Etiology of Congenital Hypothyroidism
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 …
Thyroid Enlargement from Newborn to Adolescent
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…
Transient Neonatal Hypothyroidism
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…
Hyperthyroidism
© 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,…
Thyroid Hormones in Fetal Development
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…
Laboratory Aspects in Neonatal Screening of Congenital Hypothyroidism
© 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…
Syndromes of Resistance to Thyroid Hormone Action
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…
Thyroid Nodules and Carcinoma
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…
Epidemiology of Congenital Hypothyroidism
Country and period of observation Incidence of CH TSH cutoff (mU/L) Re-sampling strategy for at risk categories of neonates Country and period of observation Incidence of CH TSH cutoff (mU/L)…
Iodine Deficiency from Pregnancy to Childhood
Fig. 13.1 The scheme shows the mechanisms which concur in the stimulation of maternal thyroid function during a normal pregnancy (Modified from Ref. [7]) 13.1.3 Iodine Requirements Although with some…
