Anatomical variations of the external genitalia in posterior cloaca: clinical consequences of misdiagnosis. A systematic review of the literature and the ARM-net Consortium experience.

Nine patients with PC were identified in the ARM-Net registry. Five patients (55%) were diagnosed with AG, two (22%) were assigned as males and only 2 patients were correctly assigned as females and diagnosed with PC with respective variations of external genitalia. All patients diagnosed with AG had extensive blood testing including karyotype and hormonal studies. One of the patients who was diagnosed as a male, had surgery for pelvic cystic mass removal, which ultimately led to unaware salpingo-oophorectomy, hysterectomy, and vaginectomy. In the literature we identified 60 patients, 14 (23%) with AG, 1 with clitorolabial transposition and 1 with undeveloped vulva and vagina; 4 patients had normal anatomy. In forty (67%) patients the anatomy of genitalia was not mentioned. Conclusion Patients with PC are at high risk of being diagnosed with AG or even assigned the wrong gender at birth. In our series two patients were assigned as males, and consequently one of them underwent a highly mutilating surgery. A thorough physical examination together with a high index of suspicion and lab workup are mandatory to identify these variations, avoiding further investigations, unnecessary surgeries, and parental stress.