Congenital central hypothyroidism (CCH) is a rare condition occurring in 1 : 20000 to 1 : 50000 newborns. As TSH plasma levels are low, CCH is usually not detected by TSH-based neonatal screening for hypothyroidism, and, as a result, diagnosis is often delayed putting affected children at risk for developmental delay and growth failure. We report on a girl with isolated central hypothyroidism d...

TSH concentrations in dried blood samples on filter paper were determined by a conventional enzyme-linked immunosorbent assay (ELISA), used for routine neonatal screening for primary hypothyroidism, and a highly sensitive bioluminescence ELISA (BL-ELISA) using firefly luciferase to examine whether central hypothyroidism and hyperthyroidism can be efficiently detected as cases of primary hypothy...

An appraisal of a 17-year primary thyroid stimulating hormone (TSH) screening programme for the detection of congenital hypothyroidism was carried out to establish the reference interval of cord blood TSH in unaffected infants; the mean cord blood TSH concentration of affected infants and the incidence of congenital hypothyroidism in the Najran province of Saudi Arabia. Our findings show a refe...

OBJECTIVES To assess the prevalence of congenital hypothyroidism and the ability of various neonatal thyroid-stimulating hormone (TSHneo) cutoff values to detect this disease. METHODS This cohort study was based on the retrospective collection of information available from the Reference Service for Newborn Screening database for all live births from January 1, 2010, to December 31, 2012, asse...

1 Hulse JA, Grant DB, Jackson D, Clayton BE. Growth, development, and reassessment of hypothyroid infants diagnosed by screening. BMJ 1982; 284:1435-7. 2 Abusrewil SSA, Tyfield L, Savage DCL. Serum thyroxine and thyroid stimulating hormone concentrations after treatment of congenital hypothyroidism. Arch Dis Child 1988;63:1368-71. 3 Germak JA, Foley TP. Longitudinal assessment of 1-thyroxine th...

Among 436 959 live infants born between 1970 and 1975 in Denmark were 72 (49 girls and 23 boys) who developed primary hypothyroidism, giving an incidence of 1 in 6064 live births. In the oldest group (6 to 8 years of age) the incidence was 1 in 5100. The age at diagnosis ranged from 1 week to 5 years 4 months; 10% were diagnosed within the first month, 40% within the first 3 months, and 70% wit...

This report describes monozygous twin girls with different forms of thyroid dysfunction. Twin A was found to have athyreotic hypothyroidism during the first week of life; twin B developed acute hyperthyroidism at 16 years of age. While concordance and discordance for congenital hypothyroidism has been reported in several sets of twins (Table I) there have been no prior reports of congenital hyp...