A 3-year-old boy who had been raised male, with facial dimorphism and malformations of both elbows and forearms, was referred to our unit for ambiguous genitalia. The child was the firstborn of a non-consanguineous marriage, delivered at 35 weeks of gestation by cranial presentation with a birth weight of 1,800 g. His medical history was somewhat obscure due to low parental compliance and past referrals to several primary and secondary paediatric centres with no or poor experience in managing complex malformations. A clinical examination carried out upon hospital admission revealed facial dysmorphism: a trapezoidal face, a flat nose and low-set ears; moreover, both elbow joints had severe limitations of flexion-extension and pro-supination movement. X-ray examination of the elbows and forearms revealed bilateral radiohumeral and radioulnar synostosis. Examination of the external genitalia revealed a hypoplastic phallic-like structure with the urethral opening at its base (fig. 1). Below, in the perineum, were labial scrotal folds but they had no obvious content on palpation. Cardiac, renal and gastrointestinal functions were all within the normal range. The endocrine profile showed elevated 17-hydroxyprogesterone and follicle-stimulating hormone, and normal cortisol, DHEA-S, luteinizing hormone and mineralocorticoids. Karyotyping revealed a 46XX pattern. Based on the clinical assessment, the suspicion of ABS was raised. The patient was further referred to the Department of Medical Genetics, where amplification and direct sequencing of all coding exons of the POR gene were performed. The results indicated the homozygous transversion c.859G>C. Both abdominal ultrasound and MRI confirmed the presence of a uterus but failed to reveal ovaries within the pelvis. MRI also revealed a hypoplastic vagina that ended in a distal atretic urogenital sinus (fig. 2). The exact length of the common channel and the exact relation of the vagina and urethra could not be determined from the MRI. Further clinical and paraclinical examinations revealed no other malformations. The patient was seen by a multidisciplinary team composed of a geneticist, an endocrinologist, a paediatric surgeon and a paediatric psychiatrist. Based on the karyotype and an almost normal ovarian function, the team of specialists recommended surgical intervention, which the parents accepted. The surgical intervention for the ambiguous genitalia was performed through a combined perineal and transabdominal approach; the external orifice of the urogenital sinus was posteriorly opened and the urethra was identified, isolated and cannulated via a median perineal incision. The urethral meatus was transposed 1.5 cm posteriorly from the hypertrophied clitoris using part of the common channel to reconstruct the urethra. A median subumbilical incision was performed and the lower peritoneal cavity was entered in order to evaluate the status of the internal genitalia. Inside the peritoneal cavity, the uterus and the two ovaries were identified; both were of normal appearance. A combined sharp and blunt dissection of the vagina was performed and it was mobilized to the perineum in a caudal direction. The distal end of the vagina was identified approximately 1 cm above the perineal skin. The vagina was approximately 1-1.5 cm in length and approximately 0.5 cm in diameter. The perineum trough was opened using a Y-incision, and it anastomosed the mobilized vagina to the perineum. Two lateral incisions were then performed and, by folding the tegument of the pseudoscrotum, the two labia majora were tailored. Finally, the clitoris was folded backward and attached to the perineal skin between the two labia. Because the vaginal neo-introitus had a tendency towards stenosis, vaginal dilatation was performed on a daily basis after the surgery. The patient received prophylactic antibiotics as well as pain and anti-inflammatory medications. The postoperative course was uneventful and the patient was released from the hospital 10 days after the surgery. Six months later, the overall appearance of the external genitalia was satisfactory despite the fact that the reconstructed labia majora were somehow hypoplastic. The vaginal and urethral openings were patent, non-stenotic and clearly demarcated from each other and the patient had good continence for urine and faeces.