[Atypical clinical presentation of pseudohypoparathyroidism coexisting with autoimmune disorders].
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.
Klinika Chorób Wewnetrznychi i Farmakologii Klinicznej Katedry Farmakologii, Slaski Uniwersytet Medyczny, Katowice. r.krysiak@poczta.onet.pl
Robert
R
Krysiak
Dariusz
D
Kajdaniuk
Bogdan
B
Marek
Bogusław
B
Okopień
Janusz
J
Kapustecki
D000752:Anemia, Pernicious / Q000150:complications*; D001323:Autoantibodies / Q000097:blood; D006801:Humans; D008297:Male; D008875:Middle Aged; D011547:Pseudohypoparathyroidism / Q000150:complications* / Q000175:diagnosis; D013967:Thyroiditis, Autoimmune / Q000150:complications*
D001323:Autoantibodies