Document Detail

Role of the thyrotropin-releasing hormone stimulation test in diagnosis of congenital central hypothyroidism in infants.
MedLine Citation:
PMID:  18000095     Owner:  NLM     Status:  MEDLINE    
CONTEXT: A shortage of thyroid hormone during prenatal life and the first years after birth results in a spectrum of neuropsychological disorders, depending on the duration and severity of the deficiency. In the case of congenital hypothyroidism of central origin (CH-C), the majority of patients have multiple pituitary hormone deficiencies (MPHD). This condition poses an additional threat to postnatal central nervous system development, primarily on account of neuroglycopenia due to ACTH/cortisol deficiency with or without additional GH deficiency. Therefore, in CH-C, rapid diagnosis is even more urgent than in congenital hypothyroidism of thyroidal origin. OBJECTIVE: In the assessment of hypothalamic-pituitary-thyroid function, we considered the pituitary response to iv administration of TRH (TRH test) pivotal. We evaluated the usefulness of the TRH test in a cohort of infants with neonatal congenital hypothyroidism screening results indicative of CH-C by analyzing the results within the framework of investigations of the anatomical and functional integrity of the hypothalamo-hypophyseal system. DESIGN AND SETTING: The study was a Dutch nationwide prospective study (1994-1996). Patients were included if neonatal congenital hypothyroidism screening results were indicative of CH-C and patients could be tested within 3 months of birth. PATIENTS: Ten male and five female infants with CH-C, detected by neonatal screening, and six infants with false-positive screening results, nonthyroidal illness, or transient hypothyroidism, were included in the study. MAIN OUTCOME MEASURES: Results of TRH tests, within the framework of extensive endocrinological examinations and cerebral magnetic resonance imaging, were measured. RESULTS: All patients with type 3 TSH responses to TRH had MPHD, and the majority (67%) of patients with type 2 responses had isolated TSH deficiency. CONCLUSIONS: The TRH test has a pivotal role in the diagnosis of TSH deficiency in young infants. Abnormal TRH test results, especially a type 3 response, urge immediate assessment of integral hypothalamic-pituitary function because the majority of patients have MPHD.
David A van Tijn; Jan J M de Vijlder; Thomas Vulsma
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-11-13
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  93     ISSN:  0021-972X     ISO Abbreviation:  J. Clin. Endocrinol. Metab.     Publication Date:  2008 Feb 
Date Detail:
Created Date:  2008-02-08     Completed Date:  2008-04-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  410-9     Citation Subset:  AIM; IM    
Department of Pediatric Endocrinology, Emma Children's Hospital, G8-205, Academic Medical Center, University of Amsterdam, 1100 DE Amsterdam, The Netherlands.
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MeSH Terms
Adrenocorticotropic Hormone / blood
Area Under Curve
Cohort Studies
Congenital Hypothyroidism / blood,  diagnosis*
Gonadotropins / blood
Human Growth Hormone / blood
Infant, Newborn
Magnetic Resonance Imaging
Prolactin / blood
Prospective Studies
Statistics, Nonparametric
Thyrotropin / blood*
Thyrotropin-Releasing Hormone / diagnostic use*
Thyroxine / blood
Triiodothyronine / blood
Reg. No./Substance:
0/Gonadotropins; 12629-01-5/Human Growth Hormone; 24305-27-9/Thyrotropin-Releasing Hormone; 6893-02-3/Triiodothyronine; 7488-70-2/Thyroxine; 9002-60-2/Adrenocorticotropic Hormone; 9002-62-4/Prolactin; 9002-71-5/Thyrotropin
Comment In:
J Clin Endocrinol Metab. 2008 Feb;93(2):378-9   [PMID:  18258782 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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