Balkan Journal of Medical Genetics

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

INTRODUCTION

Thyrotropin receptor (TSHR) is a G-protein coupled receptor that activates pathways enabling synthesis of the thyroid hormones, and proliferation of the thyrocytes [1]. Activating disease-causing variants in the thyrotropinreceptor (TSHR) gene are associated with non-autoimmune hyperthyroidism. In familial non-autoimmune hyperthyroidism (FNAH) activating variants are inherited in an autosomal dominant manner [2], while in sporadic congenital non-autoimmune hyperthyroidism (CNAH) they appear de novo [3]. Familial non-autoimmune hyperthyroidism is a rare disorder with 41 families reported so far in the TSHR gene mutation database [4]. The onset of the disease and clinical manifestations vary even between family members with the same disease-causing variant and might be influenced by the iodine intake and additional genetic factors [5]. Familial non-autoimmune hyperthyroidism is characterized by the positive family history of the nonautoimmune hyperthyroidism with autosomal dominant inheritance and can have variable onset and symptoms. Patients develop goiter, while clinical and laboratory signs of autoimmunity are not present [6]. Typically, patients with FNAH experience recurrence after withdrawal of the anti-thyroid treatment, non-ablative radioactive iodine (I-131) treatment, or partial thyroidectomy [7]. In addition to FNAH and CNAH, activating TSHR variants are associated with hot thyroid nodules as reviewed in recent report by Führer [8]. We present the clinical and genetic features of patients with FNAH across four generations of a Slovenian family due to a novel TSHR disease-causing variant.

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