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We have previously reported on high thyroid-stimulating hormone (TSH) concentrations in clinically euthyroid children with congenital hypothyroidism (CH) undergoing appropriate treatment. Whether this TSH is biologically active or not is still unclear. It has been shown that ectopic thyroid tissue does not involute during thyroxine (T4) therapy and thus can continue to secrete thyroglobulin (Tg). This study was undertaken to determine whether the Tg levels in ectopic CH infants represent residual thyroid tissue stimulated by biologically active TSH and whether this Tg can be used to help monitor CH treatment. Among the 51 primary CH children (age 2-14 years) diagnosed and followed up by us, 28 had measurable Tg values (> 2 pmol/l) several years after the T4 treatment had been started. In 8 of the children, Tg was measured as early as the time of diagnosis and followed up for at least 3 years. The Tg levels decreased much more slowly than the TSH levels did, and secondary Tg rises were observed. By 5 months of age, all children had Tg levels less than 25 pmol/l. Although in some infants the Tg levels paralleled TSH behavior, in others the TSH-Tg correlation was not so obvious. In another group of 8 children who had high TSH values despite normal T4, the LT4 replacement dosage was increased by 60% for 1 week (from 3.5 +/- 0.2 to 5.5 +/- 0.5 micrograms/kg/day) in order to examine the TSH-Tg dependence.(ABSTRACT TRUNCATED AT 250 WORDS)

Nonketotic hyperosmolar diabetic coma is well known in adults, but infrequently reported in children. This syndrome is associated with a 20-70% mortality rate. We report the successful treatment of a 12.5 year old girl with a hyperglycemic (1,800 mg/dl glucose) nonketotic hyperosmolar diabetic coma and summarize the reported cases in the literature.

We describe 2 Arab patients, both offspring of unrelated consanguineous matings, with unusual facial appearance, severe mental retardation, microcephaly, cortical atrophy, seizures, hypotonia, dwarfism, and recurrent infections with neutrophilia. Neutrophil motility was markedly decreased but the opsonophagocytic activity was normal. Both patients lack the red blood cell (RBC) H antigen and manifest the Bombay (hh) phenotype. Familial endocardial fibroelastosis and familial tetralogy of Fallot segregated independently in one family. The occurrence of the same syndrome in 2 unrelated families suggests that the various aspects of the disorder are the pleiotropic effects of a single mutation. Homozygosity-by-descent for a deletion involving contiguous genes may explain the findings in this syndrome. Alternatively, a mutation which involves an ubiquitous GDP fucose donor rather than the enzyme (alpha 2-L-fucosyltransferase) or its substrate (glcNAc) may account for the pleiotropic manifestations in this syndrome.