publication . Article . 2015

Recent Advances in Central Congenital Hypothyroidism

Schoenmakers, Nadia; Alatzoglou, Kyriaki S; Chatterjee, V Krishna; Dattani, Mehul T;
Open Access English
  • Published: 28 Sep 2015
  • Publisher: Society for Endocrinology
  • Country: United Kingdom
Abstract
Central Congenital Hypothyroidism (CCH) may occur in isolation, or more frequently in combination with additional pituitary hormone deficits with or without associated extrapituitary abnormalities. Although uncommon, it may be more prevalent than previously thought, affecting up to 1:16000 neonates in the Netherlands. Since TSH is not elevated, CCH will evade diagnosis in primary, TSH-based, CH screening programs and delayed detection may result in neurodevelopmental delay due to untreated neonatal hypothyroidism; alternatively coexisting growth hormone or ACTH deficiency may pose additional risks, such as life threatening hypoglycaemia. Genetic ascertainment is...
Subjects
free text keywords: Congenital Hypothyroidism, Central Hypothyroidism, Hypopituitarism, Thyrotropin releasing hormone, Review
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