Publication:
Two siblings with familial subclinical hyperthyroidism with unknown etiology

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SCHOOL OF MEDICINE
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Özsu, Elif
Çizmecioğlu, Filiz Mine
Bircan, Rifat
Hatun, Şükrü

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Abstract

Subclinical hyperthyroidism is defined as low or undetectable concentration of serum thyrotrophin (TSH) with normal free triiodothyronine (FT3) and free thyroxine (FT4) levels. 1). Familial subclinical hyperthyroidism is a rare entity. Activating mutations of the TSH receptor (TSH-R) gene cause genetic hyperthyroidism. Here we present a family with more than one affected individual. All family members were investigated for TSH-R mutation. No mutation was detected, while a A459 polymorphism was found in one of the cases and three other siblings. Despite the clinical and biochemical findings suggesting a TSH-R mutation, a reasonable cause could not be detected. Epigenetic and environmental modifiers, including iodine intake, should be considered in families with mutation negative, familial non auto-immune hyperthyroidism (FNAH).

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Effect Publishing Agency ( EPA )

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Genetics, Pediatrics / Genetik, Pediatrik

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Medicine Science

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DOI

10.5455/medscience.2016.05.8537

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