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About 635 results

ALLMedicine™ Pseudohypoparathyroidism Center

Research & Reviews  226 results

GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report.
https://doi.org/10.1186/s12887-022-03517-6
BMC Pediatrics; Tong Y, Yue D et. al.

Aug 5th, 2022 - Primary adrenal insufficiency in children has non-specific and extensive clinical features, so the diagnosis of its etiology is complex and challenging. Although congenital adrenal hyperplasia is the most common cause, more and more other genetic ...

Studies of Inherited Diseases of Metabolism
https://clinicaltrials.gov/ct2/show/NCT00001345

Aug 1st, 2022 - Familial multiple endocrine neoplasia type 1 (MEN1), familial hypocalciuric (or familial benign) hypercalcemia (FHH), hyperparathyroidism - jaw tumor syndrome (HPT-JT), other causes of familial isolated hyperparathyroidism (FIHP), and pseudohypopa...

Studies of States With Resistance to Vitamin D and Parathyroid Hormone
https://clinicaltrials.gov/ct2/show/NCT00001242

Jul 25th, 2022 - Patients with confirmed or suspected states with resistance to vitamin D or parathyroid hormone (PTH) will be admitted for diagnosis, treatment review with suggestions for modifications to the current or new treatment and for inclusion in other pr...

Familial pseudohypoparathyroidism type 1B caused by an SVA retrotransposon insertion on...
https://doi.org/10.1002/jbmr.4652
Journal of Bone and Mineral Research : the Official Journ... Kawashima S, Yuno A et. al.

Jul 22nd, 2022 - Loss of methylation (LOM) at GNAS-A/B:TSS-differentially methylated regions (DMRs) in the GNAS locus is observed in pseudohypoparathyroidism type 1B (PHP1B). Many PHP1B cases are sporadic, but autosomal dominant-PHP1B has a deletion involving NESP...

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

Jul 22nd, 2022 - 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 ...

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Drugs  11 results see all →

Clinicaltrials.gov  16 results

Studies of Inherited Diseases of Metabolism
https://clinicaltrials.gov/ct2/show/NCT00001345

Aug 1st, 2022 - Familial multiple endocrine neoplasia type 1 (MEN1), familial hypocalciuric (or familial benign) hypercalcemia (FHH), hyperparathyroidism - jaw tumor syndrome (HPT-JT), other causes of familial isolated hyperparathyroidism (FIHP), and pseudohypopa...

Studies of States With Resistance to Vitamin D and Parathyroid Hormone
https://clinicaltrials.gov/ct2/show/NCT00001242

Jul 25th, 2022 - Patients with confirmed or suspected states with resistance to vitamin D or parathyroid hormone (PTH) will be admitted for diagnosis, treatment review with suggestions for modifications to the current or new treatment and for inclusion in other pr...

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

Jul 22nd, 2022 - 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 ...

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 ...

Theophylline for Treatment of Pseudohypoparathyroidism
https://clinicaltrials.gov/ct2/show/NCT04240821

Aug 20th, 2021 - Trial Objectives The primary objective of this study is to evaluate the long-term safety of theophylline in patients with PHP. The secondary objectives of this study are to evaluate changes in BMI, hormone resistance and epiphyseal closure associa...

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News  1 results

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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