Open AccessMultiple hormonal resistance and metabolic disorders in pseudogypoparatiosis
Author(s) -
Larisa Dzeranova,
Nadezhda Makazan,
Ekaterina Pigarova,
An Tiuliakova,
Ekaterina V. Artemova,
Tatiana V Soldatova,
Denis O. Tulupov,
Alexander V. Vorontsov,
G. A. Melnichenko
Publication year - 2018
Publication title -
ožirenie i metabolizm
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.154
H-Index - 5
eISSN - 2306-5524
pISSN - 2071-8713
DOI - 10.14341/omet2018251-55
Subject(s) - pseudohypoparathyroidism , gnas complex locus , endocrinology , medicine , osteodystrophy , hormone , parathyroid hormone , hypoparathyroidism , biology , calcium , gene , genetics
Pseudohypoparathyroidism is a rare group of clinically and genetically heterogeneous diseases caused by the inactivation of the PTH-signaling pathway. The main component of the disease is resistance to PTH, causing a disturbance of calcium-phosphorus metabolism. With pseudohypoparathyroidism, there may also be a development of insensitivity to thyrotropic and gonadotropic hormones of the pituitary gland and the formation of characteristic clinical features in the form of subcutaneous calcifications, brachidactyly, obesity, stuntedness, mental retardation. This article describes the clinical case of pseudohypoparathyroidism in a 35-year-old woman with classic phenotypic hypoparathyroidism with hereditary Albright osteodystrophy and a proven mutation in the GNAS gene, and discusses the spectrum of metabolic disorders of the disease.