Literature DB >> 16789631

Multihormonal resistance to parathyroid hormone, thyroid stimulating hormone, and other hormonal and neurosensory stimuli in patients with pseudohypoparathyroidism.

Jean-Louis Wémeau1, Anne-Sophie Balavoine, Miriam Ladsous, Fritz-Line Velayoudom-Cephise, Virginie Vlaeminck-Guillem.   

Abstract

In patients with pseudohypoparathyroidism, hormonal resistance first affects parathyroid hormone (PTH), which leads to calcipenia, a decrease in renal vitamin D activation, and a tendency to bone receptor remodeling. However, because G proteins are ubiquitously distributed, multiple hormonal resistance occurs in pseudohypoparathyroidism type Ia and type Ic, impairing responses to other calciotropic hormones (PTHrP, calcitonin), TSH, and also pituitary and hypothalamic hormones, and to neurosensory stimuli. The diversity of multihormonal resistance contributes to the various phenotypes of the disease. Some clinical discomfort and medical consequences of the disease can be treated or prevented with hormone supplementation or modulation.

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Year:  2006        PMID: 16789631     DOI: 10.1515/jpem.2006.19.s2.653

Source DB:  PubMed          Journal:  J Pediatr Endocrinol Metab        ISSN: 0334-018X            Impact factor:   1.634


  4 in total

Review 1.  Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.

Authors:  Giovanna Mantovani; Anna Spada; Francesca Marta Elli
Journal:  Nat Rev Endocrinol       Date:  2016-04-22       Impact factor: 43.330

2.  Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B.

Authors:  Eduardo Fernandez-Rebollo; Beatriz García-Cuartero; Intza Garin; Cristina Largo; Francisco Martínez; Concepcion Garcia-Lacalle; Luis Castaño; Murat Bastepe; Guiomar Pérez de Nanclares
Journal:  J Clin Endocrinol Metab       Date:  2009-12-11       Impact factor: 5.958

3.  Long-term follow-up of a pseudohypoparathyroidism type 1A patient with missense mutation (Pro115Ser) in exon 5.

Authors:  Şenay Savaş Erdeve; Merih Berberoğlu; Zeynep Şıklar; Olcay Evliyaoğlu; Olaf Hiort; Gönül Öcal
Journal:  J Clin Res Pediatr Endocrinol       Date:  2010-05-07

4.  GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report.

Authors:  Yajie Tong; Dongmei Yue; Ying Xin; Dan Zhang
Journal:  BMC Pediatr       Date:  2022-08-04       Impact factor: 2.567

  4 in total

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