MON-360 Genital Reconstruction for Ambiguous Genitalia: A Case Report on Congenital Adrenal Hyperplasia

Abstract

Background: Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. Mutations in the gene CYP21A2 encoding adrenal enzyme 21-hydroxylase (P450c21) leads to blockage of corticol synthesis and diversion of its precursors to sex hormone biosynthesis. Cardinal features among females include ambiguous genitalia and progressive virilization. Clinical Case: A 16 year-old female presented with ambiguous genitalia since birth. 46XX karyotype and an elevated 17-hydroxyprogesterone (17-OHP) were noted on initial work-up. Pelvic ultrasound showed remnants of the vagina. Family history was unremarkable. She was managed as a case of congenital adrenal hyperplasia, classic virilizing form, currently maintained on prednisone 5mg/tab, 1 tablet once a day. She underwent vaginoplasty via urogenital mobilization at 1 year of age. Menarche was at 15 years old with irregular menses and scanty in volume. On physical examination, patient had a masculine voice, prominent brow ridge and jaw line, with excess hair on upper lip, chin and lower extremities (Ferriman Gallwey score of 16). Breasts were underdeveloped (Tanner Stage 2) with pubic hair extending to medial thighs (Tanner Stage 5). Clitoris was enlarged at 2.5 cm, with normal vaginal opening and perineum. There were no features of Cushing syndrome. Patient has regular follow-up with her paediatrician, endocrinologist, urologist, and school psychologist. Annual counselling regarding genital reconstruction and monitoring of serum 17-OHP were done. Latest 17-OHP result at 14 years old was 10 nmol/L (NV = 0.82-8.78 nmol/L) via radioimmunoassay. Gender preference was that of a female. She then underwent neurovascular sparing clitoroplasty. Stress doses of hydrocortisone was administered peri-operatively. No urinary incontinence, urinary tract infection nor decrease in clitoral sensitivity was noted post operatively. Recent pelvic ultrasound showed normal-sized anteverted uterus with intact endometrium. Patient is satisfied with the surgical outcome, although sexual function cannot be fully evaluated as she is sexually inactive. Feelings of anxiety and self-consciousness were subdued by sharing her thoughts to her parents and closest friends. She is currently clinically stable with no signs or symptoms of glucocorticoid deficiency or excess. Conclusion: The present case emphasized that in managing congenital adrenal hyperplasia, long-term monitoring and evaluation of multiple clinical aspects including fertility and psychological issues are of great value. Despite genital reconstruction, gender identity problems may still arise. Addition of androgen inhibitors can be considered. Addressing psychosocial issues in such patients is also a continuous process and should not be overlooked.