Anterior sagittal transanorectal approach and Passerini-Glazel procedure: two surgical techniques combined for severely masculinized adrenogenital syndrome

A 46XX patient raised as boy, affected by severely masculinized female adre nogenital syndrome (congenital adrenogenital hyperplasia) received female s ex assignment and underwent a one-stage clitorovulvoplasty and vaginoplasty at the age of 3 years. The patient was never hospitalized, in spite of per sistent vomiting from birth and the appearance of pubic hair and facial acn e at 1 year and 6 months of age. At the age of 2 years and 10 months, the c orrect 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 reconstructi on. At the time of the operation, the uncircumcised penis had an absolute n ormal male appearance, the stretched penile length was 7 cm and the scrotum was flat and empty. An abdominal ultrasound showed normal ovaries and uter us, The voiding cystourethrography did not show the presence of vaginal ope ning, therefore the preliminary endoscopic evaluation was mandatory. Inside of a very long urogenital sinus, a high implanted, narrow vaginal introitu s was found at about 1.5 cm below the bladder neck. A one-stage clitorovagi novulvoplasty was performed utilizing the anterior sagittal transanorectal approach, without colostomy, and the Passerini-Glazei technique. At nine-mo nth follow-up, the appearance of external genitalia was extremely satisfact ory, the urethral meatus and vaginal introitus were definitely separate. In conclusion, a satisfactory restoration of a normal genital anatomy was car ried out in a case of delayed diagnosis of severely masculinized female con genital adrenogenital hyperplasia with a remarkably high-ending and small v agina, which represents the extreme form in the spectrum of the diseases. A n earlier surgical. reconstruction would have allowed enormous psychologica l and surgical advantages in this case of clearly wrong sex assignment at b irth. 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 con firms the feasibility of vaginal reconstruction, together with clitorovulvo plasty, in a one-stage procedure, using the combination of the anterior sag ittal transanorectal approach and Passerini-Glazel procedures.