Gender Identity in a Case of Congenital Adrenal Hyperplasia 21-Hydroxylase Deficiency, Non-Salt Wasting Type and the Role of Androgens on Social and Gender Development

Presentation Number: SAT 366
Date of Presentation: April 1st, 2017

Ben Brannick*1 and Saba Khayal2
1University of Tennessee, Memphis, TN, 2University of Tennessee Health Science Center, Memphis, TN


Case: This is a case of a 45-year-old male who presented to the Endocrinology clinic. He has a past medical history significant for congenital adrenal hyperplasia (CAH), recurrent pancreatitis from overuse of alcohol, major depressive disorder, hypertension, and childhood genitoplasty at age 14 years. He stated that he was raised as a girl by his parents/grandparents. However, he never developed periods or menstrual cycles and was never treated medically (such as with glucocorticoids) prior to coming to Endocrinology in 2014. In addition, he never had a salt-wasting crisis and was never hospitalized for hypovolemia, shock, or hypotension. In review of his prior laboratory data he was found to have a 17-OH-Progesterone of 18,409 ng/dl (27-199). An androstenedione level was found to be 192 ng/ml (27-152). He was subsequently started on glucocorticoids which brought the 17-OH-Progesterone down to 146 ng/dl. His social history is significant for drinking four 24-ounce beers daily. He enjoys watching sports on television, particularly football.  Pertinent positives on physical exam revealed his height of 59 inches (4’11”). He also demonstrated round, cushingoid “moon facies.” On genitourinary exam, there was the presence of fused labia, clitoromegaly, and a single orifice in the perineum. In addition, there was a small, vaginal introitus. No palpable inguinal masses. He did have a pelvic ultrasound which demonstrated “No sign of testicles with the inguinal canal or into the perineum.” A prior CT of the abdomen and pelvis showed “diffuse nodular enlargement of the adrenal glands bilaterally. On the left, there are multiple rounded hypodensities with largest distinct mass measuring 2.0 x 1.8 cm in size.”

Discussion: In summary, this is a case of 45-year-old phenotypically and (likely) karyotypically female, but who identifies socially and psychologically as male. He most likely has deficiency in CYP21A2 activity due to the high levels of plasma 17-hydroxyprogesterone, physical exam findings and medical history. In spite of childhood rearing as a female, his social and psychological preference is to identify as a male. In review of the literature, between 5-15% of patients with CAH, karyotypically female, will identify as male. This is felt to be related to the concept of androgen imprinting where elevated levels of androgens on the developing brain influence gender preference over karyotype and sexual assignment(1). It is important to note that the androgen elevation is not from testicular or ovarian production but from the adrenal glands. These lifelong elevated androgen levels in this patient likely contributed to his gender identity.

Conclusion: In cases of congenital adrenal hyperplasia it is important to consider the role of androgens in gender identity which may have more influence than childhood sexual assignment.


Nothing to Disclose: BB, SK