SAT326 Massive Adrenomyelolipomas Due To Longstanding CAH

Abstract

Abstract Disclosure: Q. Aziz: None. A. Champion: None. Introduction: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder caused by deficiency in adrenal corticosteroid biosynthesis. 21 Hydroxylase Deficiency is common in 90-95% of CAH cases and have a defect in converting 17 OH Progesterone to 11 deoxycortisol. Therefore, they have an increase in ACTH secretion due to the decrease negative feedback drive along with excess adrenal androgens. Adrenal myelolipoma are common in patients with CAH and the tumors are benign and lipomatous. Clinical Case: Patient is a 47 year old female with past medical history of CAH presents to the clinic for evaluation of generalized fatigue and abdominal pain. She was diagnosed with CAH- 21 hydroxylase deficiency at birth and required vaginal reconstruction surgery. She was on hydrocortisone and fludrocortisone until age 18, but thereafter stopped taking medications or seeing physicians for nearly 30 years. CT abdomen/pelvis showed large bilateral adrenal myelolipomas, right adrenal gland measuring 23.2 cm and left adrenal gland measuring 20 cm. MRI confirmed enlarged adrenal glands. Initial labs included ACTH 299, 17-OH Progesterone >2000, 11 deoxycorticosterone 23.6, total testosterone 160, free testosterone 30.3, DHEA-S 192, Cortisol 2.8. She was started on fludrocortisone 50 mcg and Hydrocortisone 10 mg in the morning and 5 mg in the evening and was referred to an endocrine surgeon out of state, but surgery was not offered due to concerns of medication nonadherence. She returned to clinic 6 months after presentation, she admitted to missing multiple doses of her hydrocortisone. Repeat CT Abdomen and Pelvis showed severe compression of the IVC and right lobe of the liver along with mild compression of the kidneys and pancreas. To improve adherence, she was switched to prednisone, and eventually dexamethasone 0.75mg and fludrocortisone 100mcg. She complains of fatigue but improved abdominal pain. After a period of good adherence with medication administration, she was referred to a local surgical oncologist who agreed to do bilateral adrenalectomy due to mass effect. Conclusion: CAH is a challenging chronic disease with variable penetrance in phenotype, ranging from mild hirsutism to frank adrenal insufficiency. Massive adrenomyelolipomas are thought to be ACTH driven, especially seen in undertreated and longstanding CAH. Without the 21 hydroxylase enzyme to convert 17 OH Progesterone to 11 deoxycortisol, levels of ACTH rise. While these myelolipomas are benign and can generally be monitored, surgery should be considered if the size impairs function of surrounding organs. Bilateral adrenalectomy can also be considered in patients with CAH for refractory hypertension, hyperandrogenism and virilization, Cushing syndrome, infertility, or mass effect. Presentation: Saturday, June 17, 2023