A family of Pseudohypoparathyroidism: report on a family with affected three members

Authors

  • Antara Das Post Graduate Trainee
  • Kausik Goswami  Assistant Professor
  • Avik Ghoshal Speciality Doctor (Respiratory Medicine)
  • Soumita Roy Assistant Professor
  • Sk Rafikul Rahaman Professor and Head
  • Sukanta Sen Professor & Head

DOI:

https://doi.org/10.37506/55ff1r93

Keywords:

Parathyroid hormone (PTH), Pseudohypoparathyroidism (PHP), iPPSD: inactivating PTH/PTH-related protein signalling disorder.

Abstract

Pseudohypoparathyroidism (PHP) represents a group of disorders due to end organ resistance to the actions of parathyroid hormone (PTH) and abnormalities in the PTH signalling pathway. PHP is characterized by hypocalcaemia and hyperphosphataemia, with or without a variable expression of physical features. The constellations of these physical features together are termed Albright hereditary osteodystrophy (AHO). PHP and related disorders are primarily clinical diagnoses in our setting as confirmatory laboratory testing is not widely available. Molecular genetics is the gold standard for confirmation and categorization of PHP into the different subtypes, but with recent advances in molecular diagnostics a pathophysiological approach appears to be more practical in the clinical setting. We present here the clinical course of a family of Pseudohypoparathyroidism who have been followed up at Paediatric Department of our hospital.  The cases responded well with calcium and calcitriol supplementation without access to genetic testing in our hospital.

Author Biographies

  • Antara Das, Post Graduate Trainee

     Department of Pediatrics, ICARE Institute of Medical Sciences & Research, PO Balughata, Haldia 721645, West Bengal, India

  • Kausik Goswami,  Assistant Professor

      Department of Pediatrics, ICARE Institute of Medical Sciences & Research, PO Balughata, Haldia 721645, West Bengal, India 

  • Avik Ghoshal, Speciality Doctor (Respiratory Medicine)

     Department of Thoracic Oncology, Wythenshawe
    Hospital, Manchester University NHS Foundation Trust, M23 9LT, UK

  • Soumita Roy, Assistant Professor

    Department of Pediatrics, ICARE Institute of Medical Sciences & Research, PO Balughata, Haldia 721645, West Bengal, India 

  • Sk Rafikul Rahaman, Professor and Head

    Department of Pediatrics, ICARE Institute of Medical Sciences & Research, PO Balughata, Haldia 721645, West Bengal, India

  • Sukanta Sen, Professor & Head

    Department of Pharmacology, ICARE Institute of Medical Sciences & Research, PO Balughata, Haldia 721645, West Bengal, India

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Published

2024-07-04

How to Cite

A family of Pseudohypoparathyroidism: report on a family with affected three members. (2024). Indian Journal of Public Health Research & Development, 15(3), 1-6. https://doi.org/10.37506/55ff1r93