Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) is a genetic condition which impairs enzymatic steroidogenesis of the adrenal cortex, leading to excessive androgen production. CAH phenotype is heterogeneous. In the mildest forms, it can present with hirsutism, acne and menstrual irregularities. Problems related to gender identification arise in about 5% of people with CAH with a 46,XX karyotype.

Objective: We present the case of a young female-to-male (FtM) transgender, who was diagnosed with non-classical CAH during medical evaluation prior to the initiating of hormone therapy.

Clinical Case: We present the case of a 23 year old youth, who was born from a twin pregnancy, with female gender assigned at birth. Since early, this child identified with the opposite sex – he would mostly play with boys and dressed up to look like one of them. Their parents report that as soon as 4 years of age, he would already tell he was a boy. Menarche occurred at teh age of 15, with irregular menstrual cycles and dysmenorrhea. He reports hirsutism since adolescence. At 17 years of age, he sought medical evaluation, as he was determined to go through a sexual reassignment process. The initial biochemichal evaluation showed an increase in basal plasma 17-hydroxyprogesterone (17-OHP) (9.75 ng/ml), increased 17-OHP in the cosyntropin stimulation test (0 min: 9.48 ng/ml, 60 min: 20.31 ng/ml) and normal dehydroepiandrosterone (199 mg/dl (35-430)). There results suggested the diagnosis of non-classical CAH. The karyotype revealed a 46, XX pattern. When he as 19 years old, he was started on hormone therapy with testosterone and underwent bilateral mastectomy. He is currently awaiting the remaining gender-affirming surgical procedures – he intends to undergo phalloplasty, hysterectomy and adnexectomy.

Conclusions: Non-classical CAH may be associated with atypical sexual development and, occasionally, with changes in gender identity, as in the presente case. Sexual development seems to be influenced by the exposure to androgens, which occurs since intrauterine life. This argument is supported by the masculinizing effects of androgen exposure in children with 46,XX karyotype, which may determine their behaviours, sexual orientation and gender identity. This issue becomes particularly relevant given the preference for early feminization in clinical practice in these individuals. Indeed, there is no evidence that this early gender definition approach is associated with better quality of life and sexual function. The approach to transgender individuals should be multidisciplinary and concomitant anomalies of sexual development, such as CAH, must be investigated.