Abstract This Consensus Statement covers recommendations for the diagnosis and
management of patients with pseudohypoparathyroidism (PHP) and related disorders …

Pseudohypoparathyroidism type 1a (PHP 1a) is characterized by hypocalcaemia and
hyperphosphatemia due to parathyroid hormone resistance, in association with the features …

Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are
caused by mutations and/or epigenetic changes at the complex GNAS locus on …

Context: The term pseudohypoparathyroidism (PHP) was coined to describe the clinical
condition resulting from end-organ resistance to parathormone (rPTH), caused by genetic …

GNAS is a complex locus characterized by multiple transcripts and an imprinting effect. It
orchestrates a variety of physiological processes via numerous signaling pathways. Human …

Maternally inherited inactivating GNAS mutations are the most common cause of parathyroid
hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO) leading to …

Abstract Pseudohypoparathyroidism type Ib (PHP1B) is caused by proximal tubular
resistance to parathyroid hormone that occurs in most cases in the absence of Albright's …

Background Pseudohypoparathyroidism type 1a (PHP1a) is a rare endocrine disease
caused by partial defects of the α subunit of the stimulatory Guanosin triphosphate (GTP) …

Objective Pseudohypoparathyroidism and related disorders belong to a group of
heterogeneous rare diseases that share an impaired signaling downstream of Gsα-protein …

Objective: To evaluate the clinical signs and symptoms that would help clinicians to consider
pseudohypoparathyroidism (PHP) type 1A as a diagnosis in a child. Methods: A …