Open AccessPseudohypoparathyroidism: genetic aspects
Author(s) -
О. А. Герасименко,
Л К Дзеранова,
L Ya Rozhinskaya
Publication year - 2009
Publication title -
problemy èndokrinologii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.124
H-Index - 5
eISSN - 2308-1430
pISSN - 0375-9660
DOI - 10.14341/probl200955330-33
Subject(s) - pseudohypoparathyroidism , context (archaeology) , medicine , genetic counseling , inheritance (genetic algorithm) , clinical practice , pediatrics , intensive care medicine , family medicine , genetics , biology , parathyroid hormone , paleontology , gene , calcium
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.