ReviewHormone research in paediatrics2020
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.
Review in Hormone research in paediatrics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00209235 (Natural History Study of Albright Hereditary Osteodystrophy), which is not on this map. Cited by 46 papers.
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
Who cites it
46 citing papers in PubMed, 74 citations in OpenAlex.
- Clinical picture of early-infancy PTH resistance syndromes: is it time to improve diagnostic criteria?The Journal of clinical endocrinology and metabolism · 2026Article
- Severe infantile obesity with a maternalClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- A Case of Pseudohypoparathyroidism With Unusual Presentation and Novel Genetic Mutation.Cureus · 2026Article
- Three-generation familial transmission of a GNAS variant: from gestational phenotype in the mother to evolving prenatal/neonatal phenotype in the offspring.Hormones (Athens, Greece) · 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
- Utility of prenatal trio whole-exome sequencing and methylation-specific multiplex ligation-dependent probe amplification in the evaluation of fetal growth restriction.Frontiers in medicine · 2026Article
- From hypercalcemia to the diagnosis of pseudohypoparathyroidism type 1b: a case report.Frontiers in endocrinology · 2026Article
- Case Report: Developmental-like skeletal deformities and transient osteosclerosis as rare presentations of primary hyperparathyroidism.Frontiers in endocrinology · 2026Article
- Case Report: Three pathogenic molecular findings in a patient with myotonia congenita, pseudohypoparathyroidism, and a glaucoma-suspect phenotype.Frontiers in endocrinology · 2026Article
- Novel Variants and Clinical Heterogeneity in Pediatric Calcium Metabolism Disorders Identified Through High-Yield Tiered Genetic Testing in a Taiwanese Cohort.Medicina (Kaunas, Lithuania) · 2025Article
- Detection of chromosomal and gene abnormality with karyotyping, chromosomal microarray analysis and trio-based whole exome sequencing in pregnancies with fetal growth restriction: implications for precise prenatal diagnosis.BMC pregnancy and childbirth · 2025Article
- Bone in Parathyroid Diseases Revisited: Evidence From Epidemiological, Surgical and New Drug Outcomes.Endocrine reviews · 2025Review
- High Prevalence of Hypercalcitoninemia in a Large Cohort of Adult and Pediatric Patients With PTH Resistance Syndromes.The Journal of clinical endocrinology and metabolism · 2025Article
- Genetics of primary congenital hypothyroidism: three decades of discoveries and persisting etiological challenges.European thyroid journal · 2025Review
- Pseudohypoparathyroidism: Challenges in Early Recognition and Diagnosis of a Rare Hereditary Disorder.Cureus · 2025Article
- Analysis of the prevalence and incidence of pseudohypoparathyroidism in Poland based on National Health Fund data with clinical presentation of own cases.Frontiers in endocrinology · 2025Article
- Recurrent small variants in NESP55/NESPAS associated with broad GNAS methylation defects and pseudohypoparathyroidism type 1B.JCI insight · 2024Article
- Bone Microstructure and Bone Strength Among Patients with Pseudohypoparathyroidism.Calcified tissue international · 2024Article
- Growth Hormone Deficiency in an Adolescent With Pseudohypoparathyroidism Type 1B.JCEM case reports · 2024Article
- Novel 4.18 Mb deletion resulting in 2q37 microdeletion syndrome combined with PTH resistance found in one Chinese patient.Endocrine · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
43 authors at 20 institutions in 12 countries.
Funding
Abstract
Patients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brachydactyly, a short stature, a stocky build, early-onset obesity, ectopic ossifications, and neurodevelopmental deficits, as well as hormonal resistance most prominently to parathyroid hormone (PTH). In addition to these alterations, patients may develop other hormonal resistances, leading to overt or subclinical hypothyroidism, hypogonadism and growth hormone (GH) deficiency, impaired growth without measurable evidence for hormonal abnormalities, type 2 diabetes, and skeletal issues with potentially severe limitation of mobility. PHP and related disorders are primarily clinical diagnoses. Given the variability of the clinical, radiological, and biochemical presentation, establishment of the molecular diagnosis is of critical importance for patients. It facilitates management, including prevention of complications, screening and treatment of endocrine deficits, supportive measures, and appropriate genetic counselling. Based on the first international consensus statement for these disorders, this article provides an updated and ready-to-use tool to help physicians and patients outlining relevant interventions and their timing. A life-long coordinated and multidisciplinary approach is recommended, starting as far as possible in early infancy and continuing throughout adulthood with an appropriate and timely transition from pediatric to adult care.
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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.