engleski

Primary pigmented nodular adrenocortical disease could be one of more common causes of endogenous Cushing's syndrome in children

Endogenous Cushing's syndrome (ECS) is a relatively uncommon disease in children. The aim of the study is to review the etiology of ECS in children at the Department of Pediatrics, University Hospital Zagreb, Croatia. Data of patients diagnosed with ECS during the period of 1994. to 2004. have been retrospectively analyzed. Among 7 patients aged 14 or less, one patient had adrenocortical carcinoma, one patient had corticotropin adenoma and the remaining 5 patients were diagnosed with primary pigmented nodular adrenocortical disease (PPNAD). Three girls (aged 8, 10 and 11 years) and 2 boys (aged 13 and 14 years) with ECS caused by PPNAD are presented. The symptoms of hypercortisolism developed 3 to 5 years prior to establishment of diagnosis. Among female patients, the oldest had lentigines, spotty pigmentation of lips and psammomatous schwannoma removed from her back, and one had lentigines only. Among male patients, prolactinoma has been extracted in the older patient, and they both had lentigines. Only the youngest girl had no associated signs usually found in Carney complex (CC). All 5 patients had moderately elevated plasma and urinary free cortisol levels and disturbed diurnal rhythm of ACTH and cortisol secretion. Only one patient had complete suppression of ACTH levels. All patients underwent bilateral adrenalectomy followed by replacement therapy with gluco- and mineralocorticoids. Adrenals were normal in size and histological findings were consistent with PPNAD. None of the examined family members showed any clinical or laboratory signs typical for CC, although in 4/5 patients PPNAD was found as part of this autosomal dominant inherited disorder. DNA analysis of the PRKAR1A gene in patients and family members will be performed. PPNAD, isolated or as part of a CC seams to be one of more common causes of endogenous hypercorticolism in children. PPNAD should be considered in patients with mild hypercortisolism and slow progression of symptoms of Cushing's syndrome, especially if there are other signs associated with CC.

Cushing's syndrome; primary pigmented nodular adrenocortical disease; Carney complex

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