CH incidence Québec, Canada Milan, Italy Albert, NZa Castanet, France Period 1990–2009 1993–2010 1980–1998 TSH threshold (mU/L) 15- 15 15–5 20 12–10 15 Variable over time Global 1: 2,900 1:…
Fig. 11.1 The figure displays the mean (full line), the -2 SDS and +2 SDS (dotted lines) L-T4 requirement in 216 CH patients diagnosed with neonatal screening from 6 months…
CH etiology Associated mutations TSH T3 and T4 A. Primary CH Thyroid dysgenesis PAX8 high low TTF2 NKX2.1 NKX2.5 Thyroid dyshormonogenesis NIS/SLC5A5 high low TPO DUOX2, DUOXA2 Tg DEHAL1/SECISBP2 SLC26A4 …
Congenital goiters Dyshormonogenesis Iodine trapping defect (NIS-gene mutation) Iodine organification defects (TPO, DUOX.DUOX2 gene muattions) Pendred syndrome Thyroglobulin biosynthesis defects Iodotyrosine deiodinase defects (DEHAL1-gene mutation) Activating mutations of the TSH-receptor…
20. The American Thyroid Association Taskforce on Thyroid Disease During Pregnancy and Ostpartum, Stagnaro-Green A, Abalovich M, Alexander E, et al (2011) Guidelines of the American Thyroid Association for the…
© Springer International Publishing Switzerland 2015Gianni Bona, Filippo De Luca and Alice Monzani (eds.)Thyroid Diseases in Childhood10.1007/978-3-319-19213-0_18 18. Hyperthyroidism Giorgio Radetti1 and Federico Baronio2 (1) Department of Paediatrics, General Hospital of Bolzano, Via Lorenz Boehler 5, Bolzano, 39018,…
Developmental stage Gestational weeks Thyroid gland organogenesis Pre-colloid 7–13 Colloid 13–14 Follicular >14 TRH in hypothalamus 10–12 TSH in anterior pituitary gland and circulation 10–12 TSH receptor in thyroid gland…
© Springer International Publishing Switzerland 2015Gianni Bona, Filippo De Luca and Alice Monzani (eds.)Thyroid Diseases in Childhood10.1007/978-3-319-19213-0_5 5. Laboratory Aspects in Neonatal Screening of Congenital Hypothyroidism Carlo Corbetta1 and Luisella Alberti1 (1) Dipartimento della Donna, della Mamma e…
Fig. 10.1 The main clinical characteristics of the patients with TH action defects, RTHα or RTHß. ADHD attention-deficit, hyperactivity disorder 10.2.1.1 Goiter Diffuse or multinodular goiter is a common finding…
Condition Additional phenotype Thyroid involvement Genetics Cowden OMIM #158350 [44] (PTEN – hamartoma tumor syndrome spectrum), benign and malignant tumors of uterus, breast, bowel Thyroid nodules of follicular type within…
