[Primary pigmented nodular adrenocortical disease as cause of Cushing's syndrome associated with Carney complex].
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.
Dumić
Miroslav
M
Klinika za pedijatriju Rebro, KBC Zagreb.
Janjanin
Nevena
N
Uroić
Anita Spehar
AS
Ille
Jasenka
J
Skegro
Mate
M
Kusec
Vesna
V
Marjanac
Igor
I
Matić
Toni
T
Jelasić
Drazen
D
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*