Atypical clinical presentation of pseudohypoparathyroidism coexisting with autoimmune disorders

Robert Krysiak; Dariusz Kajdaniuk; Bogdan Marek; Bogusław Okopień; Janusz Kapustecki

Vol 58, No 4 (2007)

Case report

Submitted: 2013-02-15

Published online: 2007-05-17

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Atypical clinical presentation of pseudohypoparathyroidism coexisting with autoimmune disorders

Robert Krysiak, Dariusz Kajdaniuk, Bogdan Marek, Bogusław Okopień, Janusz Kapustecki

Endokrynol Pol 2007;58(4):344-349.

Vol 58, No 4 (2007)

Case report

Submitted: 2013-02-15

Published online: 2007-05-17

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 a-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.
(Pol J Endocrinol 2007; 58 (4): 344-347)