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Clinical Calcium Aug 2007Pseudophypoparathyroidism (PHP) is characterized by hypocalcemia, hyperphosphatemia and elevated levels of parathyroid hormone (PTH) due to resistance to PTH. PHP type I... (Review)
Review
Pseudophypoparathyroidism (PHP) is characterized by hypocalcemia, hyperphosphatemia and elevated levels of parathyroid hormone (PTH) due to resistance to PTH. PHP type I a is caused by heterozygous inactivating mutation of the GNAS1 gene, which encodes signal transducer, Gsalpha. PHP type I a is associated with Albright's osteodystrophy (AHO). Those patients who have AHO phenotype without hormone resistance are affected by pseudopseudohypoparathyroidism.
Topics: Calcitriol; Chromogranins; Fibrous Dysplasia, Polyostotic; GTP-Binding Protein alpha Subunits, Gs; Humans; Hydroxycholecalciferols; Mutation; Pseudohypoparathyroidism; Pseudopseudohypoparathyroidism; Signal Transduction
PubMed: 17660618
DOI: No ID Found -
Journal of Bone and Mineral Research :... Jun 1999
Topics: Humans; Hyperparathyroidism; Pseudohypoparathyroidism
PubMed: 10352113
DOI: 10.1359/jbmr.1999.14.6.1016 -
Annales D'endocrinologie May 2015
Review
Topics: Chromogranins; Epigenomics; GTP-Binding Protein alpha Subunits, Gs; Humans; Pseudohypoparathyroidism
PubMed: 25882888
DOI: 10.1016/j.ando.2015.03.011 -
Lancet (London, England) Mar 2015
Topics: Adult; Chromogranins; GTP-Binding Protein alpha Subunits, Gs; Hand Bones; Humans; Male; Pseudohypoparathyroidism; Pseudopseudohypoparathyroidism; Radiography
PubMed: 25484027
DOI: 10.1016/S0140-6736(14)61640-8 -
Italian Journal of Pediatrics Mar 2021Pseudohypoparathyroidism (PHP) represents a heterogeneous group of rare endocrine disorders caused by (epi) genetic abnormalities affecting the GNAS locus. It is mainly...
BACKGROUND
Pseudohypoparathyroidism (PHP) represents a heterogeneous group of rare endocrine disorders caused by (epi) genetic abnormalities affecting the GNAS locus. It is mainly characterized by resistance to PTH and TSH, and by peculiar clinical features such as short stature, obesity, cognitive impairment, subcutaneous ossifications and brachydactyly. Delayed puberty, GHRH and calcitonin resistances have also been described. The healthcare-pathway recently proposed by the Italian Society of Pediatric Endocrinology and Diabetology (ISPED) has provided a standardized clinical approach to these conditions. The purpose of the present study was to evaluate its application in clinical practice, and to collect data for setting future specific studies.
METHODS
Through a semi-structured survey, based on the indications of the care-pathway, data on PHP clinical management were collected. The compilation of each data in the survey was read as an index of the adoption of the healthcare-pathway in clinical practice.
RESULTS
In addition to the proposing Center, 4 Centers joined the study, thus obtaining a large collection of data on 48 PHP patients. Highest rates in the completion of data were obtained for diagnostic history, auxological measurements and subcutaneous ossifications evaluation. As expected, the availability of data for the other investigated fields was lower, coming from recent research studies. More information has been obtained on hormonal resistance classically involved in PHP (PTH, TSH, GHRH and GnRH) and on cognitive impairment, while a few data has been collected on bone mineral status, calcitonin levels and glucolipid metabolism.
CONCLUSIONS
The presented data show that the ISPED healthcare-pathway could represent a valid tool both to confirm the clinical approach to PHP patients and to allow homogeneous data collection; however, it has not yet been fully adopted. The strengthening of the network among the major Italian Endocrine Centers will contribute to improve its application in clinical practice, optimizing the follow-up of these patients and increasing knowledge on PHP.
Topics: Child; Consensus; Critical Pathways; Female; Follow-Up Studies; Humans; Italy; Male; Practice Patterns, Physicians'; Pseudohypoparathyroidism; Surveys and Questionnaires
PubMed: 33663571
DOI: 10.1186/s13052-021-01000-z -
Zhonghua Er Ke Za Zhi = Chinese Journal... Mar 2021To analyze the patients' clinical and genetic characteristics with pseudohypoparathyroidism (PHP) and investigate the correlation between clinical phenotypes and...
To analyze the patients' clinical and genetic characteristics with pseudohypoparathyroidism (PHP) and investigate the correlation between clinical phenotypes and genotypes. Twenty PHP patients were ascertained at Children's Hospital Zhejiang University School of Medicine from January 2011 to July 2020. Clinical manifestation, laboratory examination and gene test results were retrospectively analyzed. In these twenty patients, eighteen cases showed resistance to parathyroid hormone (PTH) and thirteen cases had Albright's hereditary osteodystrophy (AHO) phenotype. Gene abnormalities were found in all the twenty PHP patients, which included seven patients with GNAS gene variations (six frameshifts and one missense) and thirteen patients with GNAS gene methylation defects. Moreover, twelve children with both PTH resistance and AHO phenotype were clinically diagnosed as PHP-Ⅰa, meanwhile, seven carried GNAS variations and five had methylation abnormalities with a correct diagnosis of PHP-Ⅰb. Patients with AHO phenotype and PTH resistance may have a high genetic diagnosis rate. Because PHP-Ⅰb clinical phenotype may be similar to PHP-Ⅰa, early genetic detection is required for the differential diagnosis. In addition, children without PTH resistance should also be followed up regularly, which may help the early diagnosis.
Topics: Child; Chromogranins; GTP-Binding Protein alpha Subunits, Gs; Humans; Phenotype; Pseudohypoparathyroidism; Retrospective Studies
PubMed: 33657695
DOI: 10.3760/cma.j.cn112140-20201110-01018 -
Reviews in Endocrine & Metabolic... Nov 2000
Review
Topics: Animals; Humans; Parathyroid Hormone; Pseudohypoparathyroidism; Pseudopseudohypoparathyroidism
PubMed: 11706740
DOI: 10.1023/a:1026510200264 -
Nihon Rinsho. Japanese Journal of... Sep 1981
Topics: Female; Humans; Male; Pseudohypoparathyroidism
PubMed: 7339034
DOI: No ID Found -
Nihon Rinsho. Japanese Journal of... 1977
Topics: Female; Humans; Male; Pseudohypoparathyroidism
PubMed: 612759
DOI: No ID Found -
Tanpakushitsu Kakusan Koso. Protein,... Apr 1988
Topics: Cyclic AMP; GTP-Binding Proteins; Humans; Pseudohypoparathyroidism
PubMed: 2855957
DOI: No ID Found