PRIMARNA PIGMENTNA NODULARNA ADRENOKORTIKALNA BOLEST KAO UZROK CUSHINGOVA SINDROMA U SKLOPU CARNEYEVA KOMPLEKSA

Miroslav Dumić, Nevena Janjanin, Ante Špehar Urojić, Jasenka Ille, Mate Škegro, Vesna Kušec, Igor Marjanac, Toni Matić, Dražen Jelašić

Prikazani su 11-godišnja djevojčica i dva 14-godišnja dječaka s Cushingovim sindromom uzrokovanim primarnom pigmentiranom nodularnom bolešću nadbubrežnih žlijezda (PPNAD). Pojačano lučenje kortizola u ovih je bolesnika rezultat autonomne sekrecije iz nadbubrežnih žljezda i neovisno je o stimulaciji s ACTH. Djevojčica je, uz PPNAD, imala lentigines, mrljaste  pigmentacije po bukalnoj sluznici i na usnama te švanom, dok je jedan dječak imao prolaktinom. Time oboje ispunjavaju kriterije za Carneyev kompleks, autosomno-dominantni sindrom multiple endokrine neoplazme. U drugog dječaka osim PPNAD nije bilo pouzanih znakova koji bi upućivali na Carneyev kompleks. Nitko od članova  uže obitelji naših bolesnika nije imao  kliničkih i/ili  laboratorijskih  znakova na Carneyev kompleks. U svih je bolesnika učinjena bilateralna  adrenalektomija (u jednog od dječaka laparoskopski) i uvedena je supstitucijska terapija glukokortikoidnim i mineralokortikoidima, nakon čega je započeta nadomjesna terapija glukokortikoidima i mineralokortikoidima. Patohistološki nalaz odstanjenih nadbubrežnih žljezda koje su makroskopski bile normalnog izgleda i veličine potvdio je da se u sva tri bolesnika radilo o PPNAD-u.

Summary. We report a 11 year old girl and two 14 year old boys with Cushing’s syndrome due to primary pigmented nodu- lar 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 under- went bilateral adrenalectomy (in one of the boys laparoscopic surgery was performed). Glucocorticoid and mineralo- corticoid substitution has been started. Adrenal glands were macroscopically normal but pathohistological analysis con- firmed the diagnosis of PPNAD.