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
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
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
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
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
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
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
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
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
Paolo Cavarzere, Laura Palma, Lara Nicolussi Principe, Monica Vincenzi, Silvana Lauriola, Rossella Gaudino, Virginia Murri, Luigi Lubrano, Giuliana Rossi, Alessia Sallemi, Ermanna Fattori, Marta Camilot, and Franco Antoniazzi
clear whether they interfere with the function of the fetus’ thyroid ( 8 ). In children from mother with autoimmune hypothyroidism (AH), an increased prevalence of congenital hypothyroidism (CH) is described ( 1 , 9 ); however, no study has ever
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
