Discover Community Create You

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

Article

Non-Classical Presentations of Rare Hereditary Hypoparathyroidism: A Case Series of CASR, GNA11 and GATA3 Mutations.

Clinical endocrinology - 1 Jul 2026

Bibik Ekaterina, Meirambek Kamila, Salimkhanov Rustam, Eremkina Anna, Popov Sergey, Dobreva Ekaterina, Yukina Marina, Troshina Ekaterina, Mokrysheva Natalia

Abstract excerpt

BACKGROUND: Hereditary hypoparathyroidism (hypoPT) is a rare endocrine disorder caused by absent or insufficient parathyroid hormone (PTH) secretion. Genetic forms are uncommon and frequently underdiagnosed, particularly when clinical onset is atypical. PURPOSE: We present a case series of three patients with genetic hypoPT caused by CASR, GNA11 and GATA3 mutations, highlighting atypical clinical presentation,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to GATA3 Transcription Factor

Share to GTP-Binding Protein alpha Subunits

Share to Hearing Loss, Sensorineural

Share to Hypocalcemia

Share to Hypoparathyroidism

Share to Mutation

Source

Identifiers

PMID: 41952051
DOI: 10.1111/cen.70141

Genes

PTH
CASR
GATA3
GNA11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Non-Classical Presentations of Rare Hereditary Hypoparathyroidism: A Case Series of CASR, GNA11 and GATA3 Mutations.PMID 41952051Read ↗

Rare Forms of Hereditary Hypoparathyroidism: Delayed Diagnosis Due To Atypical Disease OnsetSemantic proximity Read ↗

Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population.Semantic proximity Read ↗

Heritable forms of primary hyperparathyroidism: a current perspective.Semantic proximity Read ↗

Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.Semantic proximity Read ↗

Regarding Non-Classical Presentations of Rare Hereditary Hypoparathyroidism: A Case Series of CASR, GNA11, and GATA3 Mutations in Parathyroidology.Semantic proximity Read ↗

Clinical spectrum and long-term follow-up of non-surgical hypoparathyroidism with novel AIRE and GATA3 variants from India.Semantic proximity Read ↗

Divergent clinical presentations and management of calcium-sensing receptor (CaSR) mutations: a case report.Semantic proximity Read ↗

Primary hyperparathyroidism in children and adolescents.Semantic proximity Read ↗

Hyperparathyroidism in hereditary syndromes: special expressions and special managements.Semantic proximity Read ↗

Evolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical PerspectiveSemantic proximity Read ↗

Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A 2017 updateSemantic proximity Read ↗

Familial Hypocalciuric Hypercalcemia: The Challenge of DiagnosisSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.