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About 503 results

ALLMedicine™ Pseudohypoparathyroidism Center

Research & Reviews  185 results

Lack of GNAS re-methylation during oogenesis may be a cause of sporadic pseudohypoparat...
https://doi.org/10.1210/clinem/dgab830
The Journal of Clinical Endocrinology and Metabolism; Milioto A, Reyes M et. al.

Nov 19th, 2021 - Pseudohypoparathyroidism type Ib (PHP1B) is characterized by hypocalcemia and hyperphosphatemia due to PTH-resistance in the proximal renal tubules. Maternal pathogenic STX16/GNAS variants leading to maternal epigenetic GNAS changes impair express...

Sporadic Pseudohypoparathyroidism Type 1B in Monozygotic Twins: Insights into the Patho...
https://doi.org/10.1210/clinem/dgab801
The Journal of Clinical Endocrinology and Metabolism; Keidai Y, Iwasaki Y et. al.

Nov 7th, 2021 - Sporadic pseudohypoparathyroidism type 1B (sporPHP1B) is an imprinting disease without a defined genetic cause, characterized by broad methylation changes in differentially methylated regions (DMRs) of the GNAS gene. This work aims to provide insi...

Hypoparathyroidism and pseudohypoparathyroidism in pregnancy: an Italian retrospective ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8501695
Orphanet Journal of Rare Diseases; Marcucci G, Altieri P et. al.

Oct 11th, 2021 - Hypoparathyroidism (HypoPT) or pseudo-hypoparathyroidism (pseudo-HypoPT) during pregnancy may cause maternal and fetal/neonatal complications. In this regard, only a few case reports or case series of pregnant or lactating women have been publishe...

Obesity-Associated GNAS Mutations and the Melanocortin Pathway.
https://doi.org/10.1056/NEJMoa2103329
The New England Journal of Medicine; Mendes de Oliveira E, Keogh JM et. al.

Oct 7th, 2021 - GNAS encodes the Gαs (stimulatory G-protein alpha subunit) protein, which mediates G protein-coupled receptor (GPCR) signaling. GNAS mutations cause developmental delay, short stature, and skeletal abnormalities in a syndrome called Albright's her...

Theophylline Treatment for Pseudohypoparathyroidism - Children 2-12 Years Old
https://clinicaltrials.gov/ct2/show/NCT04551170

Sep 28th, 2021 - Pseudohypoparathyroidism (PHP) is a rare, genetic disorder caused by impaired stimulatory G protein (Gsα) signaling through downregulation of the gene, GNAS. The resultant hormone abnormalities can be treated with hormone replacement therapy, but ...

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Drugs  8 results see all →

Clinicaltrials.gov  6 results

Theophylline Treatment for Pseudohypoparathyroidism - Children 2-12 Years Old
https://clinicaltrials.gov/ct2/show/NCT04551170

Sep 28th, 2021 - Pseudohypoparathyroidism (PHP) is a rare, genetic disorder caused by impaired stimulatory G protein (Gsα) signaling through downregulation of the gene, GNAS. The resultant hormone abnormalities can be treated with hormone replacement therapy, but ...

Glucose Homeostasis in Pseudohypoparathyroidism
https://clinicaltrials.gov/ct2/show/NCT03761290

May 27th, 2021 - Pseudohypoparathyroidism type 1A (PHP1A) is a rare, genetic disorder caused by impaired stimulatory G-protein signaling due to heterozygous mutations in the gene, GNAS. The most severe form of the disease, PHP1A occurs when a GNAS mutation is inhe...

Effect of Theophylline in Pseudohypoparathyroidism
https://clinicaltrials.gov/ct2/show/NCT03718403

Oct 24th, 2018 - It is an open label intervention study for the off-label use of theophylline in psuedohypoparathyroidism (PHP).Theophylline is a is non-specific phosphodiesterase inhibitor which increases the levels of secondary messenger,cAMP. PHP patients have ...

Energy Expenditure and Body Composition in Pseudohypoparathyroidism 1a
https://clinicaltrials.gov/ct2/show/NCT01398774

Aug 22nd, 2018 - Pseudohypoparathyroidism 1a (PHP1a) is a disorder that is associated with many endocrine problems. People with PHP1a are at risk for the development of obesity. The objective of the study will help determine if obesity is related to abnormalities ...

Theophylline as a Treatment for Children With Pseudohypoparathyroidism Type 1a (Albright Hereditary Osteodystrophy)
https://clinicaltrials.gov/ct2/show/NCT02463409

Jun 26th, 2017 - Study measures will be done at baseline and during a 24h infusion of IV theophylline. Theophylline levels will be drawn to ensure therapeutic dosing and to monitor for toxicity. Measures include laboratory values, response to PTH infusion and rest...

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News  2 results

'Unbiased' Genetic Screening Turns Up Cause of Kids' Obesity
https://www.medpagetoday.com/endocrinology/growthdisorders/94889

Oct 6th, 2021 - GNAS mutations in kids with severe obesity may go undetected, researchers suggested. In a study of 2,548 children with severe obesity in whom genetic causes of obesity were not suspected, a total of 22 were found to have heterozygous GNAS mutation...

A 49-Year-Old Man With Pain at the Site of a Previous Fracture
https://reference.medscape.com/viewarticle/857143_5

Jan 14th, 2016 - On initial presentation, exclusion of other diseases that result in a similar "bright bone" appearance on radiography is important. The causes of diffuse osteosclerosis include hypervitaminosis D, hypoparathyroidism, myelofibrosis, Paget disease, ...

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