Open AccessNon-immune thyrotoxicosis caused by thyroid-stimulating hormone receptor activating gene mutation (the first description in Russia)
Author(s) -
V А Peterkova,
O. V. Vasyukova,
A. N. Tyulpakov
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/probl200955248-50
Subject(s) - transplacental , hormone , medicine , antibody , thyroid , mutation , endocrinology , immune system , gene , receptor , pregnancy , immunology , biology , fetus , genetics , placenta
Thyrotoxicosis of newborns, observed in less than 1% of pregnant women with Graves disease, is due to transplacental transfer of stimulating antibodies to the thyroid stimulating hormone receptor (rTSH). The clinical picture manifests itself in the first days of a child’s life, is transient in nature and, as a rule, ends with a full recovery as the maternal antibodies to rTSH disappear from the bloodstream of the newborn. However, in addition to the "classic" autoimmune thyrotoxicosis, cases of congenital and familial non-autoimmune thyrotoxicosis, which are caused by inherited activating mutations of the gene encoding rTSH - TSHR, have been described. This article presents its own observation.