Is there a test for androgen insensitivity syndrome?

The answer depends upon exactly what you are looking for--diagnostic information, or carrier status. If were born with female genitals and testes, and have very sparse or absent pubic hair, you most likely have complete AIS. If you were born with ambiguous genitals and testes, there are a number of possible etiologies, including partial AIS.

Testing for partial AIS is more problematic than the complete form. Hormonal tests in a newborn with 46 XY karyotype and ambiguous genitals will show normal to elevated testosterone and LH, and a normal ratio of testosterone to DHT. A family history of ambiguous genitals in maternal relatives suggests partial androgen insensitivity.

If you are wondering if you are a carrier, or if you know that you are a carrier and are wondering about the status of your fetus, genetic testing is possible. AIS has been diagnosed as early as 9-12 weeks gestation by chorionic villus sampling (sampling tissue from the fetal side of the placenta). By the 16th week it can be detected by ultrasound and amniocentesis. However, prenatal diagnosis is not indicated unless there is a family history of AIS.

See the following for details of testing.

Hodgins M. B., Duke E. M., Ring D.: Carrier detection in the testicular feminization syndrome: deficient 5 alpha-dihydrotestosterone binding in cultured skin fibroblasts from the mothers of patients with complete androgen insensitivity. J. Med. Genet. Jun 1984, 21, (3), p178-81.

Batch J. A., Davies H. R., Evans B. A. J., Hughes I. A., Patterson M. N.: Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome. Arch. Dis. Childh. 1993; 68: 453-457.

What is partial androgen insensitivity syndrome?

The extent of androgen insensitivity in 46 XY individuals is quite variable, even in a single family. Partial androgen insensitivity typically results in "ambiguous genitalia." The clitoris is large or, alternatively, the penis is small and hypospadic (these are two ways of labeling the same anatomical structure). Partial androgen insensitivity may be quite common, and has been suggested as the cause of infertility in many men whose genitals are of typically male appearance.

Individuals with ambiguous genitals have typically been subjected to "corrective" surgery during infancy. Based on our own painful experiences, ISNA believes that such cosmetic surgery of the genitals is harmful and unethical. Surgery is justified only when it is necessary for the health and well-being of the child. Surgery which is intended to make the genitals appear more male or more female should be offered, but not imposed, only when the child is old enough to make an informed decision for her/himself.

What is Progestin Induced Virilization?

Caused by prenatal exposure to exogenous androgens, most commonly progestin. Progestin is a drug which was administered to prevent miscarriage in the 50's and 60's and it is converted to an androgen (virilizing hormone) by the prenatal XX persons metabolism. If the timing is right, the genitals are virilized with effects ranging from enlarged clitoris to the development of a complete phallus and the fusing of the labia. In all cases ovaries and uterus or uterine tract are present, though in extreme cases of virilization there is no vagina or cervix, the uterine tract being connected to the upper portion of the urethra internally. The virilization only occurs prenatally and the endocrinological functionality is unchanged, ie. feminizing puberty occurs due to normally functioning ovaries.

In other words, XX people affected in-utero by virilizing hormones can be born into a continuum of sex phenotype which ranges from "female with larger clitoris" to "male with no testes". It is noteworthy that the use of progestin is not effective in the prevention of miscarriage.

Progestin androgenized children are subjected to the same surgically enforced standards of cosmetic genital normalcy as other intersexed children... meaning that clitoridectomy and possibly more extensive procedures are often performed early in life, most often with the effect of loss of erotic sensation and ensueing psychological trauma. ISNA believes that this surgery is unneccessary, cosmetic and primarily "cultural" in its significance. It is of no benefit to the child, who suffers even more from the stigma and shame of having been surgically altered than she would have had her non-standard genitals been allowed to remain intact.

Occasionally a female neonate will be so genitally virilized that she is given a male identity at birth and raised as a boy. It is important not to hide the circumstances of her biology from such a child, in order to the avoid shame, stigma and confusion which results from secrecy. After the onset of puberty the child may want to explore the option, hopefully with the aid of loving parents and peer counseling, of having surgery to allow expression of either female or male sexuality. This is not a choice that should be forced prematurely, it is a personal choice to be made by a teenager about his/her body and about her/his choice of sexual identity and sexuality.