ArticleItalian journal of pediatrics2016
Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption.
Article in Italian journal of pediatrics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 30 citations in OpenAlex.
- 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
- Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A.BMC pediatrics · 2024Article
- Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations.European journal of endocrinology · 2023Observational
- High-throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects.The Journal of clinical endocrinology and metabolism · 2021Article
- Snow White and the Seven Dwarfs: a fairytale for endocrinologists.Endocrine connections · 2021Review
- Pseudohypoparathyroidism: application of the Italian common healthcare-pathway for a homogeneous clinical approach and a shared follow up.Italian journal of pediatrics · 2021Article
- Pseudohypoparathyroidism.Endocrinology and metabolism clinics of North America · 2018Review
- Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.Nature reviews. Endocrinology · 2018Review
- (Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.Journal of the Endocrine Society · 2018Article
- Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI.The Journal of clinical endocrinology and metabolism · 2018Article
- Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.Journal of clinical research in pediatric endocrinology · 2017Review
Corrections and comments
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Authors and funding
13 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGenetic and epigenetic alterations in the GNAS locus are responsible for the Gsα protein dysfunctions causing Pseudohypoparathyroidism (PHP) type Ia/c and Ib, respectively. For these heterogeneous diseases characterized by multiple hormone resistances and Albright's Hereditary Osteodystrophy (AHO) the current classification results inadequate because of the clinical overlap between molecular subtypes and a standard clinical approach is still missing. In the present paper several members of the Study Group Endocrine diseases due to altered function of Gsα protein of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED) have reviewed and updated the clinical-molecular data of the largest case series of (epi)/genetically characterized AHO/PHP patients; they then produced a common healthcare pathway for patients with these disorders.
methodsThe molecular analysis of the GNAS gene and locus identified the causal alteration in 74 subjects (46 genetic and 28 epigenetic mutations). The clinical data at the diagnosis and their evolution during up to 15 years follow-up were collected using two different cards.
resultsIn patients with genetic mutations the growth impairment worsen during the time, while obesity prevalence decreases; subcutaneous ossifications seem specific for this group. Brachydactyly has been detected in half of the subjects with epigenetic alterations, in which the disease overts later in life, often with symptomatic hypocalcaemia, and also early TSH and GHRH resistances have been recorded.
conclusionsA dedicated healthcare pathway addressing all these aspects in a systematic way would improve the clinical management, allowing an earlier recognition of some PHP features, the optimization of their medical treatment and a better clinical-oriented molecular analysis. Furthermore, standardized follow-up data would provide new insight into less known aspects.
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