...Preet K. Matharu; Louis J. Martin; Erica A. Eugster Introduction: The objective of our study was to determine the prevalence of a delayed thyroid-stimulating hormone (TSH) rise in infants with congenital hypothyroidism (CH) born in Indiana. Additionally, we sought to determine whether...

...Erdal Kurnaz; Ayberk Türkyılmaz; Oğuzhan Yaralı; Ayşe Sena Dönmez; Atilla Çayır Introduction: Pathogenic variants in the genes involved in the formation of thyroid tissue and thyroid hormone secretion have been reported to cause congenital hypothyroidism (CH) in some cases. This study aimed...

...Asodu Sandeep Sarma; Ankush Desai; Madhava Rao; Jaya Prakash Sahoo; Channabasappa Shivaprasad; Prajnya Ranganath; Pragna Lakshmi; Lorraine D’Sa; Ashwin Dalal Introduction: Thyroid dyshormonogenesis (TDH) is a subgroup of congenital hypothyroidism with recessive inheritance resulting from disease...

... generates hydrogen peroxide and is involved in the thyroid hormone synthesis. Cases of congenital hypothyroidism (CH) with dyshormonogenesis showing two or more genetic variants are increasingly reported. We describe the first case of transient dyshormonogenesis who had experimentally verified a loss...

...Hai-yang Zhang; Feng-yao Wu; Xue-song Li; Cao-xu Zhang; Ping-hui Tu; Rui-meng Yang; Xiao-yu Liu; Ren-jie Cui; Liu Yang; Chen-yang Wu; Rui-jia Zhang; Ya Fang; Feng Sun; Jun Liang; Feng Cheng; Huai-dong Song; Shuang-xia Zhao Introduction: Congenital hypothyroidism (CH), the most common neonatal...

...Rutger C.C. Hengeveld; Monique Albersen; Michael A.H. Hadders; Ilse Hellinga; Hennie Bikker; Annemieke C. Heijboer; A.S. Paul van Trotsenburg; Jacquelien J. Hillebrand; Anita Boelen; Nitash Zwaveling-Soonawala Introduction: Neonatal screening programs for congenital hypothyroidism (CH) have been...

...Niamh McGrath; Colin Patrick Hawkes; Stephanie Ryan; Philip Mayne; Nuala Murphy Scintigraphy using technetium-99m ( 99m Tc) is the gold standard for imaging the thyroid gland in infants with congenital hypothyroidism (CHT) and is the most reliable method of diagnosing an ectopic thyroid gland. One...

..., instructions or products referred to in the content or advertisements. NKX2-1 Brain-lung-thyroid syndrome Hypopituitarism Congenital hypothyroidism UKRI (UK Research and Innovation) Heterozygous point mutations or haploinsufficiency of the transcription factor NKX2-1...

...Tomoyo Itonaga; Shinji Higuchi; Kazuhiro Shimura; Keisuke Nagasaki; Mari Satoh; Noriyuki Takubo; Ikuko Takahashi; Hirotake Sawada; Yukihiro Hasegawa Background: Congenital hypothyroidism (CH) can be divided into 2 types, transient CH (T-CH) and permanent CH (P-CH), depending on the requirement...

...Leslie Pitts; Winston McCormick; Gail J. Mick Background/Aims: Newborn screening protocols for congenital hypothyroidism (CH) vary as to whether a TSH or T4 algorithm or some combination is performed. We aimed to determine the 3-year clinical outcome of infants diagnosed with CH and screen-positive...

...Jacoba J. Bongers-Schokking; Wilma C.M. Resing; Wilma Oostdijk; Yolanda B. de Rijke; Sabine M.P.F. de Muinck Keizer-Schrama Objective: Congenital hypothyroidism (CH) per se, when not treated or undertreated, may lead to severe behavioural problems (cretinism), whereas overtreatment of CH seems...

...Giovanni Prezioso; Cosimo Giannini; Francesco Chiarelli This review focuses on the current knowledge of the effects of thyroid hormones on central nervous system differentiation and development in animals and the human fetal brain. The outcomes of children with congenital hypothyroidism...

... factor 2 (DUOXA2), together with dual oxidase 2, serves pivotal roles in thyroid hormone biosynthesis. To date, all reported patients with DUOXA2 mutations were diagnosed postnatally through newborn screening for congenital hypothyroidism. Case Report: The mother of a male fetus presented at 33 + 4...

...Niamh McGrath; Colin P. Hawkes; Philip Mayne; Nuala P. Murphy Background: Congenital hypothyroidism (CHT) has a reported incidence of approximately 1 in 2,000–4,000 births. There is no consensus on the optimal cut-off whole-blood thyroid-stimulating hormone (TSH) concentration that should be used...

...Débora Braslavsky; Maria Virginia Méndez; Laura Prieto; Ana Keselman; Rosa Enacan; Laura Gruñeiro-Papendieck; Nicolas Jullien; Alexandru Savenau; Rachel Reynaud; Thierry Brue; Ignacio Bergadá; Ana Chiesa Background/Aim: Congenital hypothyroidism (CH) is a heterogeneous entity. Neonatal screening...

... analog and equilibrium dialysis methods; the TBG level was low by comparison with an age-appropriate reference range. However, he was later found to have CH-C, with multiple pituitary hormone deficiencies. Congenital hypothyroidism Newborn screening Congenital hypothyroidism (CH) is one...

... to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Down syndrome Thyroid diseases Congenital heart malformation Congenital hypothyroidism Screening National Institutes of Health (NIH) 10.13039/100000002...

... responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Congenital hypothyroidism Newborn screening Transient vs. permanent congenital hypothyroidism Second routine screening For cases in which we...

...V. van Tellingen; M.J.J. Finken; J. Israëls; Y.M.C. Hendriks; G.A. Kamp; H.M. van Santen Background: Congenital hypothyroidism of thyroidal origin (CHT) is a common disorder in pediatric endocrinology practices, which can be difficult to manage. Elevated thyrotropin (TSH) concentrations...

...Marie Uyttendaele; Sophie Lambert; Sylvie Tenoutasse; Emese Boros; France Ziereisen; Guy Van Vliet; Claudine Heinrichs; Cécile Brachet Aim: To assess the management and outcome of the congenital hypothyroidism (CH) patients followed at our institution since the introduction of systemic neonatal...