Pseudohypoparathyroidism other diagnostic studies
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]
Overview
Other diagnostic studies include genetic testing, platelet aggregation testing for Gsα defects and bone densitometry testing.
Other Diagnostic Studies
- Genetic testing may be helpful in the diagnosis of pseudohypoparathyroidism[1][2]
- Analysis of the GNAS1 gene can confirm diagnosis and identify the different variants of PHP
- Testing for paternal uniparental isodisomy of chromosome 20q or deletions in STX16 can also help in diagnosis of pseudohypoparathyroidism 1b
- Gsα defects can be diagnosed by assessment of variations in platelet aggregation responses reflecting a patient’s genotype
- Pseudohypoparathyroidism type 1b associated bone disease can be evaluated with bone mineral density (BMD)
References
- ↑ Clarke BL, Brown EM, Collins MT, Jüppner H, Lakatos P, Levine MA, Mannstadt MM, Bilezikian JP, Romanischen AF, Thakker RV (2016). “Epidemiology and Diagnosis of Hypoparathyroidism”. J. Clin. Endocrinol. Metab. 101 (6): 2284–99. doi:10.1210/jc.2015-3908. PMC 5393595. PMID 26943720.
- ↑ Freson K, Izzi B, Labarque V, Van Helvoirt M, Thys C, Wittevrongel C, Bex M, Bouillon R, Godefroid N, Proesmans W, de Zegher F, Jaeken J, Van Geet C (2008). “GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets”. J. Clin. Endocrinol. Metab. 93 (12): 4851–9. doi:10.1210/jc.2008-0883. PMID 18812479.
© 2026 MyEClinic – IFTM Institut für Telematik in der Medizin GmbH