ReviewCurrent opinion in endocrinology, diabetes, and obesity2012
An update on the clinical and molecular characteristics of pseudohypoparathyroidism.
Review in Current opinion in endocrinology, diabetes, and obesity, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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Who cites it
44 citing papers in PubMed, 115 citations in OpenAlex.
- Article
- A Case of Pseudohypoparathyroidism With Unusual Presentation and Novel Genetic Mutation.Cureus · 2026Article
- Variability of endocrine findings with age and clinical severity in the long-term follow-up of pseudohypoparathyroidism: evidence of TRH resistance with central hypothyroidism.Frontiers in endocrinology · 2026Article
- From hypercalcemia to the diagnosis of pseudohypoparathyroidism type 1b: a case report.Frontiers in endocrinology · 2026Article
- Neuroendocrinology and the Genetics of Obesity.Endocrinology · 2025Review
- Atypical presentation of pseudohypoparathyroidism with absence of mutations in the GNAS gene: a case report.BMC endocrine disorders · 2025Article
- Epileptic seizures and abnormal tooth development as primary presentation of pseudohypoparathyroidism type 1B.BMJ case reports · 2024Article
- Syndromic and Monogenic Obesity: New Opportunities Due to Genetic-Based Pharmacological Treatment.Children (Basel, Switzerland) · 2024Review
- Whole-genome sequencing revealed a novel long-range deletion mutation spanning GNAS in familial pseudohypoparathyroidism.Molecular genetics & genomic medicine · 2023Article
- Article
- Infant With Pseudohypoparathyroidism Type 1a, Misdiagnosed as Congenital Hypothyroidism.Medical archives (Sarajevo, Bosnia and Herzegovina) · 2023Review
- Clinical and genetic analysis of pseudohypoparathyroidism complicated by hypokalemia: a case report and review of the literature.BMC endocrine disorders · 2022Review
- Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children.BMC endocrine disorders · 2022Article
- Aberrant Bone Regulation in Albright Hereditary Osteodystrophy dueto Gnas Inactivation: Mechanisms and Translational Implications.Current osteoporosis reports · 2022Review
- [Syndroms associated with benign skin tumors].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2022Review
- Parental Origin ofJBMR plus · 2022Article
- An intricate case of sporadic pseudohypoparathyroidism type 1B with a review of literature.Archives of endocrinology and metabolism · 2021Review
- A unique case of bilateral triceps avulsion fracture in a patient with pseudohypoparathyroidism.Shoulder & elbow · 2021Article
- Pseudohypoparathyroidism: application of the Italian common healthcare-pathway for a homogeneous clinical approach and a shared follow up.Italian journal of pediatrics · 2021Article
- Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome.Genes · 2021Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
purpose of reviewTo provide the reader with a review of contemporary literature describing the evolving understanding of the molecular pathobiology of pseudohypoparathyroidism (PHP). RECENT
findingsThe features of PHP type 1 reflect imprinting of the GNAS gene, which encodes the α subunit of the heterotrimeric G protein (Gα(s)) that couples heptahelical receptors to activation of adenylyl cyclase. Transcription of Gα(s) is biallelic in most cells, but is primarily from the maternal allele in some tissues (e.g. proximal renal tubules, thyroid, pituitary somatotropes, gonads). Patients with PHP 1a have heterozygous mutations within the exons of the maternal GNAS allele that encode Gα(s), whereas patients with PHP 1b have methylation defects in the GNAS locus that reduce transcription of Gα(s) from the maternal allele. In both PHP 1a and PHP 1b, paternal imprinting of Gα(s) leads to resistance to parathyroid hormone and TSH. Although brachydactyly is characteristic of PHP 1a, it is sometimes present in patients with PHP 1b. SUMMARY: Molecular studies enable a distinction between PHP 1a and PHP 1b, with different mechanisms accounting for Gα(s) deficiency. Clinical overlap between these two forms of PHP type 1 is likely due to the variable levels of Gα(s) activity expressed in specific cell types.
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