For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
4
views
12
references
 Top references
cited by
0
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
0 collections
    0
    shares
      278
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      A patient with pseudohypoparathyroidism type 1A previously misdiagnosed as hereditary multiple exostosis: A case report

      case-report

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Pseudohypoparathyroidism type 1A (PHP1A), a rare hereditary disorder, is featured by end-organ resistance to parathyroid hormone and Albright's hereditary osteodystrophy. Heterozygous mutation of guanine nucleotide-binding protein α stimulating ( GNAS) gene causes the half decreased bioactivity of the Gsα protein levels. Due to the diverse early clinical manifestations of PHP1A, a diagnosis of PHP1A is often easily overlooked and misdiagnosis or missed diagnosis is common. The present study described a girl who was initially diagnosed with hereditary multiple exostoses, but was afterwards confirmed with PHP1A. Moreover, genetic analysis indicated a new mutation (c2277deIC) of the gene.

          Related collections

          Most cited references12

          • Record: found
          • Abstract: found
          • Article: found
          Is Open Access

          Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

          Giovanna Mantovani, Murat Bastepe, David Monk … (2018)
          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.
          Article 0 comments Cited 105 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Clinical review: Pseudohypoparathyroidism: diagnosis and treatment.

            Giovanna Mantovani (2011)
            The term pseudohypoparathyroidism (PHP) indicates a group of heterogeneous disorders whose common feature is represented by impaired signaling of various hormones (primarily PTH) that activate cAMP-dependent pathways via Gsα protein. The two main subtypes of PHP, PHP type Ia, and Ib (PHP-Ia, PHP-Ib) are caused by molecular alterations within or upstream of the imprinted GNAS gene, which encodes Gsα and other translated and untranslated products. A PubMed search was used to identify the available studies (main query terms: pseudohypoparathyroidism; Albright hereditary osteodystrophy; GNAS; GNAS1; progressive osseous heteroplasia). The most relevant studies until February 2011 have been included in the review. Despite the first description of this disorder dates back to 1942, recent findings indicating complex epigenetic alterations beside classical mutations at the GNAS complex gene, pointed out the limitation of the actual classification of the disease, resulting in incorrect genetic counselling and diagnostic procedures, as well as the gap in our actual knowledge of the pathogenesis of these disorders. This review will focus on PHP type I, in particular its diagnosis, classification, treatment, and underlying molecular alterations.
            Article 0 comments Cited 70 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: not found
              • Article: not found

              Pseudohypoparathyroidism

              Agnès Linglart, Michael Levine, Harald Jüppner (2018)
              Article 0 comments Cited 32 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Journal
                Journal ID (nlm-ta): Exp Ther Med
                Journal ID (iso-abbrev): Exp Ther Med
                Journal ID (publisher-id): ETM
                Title: Experimental and Therapeutic Medicine
                Publisher: D.A. Spandidos
                ISSN (Print): 1792-0981
                ISSN (Electronic): 1792-1015
                Publication date Collection: September 2022
                Publication date (Electronic): 28 July 2022
                Publication date PMC-release: 28 July 2022
                Volume: 24
                Issue: 3
                Electronic Location Identifier: 597
                Affiliations
                [1 ]Department of Pediatrics, Hangzhou Children's Hospital, Hangzhou, Zhejiang 310014, P.R. China
                [2 ]Department of Otolaryngology, Affiliated Hangzhou First People's Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, P.R. China
                Author notes
                Correspondence to: Dr Lingwei Weng or Dr Wenbin Sheng, Department of Pediatrics, Hangzhou Children's Hospital, 195 Wenhui Road, Hangzhou, Zhejiang 310014, P.R. China wenglingwei1980@ 123456126.com swb8825@ 123456163.com

                *Contributed equally

                Article
                Publisher ID: ETM-24-3-11534
                DOI: 10.3892/etm.2022.11534
                PMC ID: 9353500
                SO-VID: 50862d7a-cac5-4363-9fd6-c5d97f14b411
                Copyright © Copyright: © Zhang et al.
                License:

                This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

                History
                Date received : 17 May 2022
                Date accepted : 14 June 2022
                Funding
                Funding: The present study was funded by Grant from Natural Science Foundation of Zhejiang Province (grant nos. LQ20H040001 and LY20H130003) and Hangzhou Medical Health Science and Technology (grant no. 0020190868).
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Medicine
                Keywords: pseudohypoparathyroidism type 1a,hereditary multiple exostoses,guanine nucleotide-binding protein α stimulating
                Data availability:
                ScienceOpen disciplines: Medicine
                Keywords: pseudohypoparathyroidism type 1a, hereditary multiple exostoses, guanine nucleotide-binding protein α stimulating

                Comments

                Comment on this article