Feminizing Genitoplasty in Patients with 46XX Congenital Adrenal Hyperplasia

Abstract

Congenital adrenal hyperplasia (CAH) is the most common cause of ambiguous genitalia in newborns. This paper is based upon review of the literature and personal experience. We focus upon the surgical anatomy, pre-operative evaluation, including imaging, mainly by transabdominal ultrasound, and upon the goals and the history of surgical reconstruction. The various surgical techniques are mentioned with a detailed description of our technique used in 52 patients. The timing and staging of the operation and the implications of prenatal therapy are discussed. In conclusion, we believe that infants with 46XX CAH can undergo one-stage feminizing genitoplasty very early in life with satisfactory cosmetic and functional results.

Fertility in Patients with Congenital Adrenal Hyperplasia

“…Surgical reconstruction of ambiguous genitalia in 46,XX neonates consists of reduction of clitoral size, creation of labia minora and exteriorisation of the vagina, thereby creating a functional vagina to allow menstruation and sexual activity 60 There is controversy about the rate of bisexuality or homosexuality. Other psychosocial factors can be anxiety about sexual activity and inability to achieve orgasm.…”

Reconstructive surgery for females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review from the Prince of Wales Hospital

“…Other investigators have demonstrated similar results. 3,4 As identified by van der Zwan et al, 15 there is a trend for a less satisfactory outcome in patients with high confluence. This confirms our impression that finding high confluence poses a more difficult challenge for the operative correction.…”

“…This could range from a labiaplasty to flap vaginoplasty or modified Passerini procedure. [3][4][5] Following the initial healing phase, dilatation of the vagina is recommended according to our protocol until the tissue is supple, usually after a few months. At the time of puberty, the vagina is again assessed and dilatations are recommended, as necessary, by the gynaecologist.…”

Congenital adrenal hyperplasia: Results of medical therapy on appearance of external genitalia

“…clitoral recession and clitoroplasty. The Fortunoff perineal flap for vaginoplasty was replaced with the use of preputial [2,13,14]. The use of these techniques minimized the complications related to vaginal stenosis, urinary incontinence, an inadequate vaginal orifice and vaginal hypospadias.…”