Congenital Hypothyroidism due to Defects of Thyroid Development and Mild Increase of TSH at Screening: Data From the Italian National Registry of Infants With Congenital Hypothyroidism

Context: Over the years lower TSH cutoffs have been adopted in some screening programs for congenital hypothyroidism (CH) worldwide. This has resulted in a progressive increase in detecting additional mild forms of the disease, essentially with normally located and shaped thyroid. However, the quest...

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Bibliographic Details
Published in:The journal of clinical endocrinology and metabolism 2013-04, Vol.98 (4), p.1403-1408
Main Authors: Olivieri, Antonella, Corbetta, Carlo, Weber, Giovanna, Vigone, Maria Cristina, Fazzini, Cristina, Medda, Emanuela, The Italian Study Group for Congenital Hypothyroidism
Format: Article
Language:English
Subjects:
Biological and medical sciences
Congenital Hypothyroidism - blood
Congenital Hypothyroidism - diagnosis
Congenital Hypothyroidism - epidemiology
Congenital Hypothyroidism - etiology
Endocrinopathies
Feeding. Feeding behavior
Fundamental and applied biological sciences. Psychology
Humans
Incidence
Infant, Newborn
Infant, Premature, Diseases - blood
Infant, Premature, Diseases - classification
Infant, Premature, Diseases - diagnosis
Italy - epidemiology
Medical sciences
Neonatal Screening - methods
Non tumoral diseases. Target tissue resistance. Benign neoplasms
Registries
Severity of Illness Index
Thyroid Dysgenesis - blood
Thyroid Dysgenesis - complications
Thyroid Dysgenesis - diagnosis
Thyroid Dysgenesis - epidemiology
Thyroid Function Tests
Thyroid Gland - abnormalities
Thyroid Gland - diagnostic imaging
Thyroid. Thyroid axis (diseases)
Thyrotropin - blood
Thyroxine - blood
Ultrasonography
Up-Regulation
Vertebrates: anatomy and physiology, studies on body, several organs or systems
Vertebrates: endocrinology
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Summary:Context: Over the years lower TSH cutoffs have been adopted in some screening programs for congenital hypothyroidism (CH) worldwide. This has resulted in a progressive increase in detecting additional mild forms of the disease, essentially with normally located and shaped thyroid. However, the question of whether such additional mild CH cases can benefit from detection by newborn screening and early thyroid hormone treatment is still open. Objective: The aim of this study was to estimate the frequency of cases with mild increase of TSH at screening in the Italian population of babies with permanent CH and to characterize these babies in terms of diagnosis classification and neonatal features. Methods: Data recorded in the Italian National Registry of infants with CH were analyzed. Results: Between 2000 and 2006, 17 of the 25 Italian screening centers adopted a TSH cutoff at screening of
ISSN:0021-972X
1945-7197
DOI:10.1210/jc.2012-3273