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

• Main Authors: Kotaro Tomonaga (Author), Kazunori Tahara (Author), Toshihiko Watanabe (Author), Michinobu Ohno (Author), Katsuhiro Ogawa (Author), Mai Kutsukake (Author), Akihiro Fujino (Author), Tomoro Hishiki (Author), Kenichi Kinjyo (Author), Reiko Horikawa (Author), Noriyuki Katsumata (Author), Yutaka Kanamori (Author)
• Format: Book
• Published: Elsevier, 2018-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 incr...