Journal
ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA
Volume 47, Issue 4, Pages 865-+Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.ecl.2018.07.011
Keywords
GNAS; Pseudohypoparathyroidism; PTH resistance; Subcutaneous ossifications; Brachydactyly; Early-onset obesity; Acrodysostosis
Categories
Funding
- NIDDK NIH HHS [R01 DK112955, R01 DK079970] Funding Source: Medline
Ask authors/readers for more resources
Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of uncommon, yet related metabolic disorders that are characterized by impaired activation of the Gs alpha/cAMP/PKA signaling pathway by parathyroid hormone (PTH) and other hormones that interact with Gsa-coupled receptors. Proximal renal tubular resistance to PTH and thus hypocalcemia and hyperphosphatemia, frequently in presence of brachydactyly, ectopic ossification, early-onset obesity, or short stature are common features of PHP. Registries and large cohorts of patients are needed to conduct
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available
Share Paper
