ReviewNature reviews. Endocrinology2018
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.
Review in Nature reviews. Endocrinology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 179 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Natural History Study of Albright Hereditary Osteodystrophy: Includes Substudies on Effects of Growth Hormone in Patients With Pseudohypoparathyroidism Type 1A and Cognitive & Behavioral Studies in Albright Hereditary Osteodystrophy
Impaired Quality of Life and Cognitive Function in Patients With Hypoparathyroidism Might be Explained by Disturbed Capillary Flow Patterns in the Brain
Who cites it
179 citing papers in PubMed, 2 syntheses or guidelines pooled it, 329 citations in OpenAlex.
- Progressive osseous heteroplasia in a 5-year-old boy with a novel mutation in exon 2 of GNAS: a case presentation and literature review.BMC musculoskeletal disorders · 2023Pooled it
- Osteomyelitis variolosa, an issue inherited from the past: case report and systematic review.Orphanet journal of rare diseases · 2021Pooled it
- Eiken syndrome presenting as pseudohypoparathyroidism due toJCEM case reports · 2026Article
- Iron and Other Metal Ions in Human Health and Disease.MedComm · 2026Review
- Fahr syndrome in an 18-year-old male with pseudohypoparathyroidism: Clinical-radiological dissociation.Radiology case reports · 2026Article
- Clinical picture of early-infancy PTH resistance syndromes: is it time to improve diagnostic criteria?The Journal of clinical endocrinology and metabolism · 2026Article
- Brachydactyly Type A1 Caused by anReports (MDPI) · 2026Article
- Severe infantile obesity with a maternalClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- The association of GNAS defects with pro-inflammatory adipokine levels in pseudohypoparathyroidism type 1.Journal of endocrinological investigation · 2026Article
- A Case of Pseudohypoparathyroidism With Unusual Presentation and Novel Genetic Mutation.Cureus · 2026Article
- Pattern of height and weight development in a large cohort of underage Chinese pseudohypoparathyroidism patients from a single center.Endocrine connections · 2026Article
- Article
- Concordant epigenetic and discordant clinical PHP1B/iPPSD3 manifestations in two monozygotic adolescent twins.Clinical epigenetics · 2026Article
- European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025.Orphanet journal of rare diseases · 2026Review
- A maternal exon H splice-site variant leading to pseudohypoparathyroidism type 1B with broad methylation defects in GNAS-differentially methylated regions.Clinical epigenetics · 2026Article
- Adult-onset pseudohypoparathyroidism type 1B diagnosed by methylation analysis: A case report and diagnostic considerations.Medicine · 2026Article
- Familial investigation of two cases of pseudohypoparathyroidism.Frontiers in endocrinology · 2026Article
- Macrohormones in endocrinology: prevalence, clinical impact, and diagnostic approaches.Frontiers in endocrinology · 2026Review
- Late-onset atypical pseudohypoparathyroidism type 1A with intracranial calcification and epilepsy associated with a novelFrontiers in endocrinology · 2026Article
- Normocalcemic pseudohypoparathyroidism type 1B complicated by hypokalemia: A case report.SAGE open medical case reports · 2026Article
119 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
46 authors at 20 institutions in 13 countries.
Funding
Abstract
This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early-onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types. A specific diagnosis is often delayed owing to lack of recognition of the syndrome and associated features. The participants in this Consensus Statement agreed that the diagnosis of PHP should be based on major criteria, including resistance to PTH, ectopic ossifications, brachydactyly and early-onset obesity. The clinical and laboratory diagnosis should be confirmed by a molecular genetic analysis. Patients should be screened at diagnosis and during follow-up for specific features, such as PTH resistance, TSH resistance, growth hormone deficiency, hypogonadism, skeletal deformities, oral health, weight gain, glucose intolerance or type 2 diabetes mellitus, and hypertension, as well as subcutaneous and/or deeper ectopic ossifications and neurocognitive impairment. Overall, a coordinated and multidisciplinary approach from infancy through adulthood, including a transition programme, should help us to improve the care of patients affected by these disorders.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.