2 , 3 ). Thus, metabolic diseases have their origin during the early life stages when

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Cengiz Kara, Jamala Mammadova, Ümmet Abur, Cagri Gumuskaptan, Elif İzci Güllü, Ayhan Dağdemir, and Murat Aydın

Introduction Primary congenital hypothyroidism (CH) is the most common endocrine disorder in newborns, with an incidence ranging from 1/1000 to 1/3000 worldwide ( 1 ). The incidence of CH has doubled over the last two decades largely due to

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Kevin Stroek, Annemieke C. Heijboer, Marja van Veen-Sijne, Annet M. Bosch, Catharina P.B. van der Ploeg, Nitash Zwaveling-Soonawala, Robert de Jonge, A.S. Paul van Trotsenburg, and Anita Boelen

Introduction Congenital hypothyroidism (CH) is thyroid hormone deficiency at birth mostly caused by impaired development of the thyroid gland or hormone biosynthesis (primary or thyroidal CH, CH-T). A less frequent, but equally important cause

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Tiziana de Filippis, Federica Marelli, Maria Cristina Vigone, Marianna Di Frenna, Giovanna Weber, and Luca Persani

disease), and congenital hypothyroidism (CH) of variable severity, associated either with athyreosis, hypoplasia or an apparently normal gland in situ [ 1 , 2 , 3 , 4 , 5 , 6 , 7 ], but not with ectopy as recently indicated also in the document of the CH

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Zohar Steinberg Ben-Zeev, Marina Peniakov, Clari Felszer, Scott A Weiner, Avishay Lahad, Shlomo Almashanu, and Yardena Tenenbaum Rakover

primary congenital hypothyroidism (CH) ( 17 , 18 ). The potential effects of maternal thyroid disease on offspring have led to the clinical practice of recommending serum thyroid function tests (TFT), including free T4 (FT4) and TSH, in infants born to

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Giorgio Radetti, Franco Rigon, Alessandro Salvatoni, Irene Campi, Tiziana De Filippis, Valentina Cirello, Silvia Longhi, Fabiana Guizzardi, Marco Bonomi, and Luca Persani

Introduction Patients with congenital hypothyroidism (CH) display a certain degree of resistance to levothyroxine (LT4) either at birth or during childhood ( 1 , 2 ). This clinical picture usually improves later in life ( 1 ), although adult

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Tetsuya Mizokami, Shuji Fukata, Akira Hishinuma, Takahiko Kogai, Katsuhiko Hamada, Tetsushi Maruta, Kiichiro Higashi, and Junichi Tajiri

What Is Known about This Topic? • Iodide transport defect (ITD) is a dyshormonogenetic congenital hypothyroidism caused by sodium/iodide symporter (NIS) gene mutations. In the lactating mammary gland, iodide is concentrated by NIS