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…
© 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,…
© 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…
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…
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…
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)…
© Springer International Publishing Switzerland 2015Gianni Bona, Filippo De Luca and Alice Monzani (eds.)Thyroid Diseases in Childhood10.1007/978-3-319-19213-0_12 12. Neurodevelopmental Outcomes in Children with Congenital Hypothyroidism Mariacarolina Salerno1 , Lucia De Martino1 and Manuela Cerbone1 (1) Pediatric Section- Department of Translational Medical…
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…
