Pseudohypoparathyroidism other diagnostic studies

Jump to navigation Jump to search

Pseudohypoparathyroidism Microchapters


Patient Information


Historical Perspective




Differentiating Pseudohypoparathyroidism from other Diseases

Epidemiology and Demographics

Risk Factors


Natural History, Complications and Prognosis


Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings


X Ray



Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies


Medical Therapy


Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Pseudohypoparathyroidism other diagnostic studies On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides


American Roentgen Ray Society Images of Pseudohypoparathyroidism other diagnostic studies

All Images
Echo & Ultrasound
CT Images

Ongoing Trials at Clinical

US National Guidelines Clearinghouse

NICE Guidance

FDA on Pseudohypoparathyroidism other diagnostic studies

CDC on Pseudohypoparathyroidism other diagnostic studies

Pseudohypoparathyroidism other diagnostic studies in the news

Blogs on Pseudohypoparathyroidism other diagnostic studies

Directions to Hospitals Treating Pseudohypoparathyroidism

Risk calculators and risk factors for Pseudohypoparathyroidism other diagnostic studies

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]


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)


  1. 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.
  2. 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.

Template:WikiDoc Sources