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Pseudohypoparathyroidism: genetic aspects

https://doi.org/10.14341/probl200955330-33

Abstract

The review of literature details the issues of genetics, the specific features of inheritance, the clinical picture and treatment of pseudohypoparathyroidisms (PHPT). In practice, clinicians more frequently deal with type 1 PHPT and the diagnosis of this type creates no significant problems. However, despite the low prevalence of the other types of PHPT - 1b, 1c, and 2, the diseases may run with noticeably clinical symptoms and present a significant problem in the context of diagnosis and treatment. This review may be of concern to both clinicians and geneticists who are interested in this problem.

About the Authors

O. A. Gerasimenko

Endocrinology Research Centre


Russian Federation


L K Dzeranova

Endocrinology Research Centre


Russian Federation


L Ya Rozhinskaya

Endocrinology Research Centre


Russian Federation


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Review

For citations:


Gerasimenko O.A., Dzeranova L.K., Rozhinskaya L.Ya. Pseudohypoparathyroidism: genetic aspects. Problems of Endocrinology. 2009;55(3):30-33. (In Russ.) https://doi.org/10.14341/probl200955330-33

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