open access

Vol 58, No 4 (2007)
Case report
Published online: 2007-05-17
Submitted: 2013-02-15
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Atypical clinical presentation of pseudohypoparathyroidism coexisting with autoimmune disorders

Robert Krysiak, Dariusz Kajdaniuk, Bogdan Marek, Bogusław Okopień, Janusz Kapustecki
Endokrynologia Polska 2007;58(4):344-349.

open access

Vol 58, No 4 (2007)
Case report
Published online: 2007-05-17
Submitted: 2013-02-15

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)

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)
Get Citation

Keywords

pseudohypoparathyroidism; autoimmune disorders; resistance to parathyroid hormone

About this article
Title

Atypical clinical presentation of pseudohypoparathyroidism coexisting with autoimmune disorders

Journal

Endokrynologia Polska

Issue

Vol 58, No 4 (2007)

Pages

344-349

Published online

2007-05-17

Bibliographic record

Endokrynologia Polska 2007;58(4):344-349.

Keywords

pseudohypoparathyroidism
autoimmune disorders
resistance to parathyroid hormone

Authors

Robert Krysiak
Dariusz Kajdaniuk
Bogdan Marek
Bogusław Okopień
Janusz Kapustecki

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