ABSTRACT
A 46XX patient raised as boy, affected by severely masculinized female adrenogenital syndrome [congenital adrenogenital hyperplasia] received female sex assignment and underwent a one-stage clitorovulvoplasty and vaginoplasty at the age of 3 years. The patient was never hospitalized, in spite of persistent vomiting from birth and the appearance of pubic hair and facial acne at 1 year and 6 months of age. At the age of 2 years and 10 months, the correct diagnosis of female congenital adrenogenital hyperplasia was finally reached. The father took the final, difficult decision of gender reversal and the patient was prepared for a surgical program of genital reconstruction. At the time of the operation, the uncircumcised penis had an absolute normal male appearance, the stretched penile length was 7 cm and the scrotum was flat and empty. An abdominal ultrasound showed normal ovaries and uterus. The voiding cystourethrography did not show the presence of vaginal opening, therefore the preliminary endoscopic evaluation was mandatory. Inside of a very long urogenital sinus, a high implanted, narrow vaginal introitus was found at about 1.5 cm below the bladder neck. A one-stage clitorovaginovulvoplasty was performed utilizing the anterior sagittal transanorectal approach, without colostomy, and the Passerini-Glazel technique. At nine-month follow-up, the appearance of external genitalia was extremely satisfactory, the urethral meatus and vaginal introitus were definitely separate. In conclusion, a satisfactory restoration of a normal genital anatomy was carried out in a case of delayed diagnosis of severely masculinized female congenital adrenogenital hyperplasia with a remarkably high-ending and small vagina, which represents the extreme form in the spectrum of the diseases. An earlier surgical reconstruction would have allowed enormous psychological and surgical advantages in this case of clearly wrong sex assignment at birth. A small, high implanted vagina presents more of a surgical challenge, especially at the age of 3 years, but the result obtained in this case confirms the feasibility of vaginal reconstruction, together with clitorovulvoplasty, in a one-stage procedure, using the combination of the anterior sagittal transanorectal approach and Passerini-Glazel procedures