Article
Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease.
The Journal of clinical endocrinology and metabolism - 1 Sept 2002
Groussin Lionel, Jullian Eric, Perlemoine Karine, Louvel Albert, Leheup Bruno, Luton Jean Pierre, Bertagna Xavier, Bertherat Jérôme
Abstract excerpt
Primary pigmented nodular adrenocortical disease (PPNAD) is a cause of ACTH-independent Cushing's syndrome. This condition can be difficult to diagnose because hypercortisolism may be periodic and adrenal imaging may not demonstrate an adrenal tumor. PPNAD can be part of the Carney complex (CNC), an autosomal dominant multiple neoplasia syndrome. Germline mutations of the regulatory subunit R1A of PKA (PRKAR1A)...
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