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Updated: Aug 21, 2026

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Case report: compound heterozygous PTH1R variant(s) in a patient with inactivating PTH/PTHrP signalling disorder type

Abhishek Kulkarni1, Devika Desai2, Joewin Monteiro3

  • 1Consultant & Head - Paediatric & Adolescent Endocrinologist, Sir HN Reliance Foundation Hospital & Research Centre Mumbai, India and SRCC Children's Hospital, Mumbai, India.

Journal of Pediatric Endocrinology & Metabolism : JPEM
|August 19, 2026
PubMed

Insights

This study reports a rare case of inactivating parathyroid hormone (PTH)/PTHrP signalling disorder type 1 (iPPSD1) in a child from the Indian subcontinent with novel compound heterozygous PTH1R variants. Early genetic diagnosis is crucial for managing this rare condition.

Area of Science:

  • Genetics
  • Endocrinology
  • Skeletal Biology

Background:

  • Inactivating parathyroid hormone (PTH)/PTHrP Signalling Disorder Type 1 (iPPSD1) is a rare genetic disorder caused by loss-of-function mutations in the PTH1R gene.
  • It leads to PTH resistance and diverse skeletal and dental issues, with compound heterozygous variants being exceptionally rare and linked to severe phenotypes.
Abstract

Keywords:
PTH1Rcompound heterozygous variantsiPPSD1parathyroid hormone (PTH) resistanceprimary failure of eruptionrare genetic disorder

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