Pseudohypoparathyroidism Differential Diagnoses

  • Author: Mini R Abraham, MD; Chief Editor: George T Griffing, MD   more...
 
Updated: Dec 13, 2011
 
 

Diagnostic Considerations

There have been case reports of vitamin D deficiency mimicking pseudohypoparathyroidism (PHP). The clinical presentation and biochemical features of stage 1 vitamin D deficiency rickets (VDR) and PHP type 2 are quite similar.

In a 2005 report, Mahmud et al describe 2 sisters who were initially identified as having paroxysmal dyskinesia, but who, on subsequent testing, showed hypocalcemia, hyperphosphatemia, and elevated PTH levels consistent with PHP type 1b.[12]

Other conditions to consider in the differential diagnosis of PHP include secondary hyperparathyroidism and autoimmune polyglandular syndromes. Some forms of PHP may remain unnoticed or undiagnosed if patients do not have hypocalcemia and/or features of Albright hereditary osteodystrophy (AHO).

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Contributor Information and Disclosures
Author

Mini R Abraham, MD  Consulting Staff, Overland Park Medical Specialists

Mini R Abraham, MD is a member of the following medical societies: American Association of Clinical Endocrinologists and Endocrine Society

Disclosure: Nothing to disclose.

Coauthor(s)

Romesh Khardori, MD, PhD, FACP  Professor of Endocrinology, Director of Training Program, Division of Endocrinology, Diabetes and Metabolism, Strelitz Diabetes and Endocrine Disorders Institute, Department of Internal Medicine, Eastern Virginia Medical School

Romesh Khardori, MD, PhD, FACP is a member of the following medical societies: American Association of Clinical Endocrinologists, American College of Physicians, American Diabetes Association, and Endocrine Society

Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD  Professor of Medicine, St Louis University School of Medicine

George T Griffing, MD is a member of the following medical societies: American Association for the Advancement of Science, American College of Medical Practice Executives, American College of Physician Executives, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical Research, Endocrine Society, International Society for Clinical Densitometry, and Southern Society for Clinical Investigation

Disclosure: Nothing to disclose.

Additional Contributors

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Stanley Wallach, MD Executive Director, American College of Nutrition; Clinical Professor, Department of Medicine, New York University School of Medicine

Stanley Wallach, MD is a member of the following medical societies: American College of Nutrition, American Society for Bone and Mineral Research, American Society for Clinical Investigation, American Society for Clinical Nutrition, American Society for Nutritional Sciences, Association of American Physicians, and Endocrine Society

Disclosure: Nothing to disclose.

Kent Wehmeier, MD Professor, Department of Internal Medicine, Division of Endocrinology, Diabetes, and Metabolism, St Louis University School of Medicine

Kent Wehmeier, MD is a member of the following medical societies: American Society of Hypertension, Endocrine Society, and International Society for Clinical Densitometry

Disclosure: Nothing to disclose.

References

  1. Bastepe M. The GNAS locus and pseudohypoparathyroidism. Adv Exp Med Biol. 2008;626:27-40. [Medline].

  2. Nakamura Y, Matsumoto T, Tamakoshi A, et al. Prevalence of idiopathic hypoparathyroidism and pseudohypoparathyroidism in Japan. J Epidemiol. Jan 2000;10(1):29-33. [Medline].

  3. Sanchez J, Perera E, Jan de Beur S, et al. Madelung-like deformity in pseudohypoparathyroidism type 1b. J Clin Endocrinol Metab. Sep 2011;96(9):E1507-11. [Medline]. [Full Text].

  4. Davies SJ, Hughes HE. Imprinting in Albright's hereditary osteodystrophy. J Med Genet. Feb 1993;30(2):101-3. [Medline].

  5. Juppner H, Schipani E, Bastepe M, et al. The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. Proc Natl Acad Sci U S A. Sep 29 1998;95(20):11798-803. [Medline].

  6. Wu WI, Schwindinger WF, Aparicio LF, Levine MA. Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib. J Biol Chem. Jan 5 2001;276(1):165-71. [Medline].

  7. Bliek J, Verde G, Callaway J, et al. Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Hum Genet. May 2009;17(5):611-9. [Medline].

  8. Long DN, McGuire S, Levine MA, et al. Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity. J Clin Endocrinol Metab. Mar 2007;92(3):1073-9. [Medline]. [Full Text].

  9. Shalitin S, Davidovits M, Lazar L, et al. Clinical heterogeneity of pseudohypoparathyroidism: from hyper- to hypocalcemia. Horm Res. 2008;70(3):137-44. [Medline].

  10. Balavoine AS, Ladsous M, Velayoudom FL, et al. Hypothyroidism in patients with pseudohypoparathyroidism type Ia: clinical evidence of resistance to TSH and TRH. Eur J Endocrinol. Oct 2008;159(4):431-7. [Medline].

  11. Mantovani G, Bondioni S, Linglart A, Maghnie M, Cisternino M, Corbetta S. Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type ib. J Clin Endocrinol Metab. Sep 2007;92(9):3738-42. [Medline].

  12. Mahmud FH, Linglart A, Bastepe M, et al. Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia. Pediatrics. Feb 2005;115(2):e242-4. [Medline].

  13. Freson K, Izzi B, Labarque V, et al. GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets. J Clin Endocrinol Metab. Dec 2008;93(12):4851-9. [Medline].

  14. Weinhaeusel A, Thiele S, Hofner M, et al. PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib. Clin Chem. Sep 2008;54(9):1537-45. [Medline].

 
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Patient with pseudohypoparathyroidism showing shortened fourth metacarpals.
 
 
 
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