Journal of Korean Endocrine Society 2004;19(4):398-405.
Published online August 1, 2004.
A Case of Isolated Familial Somatotropinoma.
Hwi Ra Park, Eun A Kim, Mei Hua Jiang, Chang Soo Jang, Kyoung Wook Lee, Seong Bin Hong, Eun Young Kim, Myung Kwan Lim, Moon Suk Nam, Yong Seong Kim
1Departments of Internal Medicine, College of Medicine, Inha University, Incheon, Korea.
2Departments of Neurosurgery, College of Medicine, Inha University, Incheon, Korea.
3Departments of Radiology, College of Medicine, Inha University, Incheon, Korea.
The familial occurrence of a pituitary adenoma associated with multiple endocrine neoplasia (MEN) type 1 or Carney complex is a well-recognized entity. However, an isolated familial somatotropinoma is a rare inherited disease, which is characterized by clustering of a somatotrophic adenoma and acromegaly or gigantism in a family, but without other manifestations of MEN type 1, with only 68 cases, in 28 families, described in the literature. The mode of inheritance is autosomal dominant, with incomplete penetration, but the genetic background of these pituitary adenomas remains unknown. A family exists where both the father and son were affected. Endocrinological investigations confirmed hypersecretion of GH and IGF-1, and the pituitary adenomas were identified by magnetic resonance image in both cases. There was no symptom of MEN type 1 or other form of endocrine dysfunction. Herein is reported a case of an isolated familial somatotropinoma in Korea, with a review of the literature
Key Words: Isolated familial somatotropinoma, Pituitary adenoma, Acromegaly

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