Article
New genetics in congenital hypothyroidism.
Endocrine - 1 Mar 2021
Stoupa Athanasia, Kariyawasam Dulanjalee, Muzza Marina, de Filippis Tiziana, Fugazzola Laura, Polak Michel, Persani Luca, Carré Aurore
Abstract excerpt
INTRODUCTION: Congenital hypothyroidism (CH) is the most frequent neonatal endocrine disorder and one of the most common preventable forms of mental retardation worldwide. CH is due to thyroid development or thyroid function defects (primary) or may be of hypothalamic-pituitary origin (central). Primary CH is caused essentially by abnormal thyroid gland morphogenesis (thyroid dysgenesis, TD) or defective thyroid...
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