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

Context: The term pseudohypoparathyroidism (PHP) indicates a group of heterogeneous
disorders whose common feature is represented by impaired signaling of various hormones …

The GNAS complex locus encodes the alpha-subunit of the stimulatory G protein (Gsα), a
ubiquitous signaling protein mediating the actions of many hormones, neurotransmitters …

Most genes are expressed from both parental chromosomes; however, a small number of
genes in mammals are imprinted and expressed in a parent-of-origin specific manner …

Single nucleotide polymorphism (SNP)-based microarray analysis provides detection of
copy number variations (CNVs) as well as genotype information at multiple polymorphic loci …

Pseudohypoparathyroidism exemplifies an unusual form of hormone resistance as the
underlying molecular defect is a partial deficiency of the α subunit of the stimulatory G …

GNAS is a complex imprinted locus leading to several different gene products that show
exclusive monoallelic expression. GNAS also encodes the α-subunit of the stimulatory G …

Context: Pseudohypoparathyroidism type 1b (PHP1b) is the result of end-organ resistance
to PTH and other hormones such as TSH in the absence of any features of Albright's …

Abstract Purpose Type I pseudohypoparathyroidism (PHP-I) can be subclassified into Ia and
Ib, depending on the presence or absence of Albright's hereditary osteodystrophy's …

Pseudohypoparathyoridism type Ib (PHP-Ib) typically defines the presence of end-organ
resistance to parathyroid hormone in the absence of Albright's hereditary osteodystrophy …