Non-immune thyrotoxicosis caused by thyroid-stimulating hormone receptor activating gene mutation (the first description in Russia)
https://doi.org/10.14341/probl200955248-50
Abstract
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.
About the Authors
V A PeterkovaEndocrinology Reseacrh Centre
Russian Federation
O V Vasyukova
Endocrinology Reseacrh Centre
Russian Federation
A N Tyul'pakov
Endocrinology Reseacrh Centre
Russian Federation
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For citations:
Peterkova V.A., Vasyukova O.V., Tyul'pakov A.N. Non-immune thyrotoxicosis caused by thyroid-stimulating hormone receptor activating gene mutation (the first description in Russia). Problems of Endocrinology. 2009;55(2):48-50. (In Russ.) https://doi.org/10.14341/probl200955248-50
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