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- Takeuchi Takako
- Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan
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- Yoto Yuko
- Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan
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- Ishii Akira
- Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan
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- Tsugawa Takeshi
- Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan
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- Yamamoto Masaki
- Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan
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- Hori Tsukasa
- Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan
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- Kamasaki Hotaka
- Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan
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- Nogami Kazutaka
- Department of Pediatrics Hematology and Oncology, Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan
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- Oda Takanori
- Department of Pediatrics Hematology and Oncology, Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan
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- Nui Akihiro
- Department of Pediatric Surgery, Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan
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- Kimura Sachiko
- Department of Pathology, Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan
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- Yamagishi Takuya
- Maternal-Child Screening Division, Health Science Section, Sapporo City Institute of Public Health, Sapporo, Japan
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- Homma Keiko
- Clinical Laboratory, Keio University Hospital, Tokyo, Japan
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- Hasegawa Tomonobu
- Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
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- Fukami Maki
- Department of Molecular Endocrinology, National Center for Child Health and Development, Tokyo, Japan
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- Watanabe Yoko
- Inspection Department, ASKA Pharma Medical Co., Ltd, Kawasaki, Japan
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- Sasamoto Hidehiko
- Inspection Department, ASKA Pharma Medical Co., Ltd, Kawasaki, Japan
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- Tsutsumi Hiroyuki
- Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan
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<p>We present a 4-yr-old boy with adrenocortical carcinoma (ACC), diagnosed due to the appearance of gynecomastia as the presenting symptom. Six months prior to admission, an acute growth spurt along with the development of bilateral breast swelling was observed. He did not present any features of virilization, including enlargement of the testes, increase in testis volume, and penis size. Laboratory investigations showed gonadotropin-independent hypergonadism, with low LH/ FSH levels and elevated estradiol/testosterone levels. Abdominal computed tomography revealed a large heterogeneous mass adjacent to the right kidney and below the liver. Pathological investigations of the biopsy specimen demonstrated that the tumor was an ACC. Pre- and post-operative combination chemotherapy with mitotane was administered and surgical resection was carried out. Post-surgery, the elevated estradiol/testosterone concentrations reverted to within the reference range. Urinary steroid profile and tissue concentration analysis of estradiol and testosterone indicated the presence of estrogen in the ACC tissue. An investigation for TP53 gene aberrations revealed the presence of a germline point mutation in exon 4 (c.215C>G (p.Pro72Arg)). In ACC, the most common symptom is virilization, and feminization, characterized by gynecomastia, is very rare. However, a diagnostic possibility of ACC should be considered when we encounter patients who have developed gynecomastia without the influence of causative factors such as obesity or puberty, and do not present with the typical signs of virilization.</p>
収録刊行物
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- Ｃｌｉｎｉｃａｌ Ｐｅｄｉａｔｒｉｃ Ｅｎｄｏｃｒｉｎｏｌｏｇｙ
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Ｃｌｉｎｉｃａｌ Ｐｅｄｉａｔｒｉｃ Ｅｎｄｏｃｒｉｎｏｌｏｇｙ 27 (1), 9-18, 2018
日本小児内分泌学会
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詳細情報 詳細情報について
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- CRID
- 1390282679460767360
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- NII論文ID
- 130006322094
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- DOI
- 10.1297/cpe.27.9
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- ISSN
- 13477358
- 09185739
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- Crossref
- CiNii Articles
- KAKEN
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- 抄録ライセンスフラグ
- 使用不可