Calcitonin secretion in congenital nongoitrous cretinism.

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Calcitonin secretion in congenital nongoitrous cretinism.

Plasma calcitonin (CT) was measured in the basal state and/or during provocative tests of hormone secretion in 11 children with congenital non-goitrous cretinism (CNC), in 1 girl with a lingual thyroid, and in 11 normal children. Basal and stimulated CT concentrations were significantly lower in the patients with CNC than in the normal subjects. Mean basal CT (+/- SE) was 41 +/- 4 pg/ml in the ...

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Congenital hypothyroidism (cretinism) in neuroD2-deficient mice.

Mice lacking neuroD2, a basic helix-loop-helix transcription factor involved in brain development, show growth retardation and other abnormalities consistent with hypothalamic-pituitary-thyroid (HPT) axis dysfunction. neuroD2 is expressed in the paraventricular hypothalamic nuclei, the anterior lobe of pituitary, and the thyroid gland. In neuroD2-deficient mice, thyrotropin-releasing hormone, t...

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Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.

OBJECTIVE Nonsyndromic autosomal recessively inherited nongoitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB and NKX2-5. We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG. DESIGN Because consanguinity in individuals with a presumptive genetic condition is often an indicat...

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Regulation of Calcitonin Secretion

Address reprint requests to Dr. Heath. Receivedfor publication 3 August 1979 and in revisedform 10 September 1979. J. Clin. Invest. ©D The American Society for Clinical Investiga major importance in physiologic regulation of calcitonin secretion. The findings are consistent with the hypothesis that calcitonin functions to prevent excessive postprandial hypercalcemia.

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Early diagnosis and early therapy in congenital cretinism.

How soon can the diagnosis of congenital cretinism be made? Isolated cases have been diagnosed at birth (Abels, 1911). There is a photograph in Potter's (1952) monograph showing an infant at the age of I month with the typical facies; the case had been diagnosed and, judging by a later view, successfully treated by McIntosh (1952). Wieland (1940), who has great experience, claims that he observ...

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ژورنال

عنوان ژورنال: Journal of Clinical Investigation

سال: 1980

ISSN: 0021-9738

DOI: 10.1172/jci109742