Chapter 16B Genetic Defects in Thyroid Hormone Supply, Thyroid Hormone Resistance Syndrome, Abnormalities of Thyroid Hormone Transport

• Introduction
• Congenital hypothyroidism: diagnosis and treatment
• Clinical manifestations
• Neonatal screening
• Diagnosis
• Genetic classification of congental thyroid diseases
• Central hypothyroidism
• Alterations of thyroid morphogenesis (thyroid dysgenesis)
• Defects in thyroid hormone synthesis (dyshormonogenesis)