What is Adrenal Hyperplasia?

Adrenal Hyperplasia is the most prevalent cause of intersexuality amongst XX people with a frequency of about 1 in 20000 births. It is caused when an anomoly of adrenal function (usually 21-hydroxylase or 11-hydroxylase deficiency) causes the synthesis and excretion an androgen precursor, initiating virilization of a XX person in-utero. Because the virilization originates metabolically, masculinizing effects continue after birth.

As in progestin induced virilization, sex phenotype varies along the same continuum, with the possible added complication of metabolic problems which upset serum sodium balance. The metabolic effects of CAH can be counteracted with cortisone. The scenario for medical intervention for intersex is similar... but CAH people have an increased likelihood of early detection due to metabolic imbalances (Salt Losing Form). The long term use of cortisone itself produces significant dependance and other side effects, all of which need to be explained honestly and openly.

What is Klinefelter syndrome?

Most men inherit a single X chromosome from their mother, and a single Y chromosome from their father. Men with klinefelter syndrome inherit an extra X chromosomes from either father or mother; their karyotype is 47 XXY. Klinefelter is quite common, occuring in 1/500 to 1/1,000 male births.

The effects of klinefelter are quite variable, and many men with klinefelter are never diagnosed. The only characteristic that seems certain to be present is small, very firm testes, and an absence of sperm in the ejaculate, causing infertility. Except for small testes, men with klinefelter are born with normal male genitals. But their testes often produce lower than average quantities of testosterone, so they don't virilize (develop facial and body hair, muscles, deep voice, larger penis and testes) as strongly as other boys at puberty. Many also experience some gynecomastia (breast growth) at puberty.

Physicians recommend that boys with klinefelter be given testosterone at puberty, so that they will virilize in the same way as their peers, and that men with klinefelter continue to take testosterone thoughout their lives, in order to maintain a more masculine appearance and high libido. Many ISNA members, however, report that they do not like the effects of testosterone, and prefer to reduce their dosage, or not to take it at all.

Many ISNA members with klinefelter syndrome are homosexual, a few are transsexual, and nearly all experience their gender as quite different from other men. In contrast, medical literature tends to discount any connection between klinefelter syndrome and homosexuality or gender issues. We suspect that medical reassurances that "your son will not be gay" are based more on homophobia than on an accurate assessment of probabilities. Gay children deserve honesty and parental love and support!

What is hypospadias?

Hypospadias refers to a urethral meatus ("pee-hole") which is located along the underside, rather than at the tip of the penis. In minor, or distal hypospadias, the meatus may be located on the underside of the penis, in the glans. In more pronounced hypospadias, the urethra may be open from mid-shaft out to the glans, or the urethra may even be entirely absent, with the urine exiting the bladder behind the penis.

See Hypospadias: A parent's guide to surgery for a discussion of causes and treatment.

Is there a risk of gonadal tumors?

Dysgenetic testicular tissue (testicular tissue that has developed in an unusual way) is at risk of developing tumors, and not merely because it is undescended. That is, the risk persists even after successful orchiopexy (surgically bringing undescended testes down into scrotal sac).

Ovarian tissue in intersexuals is not generally the cause of intersexuality, is not dysgenetic, and does not appear to be at elevated risk of developing tumors.

Undescended testes in women with AIS are at risk of developing tumors.

There are certain gonadal and adrenal tumors which produce hormones and therefore intersexual expression. However, in this case the tumor causes the intersexuality; the intersexuality does not cause the tumor.

In general, the likelihood of gonadal tumors is small (~5%) before mid-twenties, and increases thereafter, with lifetime probabilities of 30% for partial or complete gonadal dysgenesis, and 10% for 46XY true hermaphroditism.

Gonadal tumors are less likely in cases of sex-reversal (46XX male, 46XX true hermaphrodite).

Testosterone replacement in men with dysgenetic testes may increase the probability of gonadal tumors developing.

To summarize,

Tumors are not likely in the absence of a Y chromosome (or Y genes involved in testicular determination, which may be present on the X chromosome in sex-reversal)

When there is a Y chromosome or Y genes are surmised to be present, the gonads are at elevated risk, and should be carefully monitored. Monitoring is easier to do if the gonads are brought down into the scrotum.

Because the risk is slight before early adulthood, gonadectomy should not be imposed on infants. It should be delayed until the patient can weigh the options and choose for her/himself. Functioning gonads, even partially functioning gonads, are a big advantage over hormone replacement therapy. The patient must be allowed to weigh the risks, talk with other patients about their experiences, and choose what is best for her/himself. Note, though, that it is critical to remove partially functioning testes before puberty from an intersexual who identifies as female and wishes her body not to virilize.

Much of this material (except the paragraph above!) comes from "Wilkins The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence 4th edition," ed Kappy, Blizzard and Migeon, Baltimore: Charles C. Thomas, 1994.