eISSN: 2083-8441
ISSN: 2081-237X
Pediatric Endocrinology Diabetes and Metabolism
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SCImago Journal & Country Rank

 
1/2021
vol. 27
 
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Dziesięcioletnie leczenie rekombinowanym parathormonem niedoczynności przytarczyc u chłopca z częściowym zespołem Jacobsena

Devi Dayal
1
,
Inusha Panigrahi
2
,
Tandra Varma
1
,
Saniya Gupta
1
,
Atul Gupta
1
,
Rakesh Kumar
1
,
Naresh Sachdeva
3

1.
Endocrinology and Diabetes Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, India
2.
Genetic-Metabolic Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
3.
Department of Endocrinology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
Pediatr Endocrinol Diabetes Metab 2021; 27 (1): 57–61
Data publikacji online: 2020/11/04
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Pediatric hypoparathyroidism (HPT) is caused by inherited or acquired defects involving the synthesis or secretion of PTH, resistance to PTH action, or inappropriate regulation of PTH. Several syndromes such as DiGeorge syndrome, HDR (hypoparathyroidism, sensorineural deafness and renal dysplasia) syndrome, HRD (hypoparathyroidism, retardation, and dysmorphism) syndrome, Kenny-Caffey syndrome etc. may have associated HPT. In the present communication, we describe, the hitherto unreported, occurrence of HPT in a child with partial Jacobsen syndrome. Chromosomal Microarray analysis showed a heterozygous deletion of 4.7 Mb at cytoband 11q24.3q25 encompassing approximately 20 genes including JAM3 and NTM genes. The child was treated with recombinant human parathyroid hormone (rhPTH1-34) for 10 years. Throughout follow up, he required several adjustments in dosages of rhPTH1-34 and oral calcium to maintain serum calcium concentrations in low normal ranges. The bone turnover markers remained normal and oral calcium supplements were completely taken off after 8 years. In conclusion, our single-case experience indicates that long-term therapy of chronic HPT with rhPTH1-34 is safe and reduces the need for additional therapies
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