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Article

Rare cause of persistent hypocalcaemia in infancy due to PTH gene mutation.

BMJ case reports - 12 Sept 2023

Khadse Savita, Takalikar Vrushali Satish, Ghildiyal Radha, Shah Nikhil

Abstract excerpt

Hypocalcaemia is a frequently encountered electrolyte abnormality in neonates and it is mostly transient. However, persistent hypocalcaemia can point towards an endocrine abnormality like hypoparathyroidism, which is usually due to genetic disorders like DiGeorge and Kearns Sayre syndrome or due to mutations of genes like GCM2, CaSR and PTH.Our patient was a female child, who presented with hypocalcaemic...

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Identifiers

PMID: 37699739
DOI: 10.1136/bcr-2023-256358
PMCID: PMC10503314

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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