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Neonatal Detection of Congenital Hypothyroidism of Central Origin

Department of Pediatric Endocrinology (D.A.v.T., J.J.M.d.V., T.V.), Emma Children’s Hospital AMC, Academic Medical Center, University of Amsterdam, NL-1100 DE Amsterdam, The Netherlands; Department of Radiology (B.V.), Academic Medical Center, University of Amsterdam, NL-1100 DE Amsterdam, The Netherlands; and Department of Social Pediatrics and Child and Youth Health Care (P.H.V.), The Netherlands Organization for Applied Scientific Research (TNO) Prevention and Health, NL-2301 CE Leiden, The Netherlands

Address all correspondence and requests for reprints to: David A. van Tijn, M.D., Department of Pediatric Endocrinology, Emma Children’s Hospital AMC, Academic Medical Center, G2-133, University of Amsterdam, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands. E-mail: tijn1{at}planet.nl.

Due to the high frequency of concurrent pituitary hormone deficiencies, congenital hypothyroidism (CH) of central origin (CH-C) is a life-threatening disorder. Yet only a minority of these patients are detected by neonatal CH screening programs worldwide. We conducted a prospective multicenter study involving a 2-yr cohort of neonatally diagnosed CH-C patients to determine whether a T₄-TSH-based neonatal CH screening protocol extended with T₄ binding globulin determinations improves early detection of CH-C and to assess the extent of pituitary hormone deficiency among the identified CH-C patients. In all infants with screening results indicative of CH-C, the functional integrity of the hypothalamo-hypophyseal system was investigated by dynamic tests; the anatomical integrity was investigated by magnetic resonance imaging. Initial test results were evaluated after 5 yr of follow-up. Among 385,000 infants screened over the 2-yr period, 19 cases of permanent CH-C were detected (prevalence, 1:20,263; 95% confidence interval, 1:12,976 to 1:33,654), representing 13.5% of all detected cases of permanent CH. The majority (78%) had multiple pituitary hormone deficiency, whereas 53% had pituitary malformations on magnetic resonance imaging. We conclude that infants with CH-C can very well be detected by neonatal screening. The estimated prevalence and the severity of pituitary dysfunction of this treatable disorder call for explicit attention for this entity of CH in neonatal screening programs worldwide.

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