고립성 가족성 성장 호르몬 분비선종 1예 = A Case of Isolated Familial Somatotropinoma

다국어 초록 (Multilingual Abstract)

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.

국문 초록 (Abstract)

저자들은 국내에 아직 보고된 바 없는 드문 예인 아버지와 아들이 뇌하수체 선종에 의한 말단 비대증과 거인증으로 진단된 고립성 가족성 성장 호르몬 분비선종을 경험하였기에 문헌고찰과 함께 보고하는 바이다.

참고문헌 (Reference)

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14 Verloes A, "Case report and review of the literature" 273-1 277, 1999