| Increased Risk for Non-Autoimmune Hypothyroidism in Young Patients with Congenital Heart Defects. | |
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MedLine Citation:
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PMID: 21525159 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Context: Newborns with congenital hypothyroidism (CH) have an increased risk for congenital heart defects (CHD) due to a common embryonic developmental program between thyroid gland and heart and great vessels. Objective: Our objective was to investigate the prevalence and origin of thyroid disorders in young patients with CHD. Design and Setting: We conducted a prospective observational study between January 2007 and January 2009 in academic Pediatric Cardiosurgery and Endocrinology. Patients: Patients included 324 children (164 males, 160 females, aged 0.2-15.4 yrs) with CHD. Intervention: Subjects underwent hormonal and genetic screening. Main Outcome Measures: Serum TSH and thyroid hormone levels were assessed. Results: Two CHD patients were diagnosed with CH at the neonatal screening (1:162). Mild hypothyroidism (serum TSH > 4.0 μU/ml) was diagnosed and confirmed 6 months later [TSH = 5.4 ± 1.5 μU/ml; free T(4) = 1.3 ± 0.2 ng/dl (normal values 0.8-1.9)] in 37 children (11.5%) who were negative at neonatal screening. Hypothyroidism was not related to type of CHD, whereas TSH levels positively correlated with serum N-terminal pro-type B natriuretic peptide levels. Biochemical and ultrasound findings consistent with thyroid autoimmunity were present in three of 37 hypothyroid children (8.1%). One patient had hemiagenesis (2.7%). Variations in candidate genes were screened in CHD patients. NKX2.5 coding sequence was normal in all samples. A 3-Mb microdeletion in 22q11.2 was detected in three patients (8.3%), whereas only known polymorphisms were identified in TBX1 coding sequence. Conclusions: CHD patients have an increased risk for both CH (10-fold higher) and acquired mild hypothyroidism (3-fold higher). Unrecognized mild hypothyroidism may negatively affect the outcome of CHD children, suggesting that thyroid function should be repeatedly checked. Thyroid autoimmunity and 22q11.2 microdeletions account for small percentages of these cases, and still unknown mechanisms underline such a strong association. |
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Authors:
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E Passeri; M Frigerio; T De Filippis; R Valaperta; P Capelli; E Costa; L Fugazzola; F Marelli; P Porazzi; C Arcidiacono; M Carminati; B Ambrosi; L Persani; S Corbetta |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-4-27 |
Journal Detail:
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Title: The Journal of clinical endocrinology and metabolism Volume: - ISSN: 1945-7197 ISO Abbreviation: - Publication Date: 2011 Apr |
Date Detail:
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Created Date: 2011-4-28 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0375362 Medline TA: J Clin Endocrinol Metab Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Endocrinology and Diabetology Unit (E.P., B.A., S.C.); Dipartimento di Scienze Medico-Chirurgiche (E.P., B.A., S.C.), Università degli Studi di Milano; Molecular Biology Laboratory (M.F., R.V., P.C., E.C.); and Pediatric Cardiosurgery Unit (C.A., M.C.), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Donato, 20097 San Donato Milanese, Italy; and Laboratorio di Ricerche Endocrino-Metaboliche (T.D.F., L.P.), IRCCS Istituto Auxologico Italiano; Endocrine Unit (L.F.), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico; and Dipartimento di Scienze Mediche (F.M., P.P., L.P.), Università degli Studi di Milano, 20100 Milan, Italy. |
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