Beta-human chorionic gonadotropin-producing neuroblastoma: an unrecognized cause of gonadotropin-independent precocious puberty
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- Maeyama Takatoshi
- Department of Gastroenterology, Nutrition, and Endocrinology, Osaka Women’s and Children’s Hospital, Osaka 594-1101, Japan
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- Ichikawa Chihiro
- Department of Pathology, Osaka Women’s and Children’s Hospital, Osaka 594-1101, Japan
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- Okada Yosuke
- Department of Hematology/Oncology, Osaka Women’s and Children’s Hospital, Osaka 594-1101, Japan
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- Sawada Akihisa
- Department of Hematology/Oncology, Osaka Women’s and Children’s Hospital, Osaka 594-1101, Japan
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- Inoue Masami
- Department of Hematology/Oncology, Osaka Women’s and Children’s Hospital, Osaka 594-1101, Japan
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- Takeuchi Makoto
- Department of Pathology, Osaka Women’s and Children’s Hospital, Osaka 594-1101, Japan
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- Soh Hideki
- Department of Pediatric Surgery, Osaka Women’s and Children’s Hospital, Osaka 594-1101, Japan Department of Pediatric Surgery, Kawasaki Medical School, Okayama 701-0192, Japan
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- Usui Noriaki
- Department of Pediatric Surgery, Osaka Women’s and Children’s Hospital, Osaka 594-1101, Japan
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- Etani Yuri
- Department of Gastroenterology, Nutrition, and Endocrinology, Osaka Women’s and Children’s Hospital, Osaka 594-1101, Japan
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- Kawai Masanobu
- Department of Gastroenterology, Nutrition, and Endocrinology, Osaka Women’s and Children’s Hospital, Osaka 594-1101, Japan Department of Bone and Mineral Research, Research Institute, Osaka Women’s and Children’s Hospital, Osaka 594-1101, Japan
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Abstract
<p>The pathogenesis of gonadotropin-independent precocious puberty (PP) includes both congenital and acquired forms, the latter of which may be associated with neoplasms, such as sex-steroid hormone-producing tumors. Beta-human chorionic gonadotropin (β-hCG)-producing tumors also cause gonadotropin-independent PP by stimulating the production of testosterone in Leydig cells. Germ cell tumors and hepatoblastoma both produce β-hCG; however, there is limited evidence to show that gonadotropin-independent PP is caused by other β-hCG-producing tumors. We herein report the first case of β-hCG-producing neuroblastoma associated with the development of gonadotropin-independent PP. A 2-year-old boy presented with an increased penile length, enlargement of the testes, pigmentation of the external genitalia, and growth acceleration. Imaging, blood, and urinary examinations revealed the presence of neuroblastoma in the right adrenal region. Decreased levels of luteinizing hormone and follicle-stimulating hormone with an increased testosterone level were indicative of gonadotropin-independent PP. Since serum β-hCG was elevated, β-hCG-producing neuroblastoma was suspected. Histological findings of the resected tumor were compatible with neuroblastoma. An immunohistochemical analysis using serial sections revealed staining for β-hCG in synaptophysin-positive cells. Furthermore, immunofluorescence showed the co-staining of β-hCG with neuron-specific enolase. These results suggested that β-hCG was produced by tumor cells. Surgical removal of the tumor promptly normalized serum β-hCG and testosterone levels. In conclusion, we propose the addition of neuroblastoma to the list of differential diagnoses of gonadotropin-independent PP with β-hCG positivity in serum that includes germ cell tumors and hepatoblastoma.</p>
Journal
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- Endocrine Journal
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Endocrine Journal 69 (3), 313-318, 2022
The Japan Endocrine Society
