Pradnya S Upadhye

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OBJECTIVE To detect growth hormone GH-1 gene deletions (6.7 kb, 7.6 kb, 7 kb) in familial/nonfamilial isolated growth hormone deficiency (IGHD) and note their clinical and investigative profile. METHODS Thirty (M16,F14) prepubertal IGHD patients aged 0.25 to 14 y, from 25 families were screened. Duration of growth failure, relevant history, clinical(More)
A total of 25,244 full term consecutive newborns were screened for hypothyroidism at 24 to 96 h of birth using the filter paper technique for thyroxine. The screening protocol based on our pilot study considered filter paper thyroxine (FP-T4) values of 51 to 80 ng/ml (-1 SD) as borderline and < 50 ng/ml (-2 SD) as high risk for congenital hypothyroidism.(More)
BACKGROUND Various mutations of the growth hormone releasing hormone receptor (GHRH-R) gene have been recently described to cause familial isolated growth hormone (GH) deficiency (FIGHD), with the GHRH-R nonsense mutation E72X reported in patients with FIGHD from South Asia. The molecular genetic basis of FIGHD in Indian children is not known. OBJECTIVE(More)
OBJECTIVE To study the clinical, biochemical, hormonal, radiological and histopathological profile of adrenocortical tumors in children; to assess the clinicopathological correlations and note the future outcome. DESIGN Retrospective and prospective study. SETTING Hospital based; Endocrine Service of our institution and other institution based services.(More)
OBJECTIVE To screen Isolated Growth Hormone Deficiency (IGHD) patients with congenital Familial Isolated (FIGHD) and Nonfamilial Isolated Growth Hormone Deficiency (NFIGHD) for GH1gene deletions (6.7 kb,7.6 kb,7 kb) and Growth hormone releasing hormone receptor GHRHR(E72X) gene mutation and study genotype/phenotype correlation in this multicentre study. (More)
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