A case of congenital autonomous thyroid adenoma with a somatic activating gene mutation in the thyroid-stimulating hormone receptor

• Published in: Journal of pediatric surgery case reports Vol. 38; pp. 50 - 52
• Main Authors: Tomonaga, Kotaro, Tahara, Kazunori, Watanabe, Toshihiko, Ohno, Michinobu, Ogawa, Katsuhiro, Kutsukake, Mai, Fujino, Akihiro, Hishiki, Tomoro, Kinjyo, Kenichi, Horikawa, Reiko, Katsumata, Noriyuki, Kanamori, Yutaka
• Format: Journal Article
• Language: English
• Published: Elsevier Inc 01.11.2018; Elsevier
• Subjects: Autonomous adenoma; Surgery; Thyroid-stimulating hormone receptor; Thyroidectomy; Autonomous adenoma; Thyroidectomy; Thyroid-stimulating hormone receptor
• ISSN: 2213-5766; 2213-5766
• DOI: 10.1016/j.epsc.2018.08.012

Abstract We report here a male case of autonomous adenoma (AA) in the thyroid that was caused by a somatic heterozygous mutation in the thyroid-stimulating hormone receptor ( TSHR ) gene at codon 453, which encodes the second transmembrane domain of the protein. This activating mutation of TSHR induced an increase in cell proliferation that resulted in the development of a thyroid goiter. The patient showed symptoms of hyperthyroidism since perinatal age and developed a thyroid goiter at the age of 1 year. Technetium scan showed a hot spot in the right lobe and weak tracer uptake in the left lobe of the thyroid, which were typical findings in AA. He underwent right hemi-thyroidectomy at 1 year and 10 months of age, and attained complete cure after surgery.