title: [Primary pigmented nodular adrenocortical disease as cause of Cushing's syndrome associated with Carney complex].
abstract: We report a 11-year-old girl and two 14-year-old boys with Cushing's syndrome due to primary pigmented nodular adrenocortical disease (PPNAD). In these patients, hypercortisolism is a consequence of autonomous cortisol secretion from adrenal glands and is ACTH-independent. Besides PPNAD, the girl had lentigines, spotty pigmentation on her bucal mucosa and lips and she also had schwannoma. One of the reported boys had prolactinoma. Considering this, those two patients fulfill the criteria for Carney complex which is a type of multiple endocrine neoplasia syndromes inherited in an autosomal dominant trait. The other boy had PPNAD but no other obvious signs of Carney complex were noticed. Family study didn't reveal any clinical or laboratory signs of Carney complex in our patients' first relatives. All of our patients underwent bilateral adrenalectomy (in one of the boys laparoscopic surgery was performed). Glucocorticoid and mineralocorticoid substitution has been started. Adrenal glands were macroscopically normal but pathohistological analysis confirmed the diagnosis of PPNAD.
authors.affiliation: Klinika za pedijatriju Rebro, KBC Zagreb.
authors.forename: Miroslav
authors.initials: M
authors.lastname: Dumić
authors.forename: Nevena
authors.initials: N
authors.lastname: Janjanin
authors.forename: Anita Spehar
authors.initials: AS
authors.lastname: Uroić
authors.forename: Jasenka
authors.initials: J
authors.lastname: Ille
authors.forename: Mate
authors.initials: M
authors.lastname: Skegro
authors.forename: Vesna
authors.initials: V
authors.lastname: Kusec
authors.forename: Igor
authors.initials: I
authors.lastname: Marjanac
authors.forename: Toni
authors.initials: T
authors.lastname: Matić
authors.forename: Drazen
authors.initials: D
authors.lastname: Jelasić
mesh_terms: D000293:Adolescent; D000303:Adrenal Cortex Diseases / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D000315:Adrenalectomy; D002648:Child; D003480:Cushing Syndrome / Q000175:diagnosis / Q000209:etiology*; D005260:Female; D006801:Humans; D017495:Hyperpigmentation / Q000150:complications; D008297:Male; D009377:Multiple Endocrine Neoplasia / Q000175:diagnosis*