Congenital Hypothyroidism due to PAX8 Mutations
Fig. 7.1 Locations of missense PAX8 mutations (secondary structure). Amino acid sequences of human PAX genes (PAX1 to PAX9) are shown. The sequences correspond to the paired domain, which consists…
Central Hypothyroidism
Main causes Inheritable defects CPHDs Pituitary transcription factor defects LEPR or PROKR2 mutations Isolated CH TSHβ, TRHR or IGSF1 mutations Invasive or compressive lesions Craniopharyngiomas Pituitary macroadenomas Meningiomas or gliomas…
Generation of Functional Thyroid from Embryonic Stem Cells
Fig. 19.1 Generation of functional thyroid follicles from pluripotent stem cells. (a) Schematic diagram of the thyroid follicle differentiation protocol from ESCs. (b) Expression of endogenous Nkx2-1 and Pax8, Foxe1,…
Subclinical Hypothyroidism
Thyroid-related causes Systemic causes Hashimoto’s thyroiditis Diabetes mellitus Iodine deficiency Celiac disease Overtreatment of Graves’ disease Chronic renal failure Transient neonatal hyperthyrotropinemia Syndromes (Turner, Down …) Variations in genes of…
Thyroid Embryogenesis
Fig. 1.1 Early stage of mammalian development. Panel a: Schematic cross-section of a mammalian embryo after gastrulation. The position of three germ layers, ectoderm (brown), mesoderm (orange), and endoderm (green)…
Autoimmune Thyroiditis
Constitutional and environmental factors Clinical factors Female sex Antecedents of Graves’ disease Adolescent age Association with extra-thyroidal autoimmune diseases Familiarity for thyroid diseases Iodine status alterations Association with Turner syndrome…
Neonatal Screening for Congenital Hypothyroidism: What It Has Taught us About Thyroid and Brain Development
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:…
Management of Congenital Hypothyroidism
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…
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…
