Journal
CURRENT OPINION IN PEDIATRICS
Volume 31, Issue 4, Pages 537-549Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MOP.0000000000000783
Keywords
Albright hereditary osteodystrophy; GNAS; pseudohypoparathyroidism; pseudopseudohypoparathyroidism
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Funding
- U.S. Food and Drug Administration Office of Orphan Products Development [R01 FD-R-002568, R01 FD-R-003409]
- National Institutes of Health [R21 HD078864]
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT [R21HD078864] Funding Source: NIH RePORTER
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Purpose of review This review is timely given the 2018 publication of the first international Consensus Statement for the diagnosis and management of pseudohypoparathyroidism (PHP) and related disorders. The purpose of this review is to provide the knowledge needed to recognize and manage PHP1A, pseudopseudohypoparathyroidism (PPHP) and PHP1B - the most common of the subtypes - with an overview of the entire spectrum and to provide a concise summary of management for clinical use. This review will draw from recent literature as well as personal experience in evaluating hundreds of children and adults with PHP. Recent findings Progress is continually being made in understanding the mechanisms underlying the PHP spectrum. Every year, through clinical and laboratory studies, the phenotypes are elucidated in more detail, as are clinical issues such as short stature, brachydactyly, subcutaneous ossifications, cognitive/behavioural impairments, obesity and metabolic disturbances. Headed by a European PHP consortium, experts worldwide published the first international Consensus that provides detailed guidance in a systematic manner and will lead to exponential progress in understanding and managing these disorders. Summary As more knowledge is gained from clinical and laboratory investigations, the mechanisms underlying the abnormalities associated with PHP are being uncovered as are improvements in management.
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