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Article

Diagnosis and management of congenital hypothyroidism associated with pseudohypoparathyroidism.

Hormone research in paediatrics - 1 Jan 2015

Picard Charlotte, Decrequy Anne, Guenet David, Bursztejn Anne Claire, Toledano Daniel, Richard Nicolas, Kottler Marie-Laure

Abstract excerpt

UNLABELLED: Hypothyroidism is a particular condition observed in pseudohypoparathyroidism (PHP), a rare disorder characterized by parathyroid (PTH) resistance leading to hypocalcemia and hyperphosphatemia associated with a GNAS (guanine nucleotide-binding protein α-subunit) mutation (PHP1A) or epimutation (PHP1B). To determine the presence of hypothyroidism at birth we conducted a retrospective study in our...

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Source

Identifiers

PMID: 25591844
DOI: 10.1159/000369492

Genes

PTH
GNAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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