A Case of Isolated Familial Somatotropinoma / 대한내분비학회지
Journal of Korean Society of Endocrinology
;
: 398-405, 2004.
Artículo
en Coreano
| WPRIM
| ID: wpr-131911
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
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Neoplasias Hipofisarias
/
Testamentos
/
Acromegalia
/
Factor I del Crecimiento Similar a la Insulina
/
Neoplasia Endocrina Múltiple
/
Adenoma
/
Adenoma Hipofisario Secretor de Hormona del Crecimiento
/
Somatotrofos
/
Padre
/
Complejo de Carney
Tipo de estudio:
Estudio pronóstico
Límite:
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Coreano
Revista:
Journal of Korean Society of Endocrinology
Año:
2004
Tipo del documento:
Artículo
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