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Pseudohypoparathyroidism
Agnès Linglart1, Michael A Levine2, Harald Jüppner3
1INSERM-U1185, Paris Sud Paris-Saclay University, Bicêtre Paris Sud Hospital, 64 Gabriel Péri Street, 94270 Le Kremlin Bicêtre, France; APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Network OSCAR and 'Platform of Expertise Paris Sud for Rare Diseases, Bicêtre Paris Sud Hospital, 64 Gabriel Péri Street, 94270 Le Kremlin Bicêtre, France; APHP, Endocrinology and Diabetes for Children, Bicêtre Paris Sud Hospital, 64 Gabriel Péri Street, 94270 Le Kremlin Bicêtre, France.
Abstract:
Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of uncommon, yet related metabolic disorders that are characterized by impaired activation of the Gsα/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 clinical and genetic research, to improve the still limited knowledge regarding the underlying disease mechanisms, and allow the development of novel therapies.