FAMILIAL NON-AUTOIMMUNE HYPERTHYROIDISM
IN FAMILY MEMBERS ACROSS FOUR GENERATIONS
DUE TO A NOVEL DISEASE-CAUSING VARIANT IN
THE THYROTROPIN RECEPTOR GENE Malej A, Avbelj Stefanija M, Bratanič N, Trebušak Podkrajšek K, *Corresponding Author: Associate Professor Katarina Trebušak Podkrajšek, Ph.D., Institute of Biochemistry
and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Slovenia. Tel: +386-
1-543-7669. Fax: +386-1-543-7641. E-mail: katarina.trebusakpodkrajsek@mf.uni-lj.si page: 87 download article in pdf format
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Abstract
Activating disease-causing variants in the thyrotropin-
receptor (TSHR) gene are associated with familial or
sporadic congenital non-autoimmune hyperthyroidism.
Familial non-autoimmune hyperthyroidism (FNAH) is a
rare form of hyperthyroidism with 41 families reported so
far in the TSHR gene mutation database. We present clinical
and genetic features of 11 patients with FNAH across
four generations of a Slovenian family. They all developed
clinical features of hyperthyroidism but did not show
characteristics of autoimmune hyperthyroidism. Members
of the initially diagnosed generation were diagnosed as
hyperthyrotic after they developed cardiac complications
(rhythm disorders, thromboembolic events, cardiac insufficiency),
while patients in the younger generations were
diagnosed earlier, and consequently, early cardiovascular
complications were less frequent. All patients had a novel
heterozygous TSHR variant NP_ 000360.2: p.Met453Val
(NM_000369.2: c.1357A>G) predicted to be pathogenic.
Therefore, besides expending the mutational spectrum of
the activating TSHR variants in FNAH, our experience
with this multi-generation family confirms the need for
early diagnosis and appropriate treatment of FNAH.
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