Familial investigation of two cases of pseudohypoparathyroidism.

doi:10.3389/fendo.2026.1800965

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

Familial investigation of two cases of pseudohypoparathyroidism.

Frontiers in endocrinology - 1 Jan 2026

Yin Huihui, Liu Yuenan, Li Meixuan, Li Jiawen, Yu Yang, Du Jianling, Zhou Haicheng, Men Lili

Abstract excerpt

Object: To report the clinical and genetic characteristics of patients diagnosed with pseudohypoparathyroidism (PHP) or inactivating parathyroid hormone (PTH)/PTHrP signaling disorders (iPPSD), and to provide insights for the diagnosis and management of this rare inherited metabolic disorder. Methods: This study focused on two patients diagnosed with PHP or iPPSD, aiming to investigate their clinical and genetic...

Topics

Humans
Pseudohypoparathyroidism
Female
Pedigree
GTP-Binding Protein alpha Subunits, Gs
Chromogranins
Male
Mutation
Parathyroid Hormone
Exome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 42238246
DOI: 10.3389/fendo.2026.1800965
PMCID: PMC13226154

Genes

PTH
GNAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics