PSAT028 Congenital Adrenal Hyperplasia with Adrenal Myelolipoma: Gender Identity and Choice of Therapy

Abstract

Abstract Background Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder characterized by impaired glucocorticoid and mineralocorticoid synthesis with excessive adrenal androgen production. In affected females, most forms of CAH lead to virilization. Persons with CAH have a higher prevalence of adrenal myelolipomas compared with the general population. Clinical case A 38-year-old Spanish speaking individual who identified as male presented with headache and chest pain. Imaging revealed diffuse nodular thickening and enlargement of the right adrenal gland consistent with hyperplasia as well as 11 cm multilobulated left adrenal lesion containing macroscopic fat and soft tissue consistent with myelolipoma. A small uterus posterior to the bladder and presumed ovaries were also visualized with no visualization of prostate, spermatic cord or testicles. He reported a brother with a childhood hormone condition leading to an attempt to raise as female, resulting in subjective distress and unhappiness. Our patient never had breast development, menstrual cycles, or recurrent abdominal pain. There was no history of adrenal crisis, lightheadedness, or syncope and no hyperpigmentation on exam. He recalled salt craving as a child. Genital exam was refused by the patient. Labs demonstrated plasma cortisol 4.5 mcg/dl (6-18.4), ACTH 123 pg/ml (7-63), serum aldosterone 30 ng/dl (<=21), plasma renin activity 3.0 ng/ml/h (<=0.6-4.3), sodium 139 mEq/l (135-145) and potassium 4.2 mEq/l (3.5-5). The 17-hydroxyprogesterone concentration was 16,713 ng/dl (<=138), androstenedione was 36.52 ng/ml (0.33-1.34), and total testosterone was 621 ng/dl (male reference range 249-836). Based on the above findings and clinical history, his biologic sex was strongly felt to be female. A decision had to made regarding the need for glucocorticoid therapy and for possible adrenalectomy for the large myelolipoma. Because he had no symptoms of adrenal insufficiency and quite content with his gender identity, neither hormone therapy nor surgical intervention were performed. As of 8 months after presentation, he reported on going health and well-being. We recommended follow-up adrenal imaging and discussed glucocorticoid coverage for possible future stress conditions and educated him for this potential need. Discussion This case is unusual in that he was asymptomatic for adrenal insufficiency yet maintained male gender identity into adulthood. His adrenal myelolipoma likely developed from untreated CAH. We felt that treating with steroids and/or resecting his adrenal gland might well suppress ACTH and adrenal androgen production which would be detrimental to his gender identity and quality of life. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.