SAT-207 Adrenocortical Carcinoma in Untreated Congenital Adrenal Hyperplasia

Background: Congenital adrenal hyperplasia (CAH) is a group of rare inherited autosomal recessive disorders characterized by a deficiency of various enzymes participating in steroid hormone synthesis. It occurs in 1 in 5000 to 1 in 15000 births. The most common (90-95%) cause of CAH is the absence of the enzyme 21-hydroxylase. We are presenting a case of a 34 year old male with untreated congenital adrenal hyperplasia due 21-hydroxylase deficiency and metastatic adrenocortical carcinoma. Case: A 34 year old male with a history of classic congenital adrenal hyperplasia (CAH) untreated since childhood presented with symptoms of right abdominal pain, anorexia and weight loss. His family history was significant for one brother diagnosed with CAH, father with liver and pancreatic cancer and another brother with colon cancer. After 2 weeks of treatment with NSAIDs for the pain, his abdominal pain worsened and patient also reported dyspnea with minimal exertion and dry cough. The patient was admitted to TUMC and his evaluation revealed a large right adrenal mass (17x11cm) with multiple liver and lung lesions suggestive of metastatic cancer. The adrenal mass was needle biopsied and pathology results were diagnostic of adrenal cortical carcinoma. His baseline morning cortisol level was 22.45 mcg/dL, ACTH 13.2 (n=7.2-63.3), androstenedione 291 ng/dL (n=27-152), 17-hydroxy progesterone 10,850 ng/dL (n=27-199), testosterone 140 mg/dL, renin 1.295 ng/ml/h (n=0.167-5.38), aldosterone unable to assay due to interference and LDH 2011 U/L (n=87-241). He failed an overnight 1mg dexamethasone suppression test with cortisol of 20.17 in the morning. During hospitalization, his clinical condition gradually deteriorated with hypotension, altered mental status, acute respiratory failure and acute liver failure with an AST 2787 units/L (n <39), ALT 399 (n=30-65) and ALP 1013 units/L (n=40-120). Oncology decided that the patient was a poor candidate for antineoplastic treatment therefore he was offered hospice care and eventually expired. Discussion: There have been reports of benign and malignant adrenal tumors in patients with CAH. It has been surmised that ACTH is the driver of adrenal tumor transformation in these patients. Our patient with adrenocortical carcinoma presented at a late stage with widespread metastases resulting in death. His elevated cortisol level occurred in association with low normal ACTH and the failed 1mg overnight dexamethasone suppression test are consistent with tumor production of cortisone. Considering that he had untreated CAH since childhood, we assume elevated ACTH levels were present until tumor transformation occurred.