TY  - JOUR
TI  - TSHRV656F Activating Variant of the Thyroid Stimulating
Hormone Receptor Gene in Neonatal Onset Hyperthyroidism:
A Case Review
AB  - An activating variant of the thyroid stimulating hormone receptor (TSHR) gene is one of the rare causes of neonatal hyperthyroidism. This
disorder may occur as a result of an autosomal dominant inheritance or sporadically through de novo variation. Here we present a case
of neonatal onset congenital non-autoimmune hyperthyroidism (NAH) with a sporadic germline activating TSHRV656F variant. A female
infant with tachycardia, who was transferred due to hyperthyroidism in the first week of life, displayed no other symptoms or signs.
The patient’s mother did not have Graves’ disease, and TSHR stimulating antibodies were not present in the mother or baby. Imaging
showed thyroid gland hyperplasia and left ventricular hypertrophy, the patient was subsequently put on methimazole treatment. After
six months undergoing treatment, a heterozygous p.Val656Phe (V656F) (c.1966G>T) variant was detected on exon 10 of the TSHR gene.
The variant was not identified in the mother and father, so the case was assumed to be sporadic. In conclusion, although the literature
describes V656F variant as a somatic variant in children and adults with toxic thyroid nodule(s) that results in the structural activation of
the TSH receptor, no previous cases of neonatal hyperthyroidism due to TSHRV656F variant have been reported. This study is the first
case review that highlights the relationship between TSHRV656F variant and neonatal onset NAH.
AU  - çamtosun, emine
AU  - Akinci, Aysehan
AU  - Bircan, Rıfat
AU  - KAYAŞ, LEMAN
DO  - 10.4274/jcrpe.galenos.2020.2020.0229
PY  - 2022
JO  - Journal of Clinical Research in Pediatric Endocrinology
VL  - 14
IS  - 1
SN  - 1308-5727
SP  - 114
EP  - 118
DB  - TRDizin
UR  - http://search/yayin/detay/516030
ER  -