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A possible new syndrome with double endocrine tumors in association with an unprecedented type of familial heart-hand syndrome: a case report
http://hdl.handle.net/2297/48399
http://hdl.handle.net/2297/483999a340977-1cbd-4960-9e3b-cf0f819d9c13
| 名前 / ファイル | ライセンス | アクション |
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ME-PR-YAMAGISHI-M-347.pdf (389.5 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2017-10-03 | |||||
| タイトル | ||||||
| タイトル | A possible new syndrome with double endocrine tumors in association with an unprecedented type of familial heart-hand syndrome: a case report | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| 著者 |
Demura, Masashi
× Demura, Masashi× Yoneda, Takashi× Karashima, Shigehiro× Higashikata, Toshinori× Mabuchi, Hiroshi× Kawano, Mitsuhiro× Yamagishi, Masakazu× Takeda, Yoshiyu |
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| 書誌情報 |
Journal of Medical Case Reports 巻 4, p. 347, 発行日 2010-10-29 |
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| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 1752-1947 | |||||
| DOI | ||||||
| 関連タイプ | isIdenticalTo | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | 10.1186/1752-1947-4-347 | |||||
| 出版者 | ||||||
| 出版者 | BioMed Central | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Introduction: The combination of a pituitary prolactinoma and an aldosterone-producing adrenal adenoma is extremely rare. To the best of our knowledge, double endocrine tumors in association with heart-hand syndrome have not previously been reported. Case Presentation: A 21-year-old Japanese woman presented with galactorrhea and decreased visual acuity.A large pituitary adenoma with an increased level of serum prolactin was apparent by computed tomography. She additionally showed mild hypertension (136/90mmHg)accompanied by hypokalemia. The plasma aldosterone concentration was increased. Computed tomography showed a mass in the right adrenal gland. No other tumors were found despite extensive imaging studies. Physical and radiographic examinations showed skeletal malformations of the hands and feet, including hypoplasia of the first digit in all four limbs. An atrial septal defect was demonstrated by echocardiography. Similar digital and cardiac abnormalities were detected in our patient's father, and a clinical diagnosis ofhereditary heart-hand syndrome was made. Conclusion: No established heart-hand syndrome was wholly compatible with the family's phenotype. Her father had no obvious endocrine tumors, implying that the parent of transmission determined variable phenotypic expression of the disease: heart-hand syndrome with multiple endocrine tumors from the paternal transmission or no endocrine tumor from the maternal transmission. This suggests that the gene or genes responsible for the disease may be under tissue-specific imprinting control. | |||||
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| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
