[Atypical clinical presentation of pseudohypoparathyroidism coexisting with autoimmune disorders].

Abstract

Pseudohypoparathyroidism includes a genotypically diverse group of syndromes that resembles primary hypoparathyroidism but is caused by primary resistance to parathormone. Several variants of pseudohypoparathyroidism have been identified, and pseudohypoparathyroidism type 1a is the best understood form of the disease. In many but not all patients, the disease results from heterozygous inactivating mutations of Gs a, the alpha-subunit of the heterotrimeric stimulatory G-protein. In this article, we describe the case of a 51-year-old male with clinical picture of atypical pseudohypoparathyroidism. The coexistence of this disorder with chronic thyroiditis and pernicious anemia suggested that autoimmune processes were involved in the mechanism of resistance to parathormone in this patient.

• Authors: Robert Krysiak, Dariusz Kajdaniuk, Bogdan Marek, Bogusław Okopień, Janusz Kapustecki
• Journal: Endokrynologia Polska (Endokrynol Pol) 2007 Jul-Aug Vol. 58 Issue 4 Pg. 344-7 ISSN: 0423-104X [Print] Poland
• Vernacular Title: Nietypowy obraz kliniczny rzekomej niedoczynności przytarczyc współistniejacej z chorobami autoimmunologicznymi.
• PMID: 18058726 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Autoantibodies

Topics

• Anemia, Pernicious (complications)
• Autoantibodies (blood)
• Humans
• Male
• Middle Aged
• Pseudohypoparathyroidism (complications, diagnosis)
• Thyroiditis, Autoimmune (complications)