Androgen insensitivity syndrome

TORONTO-- Teenagers with complete androgen insensitivity syndrome need to be told that they are at high risk for sexual dysfunction, Dr. Cathy Minto advised.

"It's important that these patients have access to gynecologic and psychological expertise at a young age and for teenagers to be offered a genital exam to determine their vaginal potential," Dr. Minto said at the annual meeting of the North American Society for Pediatric and Adolescent Gynecology.

In a study presented by Dr. Minto, 60 of 67 patients with complete androgen insensitivity syndrome (CAIS) were sexually active; among these women, there was an 88% rate of sexual dysfunction and a 42% rate of severe dysfunction.

Children born with CAIS have a female phenotype and normal female secondary sexual characteristics, but they have an XY genotype, internal testes, no Mullerian structures, and an absent androgen receptor function. In addition, many CAIS patients also have short vaginal lengths (less than 10 cm), which they might not discover before attempting intercourse, said Dr. Minto, a research fellow in the department of gynecology at University College London.

"A genital examination in teenagers could detect those with short vaginal lengths who are at risk for penetration problems or vaginal tears during intercourse. Most of them would probably not be offered surgery at that point, but they could be given psychological counseling and dilators for when they feel ready to use them," she said in an interview with this newspaper.

Vaginal length is variable in CAIS, but it's believed that a length under 5-6 cm causes problems with penetration. Some women with CAIS have a nearly absent vagina (around 2 cm), which makes vaginal penetration impossible. Some women also have sustained vaginal tears during first intercourse which, in rare cases, can cause life-threatening hemorrhage, Dr. Minto said.

Sexual intercourse and dilator use can lengthen the vagina. Surgical lengthening is usually reserved for those women with very short, nearly absent vaginas.

In Dr. Minto's study, the areas of abnormal sexual functioning that were the most pronounced for patients included infrequency of sexual activity (67%), vaginismus (58%), and noncommunication with their partners about their sexual activity (50%).

Among the 21 CAIS patients who underwent a gynecologic examination, 79% felt they had an abnormal vagina, 48% felt their sex partner would notice their abnormal vagina, and 63% felt they had a short or absent vagina.

Seventeen of the 21 women (81%) had vaginal hypoplasia, defined as a vagina less than 10 cm in length.

"Part of the treatment is to be honest and open with girls about their anatomy so that they are informed and can choose treatments if they want.

"Many of them also don't even have a clear idea of what is normal vaginal anatomy let alone abnormal," she commented.

This kind of education and counseling may help to minimize some of the psychological aspects that can contribute to sexual dysfunction, such as poor body image and worrying about a sexual partner's reaction.

Girls with CAIS are sometimes diagnosed when an inguinal hernia is found to contain a testis, or occasionally these girls might be diagnosed before puberty if they happen to have a sister who also has the condition.

In Dr. Minto's study, 46% of the women presented with absent periods, 34% presented with hernias (average age 3.3 years), and 15% had a family history of the disorder.

COPYRIGHT 2001 International Medical News Group
COPYRIGHT 2001 Gale Group