The CNC is a dominantly syndrome, characterized by spotty skin pigmentation, endocrine overactivity and myxomas (Carney & Young 1992), associated with lentigines and blue naevi; the disease links to 17q22-24, and its mutations have been identified in the genes PRKAR1α. The most common endocrine manifestations affect two o more endocrine glands, including acromegaly, thyroid and testicular tumours and ACTH-independent Cushings syndrome due to primary pigmented nodular adrenocortical disease (PPNAD). There are around 160 cases reported.
We describe the case of a 52-year-old menopausal woman who complained for pain in the right flank, but the anamnesis reflected symptoms of mild hypercortisolism (hypertension, troncular over weight, asthenia, strengthless…) and a spotty skin; a Cushings syndrome was confirmed: lost of the circadian rhythm of cortisol (26.3 mcgr/dl pm 24.5 mcgr/dl), high free urine cortisol (135 mcgr/24 h), and no suppression of the cortisol levels after 1 (259 mcgr/dl) and 8 mg (285 mcgr/dl) of Dexametasone. A 2.6 cm lesion in the left adrenal was described in the abdominal scanner and also a 8.5 cm mass in the left kidney. She was operated and the histopathology reported a pigmented nodular hyperplasia of the adrenal and an angiomiolipoma. The follow-up verified a cortisol deficiency; although there was and improvement of the symptoms, she still complained about asthenia and malaise with pain in the joints. Acromegaly was diagnosed after the pituitary study, with confirmation of elevated IGF-1 levels (482 ng/dl) and no suppression of the GH levels after OGTT (peak of GH 7 ng/dl) and an image of global growth of the pituitary in the MRI. The response to the treatment with somatostatin analogs (Sandostatin 20 mg/28 days) was good, clinically and the analysis. Breast tumour, cardiac myxoma, thyroid disease and colonic cancer were ruled out, after the images studies. The genetic study of mutations in the PRKAR1α was request.
We conclude that the hyperplasias that cause Cushings syndrome more frequently than was tought, and they are associated with other diseases, including CNC. Genetics defects of phophodiesterases might be a frequent cause of adrenal and other tumours.
03 - 07 May 2008
European Society of Endocrinology