Cushing Syndrome in Carney Complex: Unilateral or Bilateral Adrenalectomy?

Abstract Carney Complex (CNC) is a rare multiple endocrine syndrome dueto PRKR1A germline mutations. Primary pigmented nodular adrenal disease (PPNAD), the most frequent manifestation of responsible for non-ACTH dependent Cushing and bilateral adrenalectomy recommended treatment. We had followed up CNC family with mainly secondary to PPNAD more than 40 years over 2 generations. Six members carry present mutation PRKR1A, 4 women men. One patient accidently died one year after surgery others 5 patients were regularly up. The index case, 25 woman, was diagnosed in 1972 hyperandrogenism, short stature mild manifestations hypercortisolism. Unilateral performed on side pathology described PPNAD. Her sister subsequently treated same way. sisters did well, pregnancies both them but different post hormonal results. case partial cortisol deficiency persistent low level at 108 nmol/L. presented moderate increase evening or dexamethasone 306 nmol/L last evaluation. only events possibly associated hypercortisolism this central overweight three episodes spontaneous pulmonary embolism veinous thrombosis. Their brothers evaluated 17 39 while they developed cushing signs (round face, HTA, amyotrophy fatigability). As have been recognized time by Dr Carney, who accidentally few months later. His brother chose unilateral macronodular gland, recovered still needs substitution. daughter demonstrated 21 old like her mother. Symptoms resumed without any recurrence during 20 follow II.2 earlier seven age because she weight gain growth arrest due syndrome. Bilateral successfully substitution prescribed. Surprisingly, function seemed recover 6 treatment decreased then stopped. Adrenal CT scan not show residual gland noriodocholesterol scintigraphy confirmed uptake. She now mother near normal circadian rythm Finally, we showed long-term study that could be an option adults. Recovery occurred patient.