ALLMedicine™ Pseudohypoparathyroidism Center

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 ...

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...

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...

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...

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 ...

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...

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...

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 ...

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 ...

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...

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, ...