Article
Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene.
The Journal of clinical endocrinology and metabolism - 1 May 2003
Fragoso Maria Candida Barisson Villares, Domenice Sorahia, Latronico Ana Claudia, Martin Regina Matsunaga, Pereira Maria Adelaide Albergaria, Zerbini Maria Claudia Nogueira, Lucon Antonio Marmo, Mendonca Berenice Bilharinho
Abstract excerpt
ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an uncommon cause of Cushing's syndrome characterized by bilateral nodular adrenocortical hyperfunction in the presence of suppressed ACTH levels. We investigated whether activating mutations in the ACTH receptor (MC2-R) or G(s alpha) (GNAS1) genes might be involved in AIMAH genesis. Five women with Cushing's syndrome due to AIMAH, confirmed by...
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