Non-classical congenital adrenal Hyperplasia with accompanying congenital anomalies: Vaginal atresia, left kidney agenesis, and urogenital malformations

ABSTRACT

@#A 16-year-old male-looking patient presented at the emergency room for severe abdominal pain. Physical examination revealed acute abdomen, ambiguous genitalia, empty rectal vault with watery discharge and right lower quadrant palpable mass. Ultrasound showed a uterus and right adnexal mass. General surgery evaluated urethral patency and noted presence of recto-urethral fistula. Surgical exploration, right salpingo-oophorectomy and suprapubic cystostomy were done. Immediate referral to a reproductive endocrinologist was done postoperatively. Retrograde urethrogram and cystogram revealed neurogenic bladder with fistula formation. On follow up, whole abdomen MRI revealed thickened endometrium with fluid levels, tortuous left fallopian tube, multiloculated left adnexal mass and left renal agenesis. Serum levels of 17-hydroxyprogesterone and cortisol were noted to be elevated and karyotyping revealed 46 XX. Patient then underwent psychiatric evaluation and assessment. Patient was readmitted for urology and pediatric surgery diagnostic work up. However, regardless of the findings, patient decided not to undergo further surgeries and opted to be female.