Complete Androgen Insensitivity Syndrome example essay topic

Most of us, when mentioned the term Hermaphrodite, often think of a sideshow act with a person displaying in lateral sides of their body a different gender. The truth is far from this and in many cases such individuals don't begin to display outward signs of this disorder until puberty. Others can even be undetectable to us, often passing off as the gender they were assigned by their doctors in their early childhood. Technological advances have allowed us to have more accuracy in the determination of the children born without a definite sex. Yet, the question persists is it a boy or a girl? Androgen Insensitivity Syndrome (AIS) is a genetic condition where the body's cells are unable to respond to androgen or "male" hormones (web).

This is a sex-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in chromosomal ly male individuals. All patients with AIS are genetically male (web) who display a karyotype of 46 XY, but there are certain degrees to the condition that determine whether the phenotype of an individual is male or female. It is not a disorder of the sex chromosomes, because the sex chromosomes of an AIS baby are normal. The problem lies in the Androgen Receptor (AR) gene on the X chromosome received from the mother which impedes the responsiveness or sensitivity to androgens.

Complete Androgen Insensitivity Syndrome (CAIS) is where the tissues are completely insensitive to androgens, Partial Androgen Insensitivity Syndrome (PAIS) where the tissues are partly sensitive to varying degrees, and Mild Androgen Insensitivity Syndrome (MAIS) where the tissue is sensitive to androgen in a lesser degree (web). All fetuses contain ambiguous genitalia during the first eight weeks after conception. In a normal XY fetus, non-specific genitals will grow into male genitalia under the influence of male hormones (androgens). In AIS, testes develop during gestation, but male genital development is incomplete due to the body's inability to use the androgens developed in the testes.

Masculinization is an active process; it needs the positive or active intervention of the male hormones in order to take place. The fetus will lack a uterus, fallopian tubes, and cervix plus upper part of the vagina. However, the lack of responsiveness to testosterone causes the epididymis, vas deferens, and seminal vesicles to be absent (web). This female physical development is not due to the presence and influence of estrogens but to the ineffectiveness of androgens. In other words, the inherent trend is for any fetus to develop female external genitals and general body form, in the absence of the masculinizing effects of male hormones (web). Newborn CAIS and most PAIS infants are born with genitalia of normal female appearance, un descended or partially descended testes, and usually a short vagina with no cervix.

The estrogen produced by the testes produces breast growth, but due to the lack of reproductive organs AIS women will not menstruate and therefore, are infertile. Most have sparse to no pubic or auxiliary hair and develop large breasts and juvenile nipples (web). Genes on the Y chromosome have an effect on growth that is not related to hormonal changes. Because all AIS women are XY, this causes them to have excessive height in relation to the normal female phenotype body form. They tend to be larger in all body measurements, although with a tendency to a slimmer body. The body shape in XY women is under the control of estrogens produced by the testes and is not affected by the Y chromosome.

.".. Older literature sometimes states that girls with AIS are often tall, that the body form is "voluptuously female", i.e. with very adequate breast development, and that the skin maintains a good condition, not being prone to acne (which is linked to the effects of male hormones) " (web). The body of most AIS women not only fails to develop masculinity but develops even further in a feminine direction, causing the body appearance to perfectly simulate an XX female. Although this condition is inherited, the degrees to which members of a family are affected can vary. Except for spontaneous mutations, the mother of an AIS individual is a carrier. XY children of a carrier have a 1/2 chance of having AIS and her XX children have a 1/2 chance of carrying the AIS gene.

There are various ways of detecting AIS. CAIS can be detected through the appearance of female genitals and testes, PAIS can be identified by the presence of ambiguous genitalia and hormonal testing. Testing for PAIS is more difficult than testing for CAIS. A 46 XY newborn will show elevated testosterone and LH, and a normal ratio of testosterone to DHT in Hormonal testing. A female carrier can be diagnosed as early as nine to twelve weeks gestation by chorionic villus sampling and by ultrasound and amniocentesis by the sixteenth week (web). Intersex conditions occur generally about one in two thousand births.

This is about the same frequency as multiple sclerosis or about half as often as Down's syndrome. While not common, intersex conditions are certainly not rare. Many parents concern themselves that an undetermined sex in their baby will create gender dysphoria (i.e. transsexualism), which regarded as a psychiatric condition, excludes those with biological intersex conditions. The most important factor for conditions such as AIS is to remember that "Health is a state of complete physical, mental and social well-being and not merely the absence of disease and infirmity" (web).