ArticleInternal medicine (Tokyo, Japan)2021
Neurofibromatosis Type 1 with Concurrent Multiple Endocrine Disorders: Adenomatous Goiter, Primary Hyperparathyroidism, and Acromegaly.
Article in Internal medicine (Tokyo, Japan), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 10 citations in OpenAlex.
- A Comprehensive Target Panel Allows to Extend the Genetic Spectrum of Neuroendocrine Tumors.Neuroendocrinology · 2025Article
- Parathyroid carcinoma and pheochromocytoma in a patient with neurofibromatosis type 1: a rare association.Endocrinology, diabetes & metabolism case reports · 2025Article
- Association of pituitary neuroendocrine tumors and neurofibromatosis type 1: assessing causation versus coincidence. Case report.Frontiers in endocrinology · 2025Article
- A novel nomogram for predicting osteoporosis with low back pain among the patients in Wenshan Zhuang and Miao Autonomous Prefecture of China.Frontiers in endocrinology · 2025Article
- Unlocking the Genetic Secrets of Acromegaly: Exploring the Role of Genetics in a Rare Disorder.Current issues in molecular biology · 2024Review
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3 authors at 1 institution in 1 country.
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Abstract
We encountered a 70-year-old Japanese woman with neurofibromatosis type 1 (NF1) who had a history of pheochromocytoma and concurrently developed adenomatous goiter, primary hyperparathyroidism, and acromegaly. The patient had a somatotroph adenoma of the adenohypophysis that predisposed her to multinodular goiter. Three parathyroid tumors were detected by cervical ultrasonography and cervicothoracic computed tomography. Genetic analyses did not reveal genetic alterations (e.g. loss-of-function mutation) in the causative genes of endocrine tumors, including MEN1, RET, VHL, CDKN1B, and CDKN2C. The NF1 gene could not be analyzed genetically due to the patient's refusal. The pathophysiologic mechanisms of endocrinopathy concurrence in NF1 remain to be elucidated.
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