Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome

Devi Dayal; Inusha Panigrahi; Tandra Varma; Saniya Gupta; Atul Gupta; Rakesh Kumar; Naresh Sachdeva

doi:10.5114/pedm.2020.100402

eISSN: 2083-8441
ISSN: 2081-237X

Pediatric Endocrinology Diabetes and Metabolism

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abstract:

Case report

Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome

Devi Dayal

¹

,

Inusha Panigrahi

²

,

Tandra Varma

¹

,

Saniya Gupta

¹

,

Atul Gupta

¹

,

Rakesh Kumar

¹

,

Naresh Sachdeva

³

Endocrinology and Diabetes Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, India
Genetic-Metabolic Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
Department of Endocrinology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Pediatr Endocrinol Diabetes Metab 2021; 27 (1): 57–61

DOI: https://doi.org/10.5114/pedm.2020.100402

Online publish date: 2020/11/04

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AMA

Dayal D, Panigrahi I, Varma T, et al. Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome. Pediatric Endocrinology Diabetes and Metabolism. 2021;27(1):57-61. doi:10.5114/pedm.2020.100402.

APA

Dayal, D., Panigrahi, I., Varma, T., Gupta, S., Gupta, A.,  & Kumar, R. et al. (2021). Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome. Pediatric Endocrinology Diabetes and Metabolism, 27(1), 57-61. https://doi.org/10.5114/pedm.2020.100402

Chicago

Dayal, Devi, Inusha Panigrahi, Tandra Varma, Saniya Gupta, Atul Gupta, Rakesh Kumar,  and Naresh Sachdeva. 2021. "Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome". Pediatric Endocrinology Diabetes and Metabolism 27 (1): 57-61. doi:10.5114/pedm.2020.100402.

Harvard

Dayal, D., Panigrahi, I., Varma, T., Gupta, S., Gupta, A., Kumar, R.,  and Sachdeva, N. (2021). Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome. Pediatric Endocrinology Diabetes and Metabolism, 27(1), pp.57-61. https://doi.org/10.5114/pedm.2020.100402

MLA

Dayal, Devi et al. "Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome." Pediatric Endocrinology Diabetes and Metabolism, vol. 27, no. 1, 2021, pp. 57-61. doi:10.5114/pedm.2020.100402.

Vancouver

Dayal D, Panigrahi I, Varma T, Gupta S, Gupta A, Kumar R et al. Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome. Pediatric Endocrinology Diabetes and Metabolism. 2021;27(1):57-61. doi:10.5114/pedm.2020.100402.

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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

keywords:

Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome

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

children, hypoparathyroidism, recombinant parathyroid hormone, Jacobsen syndrome

Devi Dayal

¹

,

Inusha Panigrahi

²

,

Tandra Varma

¹

,

Saniya Gupta

¹

,

Atul Gupta

¹

,

Rakesh Kumar

¹

,

Naresh Sachdeva

³