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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Published in:	The journal of clinical endocrinology and metabolism Vol. 98; no. 4; pp. 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:	Journal Article
Language:	English
Published:	Bethesda, MD Endocrine Society 01-04-2013 Copyright by The Endocrine Society
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 Italy Europe Endocrinopathy Human Obesity Endocrine gland Congenital Nutrition Thyroid diseases Nutrition disorder Metabolic diseases Infant Thyroid stimulating hormone Congenital anomaly Increase Thyroid gland Medical screening Hypothyroidism Congenital disease Adenohypophyseal hormone Specific registry Endocrinology Nutritional status
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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 <15.0 μU/mL. It was found that 21.6% of babies with permanent CH had TSH at screening of 15.0 μU/mL or less, whereas this percentage was 54% in infants with transient hypothyroidism. Among the babies with permanent CH and mild increase of TSH at screening (≤15 μU/mL), 19.6% had thyroid dysgenesis with serum TSH levels at confirmation of the diagnosis ranging from 9.9 to 708 μU/mL. These babies would have been missed at screening if the cutoff had been higher. Conclusions: Lowering TSH cutoff in our country has enabled us to detect additional cases of permanent CH, a number of which had defects of thyroid development and severe hypothyroidism at confirmation of the diagnosis.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0021-972X 1945-7197
DOI:	10.1210/jc.2012-3273