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

Kotaro Tomonaga; Kazunori Tahara; Toshihiko Watanabe; Michinobu Ohno; Katsuhiro Ogawa; Mai Kutsukake; Akihiro Fujino; Tomoro Hishiki; Kenichi Kinjyo; Reiko Horikawa; Noriyuki Katsumata; Yutaka Kanamori

Journal of Pediatric Surgery Case Reports (Nov 2018)

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

Kotaro Tomonaga,
Kazunori Tahara,
Toshihiko Watanabe,
Michinobu Ohno,
Katsuhiro Ogawa,
Mai Kutsukake,
Akihiro Fujino,
Tomoro Hishiki,
Kenichi Kinjyo,
Reiko Horikawa,
Noriyuki Katsumata,
Yutaka Kanamori

Affiliations

Kotaro Tomonaga: Division of Surgery, Department of Surgical Specialties, National Center for Child Health and Development, Japan
Kazunori Tahara: Division of Surgery, Department of Surgical Specialties, National Center for Child Health and Development, Japan
Toshihiko Watanabe: Division of Surgery, Department of Surgical Specialties, National Center for Child Health and Development, Japan
Michinobu Ohno: Division of Surgery, Department of Surgical Specialties, National Center for Child Health and Development, Japan
Katsuhiro Ogawa: Division of Surgery, Department of Surgical Specialties, National Center for Child Health and Development, Japan
Mai Kutsukake: Division of Surgery, Department of Surgical Specialties, National Center for Child Health and Development, Japan
Akihiro Fujino: Division of Surgery, Department of Surgical Specialties, National Center for Child Health and Development, Japan
Tomoro Hishiki: Division of Surgery, Department of Surgical Specialties, National Center for Child Health and Development, Japan
Kenichi Kinjyo: Division of Endocrinology and Metabolism, Department of Medical Subspecialties, National Center for Child Health and Development, Japan
Reiko Horikawa: Division of Endocrinology and Metabolism, Department of Medical Subspecialties, National Center for Child Health and Development, Japan
Noriyuki Katsumata: Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Japan
Yutaka Kanamori: Division of Surgery, Department of Surgical Specialties, National Center for Child Health and Development, Japan; Corresponding author. Division of Surgery, Department of Surgical Specialities, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan.

Journal volume & issue: Vol. 38
pp. 50 – 52

Abstract

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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. Keywords: Thyroid-stimulating hormone receptor, Autonomous adenoma, Thyroidectomy

Published in Journal of Pediatric Surgery Case Reports

ISSN: 2213-5766 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Medicine: Pediatrics; Medicine: Surgery
Website: https://www.journals.elsevier.com/journal-of-pediatric-surgery-case-reports/

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