Journal of the Endocrine Society
Oxford University Press
SUN-206 A Rare Case of Untreated Congenital Adrenal Hyperplasia Leading to Gender Dysphoria and a Female to Male Transgender
Volume: 4, Issue: Suppl 1
DOI 10.1210/jendso/bvaa046.1082




Background: CAH is a common genetic disorder usually diagnosed in early childhood. However, when it is detected in adulthood, different approach and treatment strategies need to be undergone as their needs are generally different from those of children with CAH.

Case presentation: A 49-year-old male with a past medical history of recurrent urinary tract infections was admitted to the hospital with sepsis and was treated with antibiotics. CT abdomen during admission showed an incidental finding of markedly enlarged bilateral adrenal hyperplasia with an 8x5.5x5.8 cm left adrenal mass, as well as two ovaries and a uterus. Upon further history, the patient said he knew that he was born with abnormal genitalia and had a prolonged stay in the hospital immediately after birth and had surgery of his genitals at the age of six months. He was always told by his family that he is a female, although he never felt it, and he continued to identify himself as a male throughout his life.

He only had one menstrual period at the age of thirteen. He participates in sexual activities as a male but was never able to have a normal sex life. He also gave a history of salt cravings, where he consumes dry salt. He was not taking any home medications.

On examination, the patient had a male voice, a beard, male body hair distribution, no breast. The genital exam revealed labia majora, no labia minora. The rest of his examination was unremarkable.

Work up for CAH revealed normal range plasma metanephrines and DHEA. But ACTH, androstenedione, 17-OH progesterone were all elevated (90.4 pg/ml, 2737 ng/dl, and 24191 ng/dl respectively) and levels were all higher after Cosyntropin stimulation test. He was found to have primary adrenal insufficiency with a maximum cortisol level of 13.3 mcg/dl after the stimulation test.

He was started on oral Hydrocortisone and was closely followed by endocrine after discharge where long-term treatment plans were discussed and our patient decided that he wants to continue his life as a male, and was evaluated by Urology as well as OBGYN for left adrenalectomy and hysterectomy with bilateral Salpingo-Oophorectomy that was successfully performed a month later. Pathology of his left adrenals showed adrenocortical hyperplasia without evidence of malignancy. Patient was educated about lifelong corticosteroid treatment and that he would need to start testosterone replacement therapy to keep his male characteristics.

Conclusion: When children with CAH lose follow up and don’t receive treatment early in life, they can develop gender dysphoria, and their approach as adults become more challenging and it needs a multidisciplinary team to treat, address their needs and detect complications of prolonged adrenal stimulation. Additional research to the natural history and optimal interventions is needed to improve outcomes as these cases are not encountered frequently in clinical practice.

Awad, Win, and Zena: SUN-206 A Rare Case of Untreated Congenital Adrenal Hyperplasia Leading to Gender Dysphoria and a Female to Male Transgender A Rare Case of Untreated Congenital Adrenal Hyperplasia Leading to Gender Dysphoria and a Female to Male Transgender&author=Dana Awad,Htet Htet Win,Mohsen Zena,&keyword=&subject=Adrenal,Adrenal Case Reports II,AcademicSubjects/MED00250,