I. Disorders of Gonadal Differentiation
Gonadal dysgenesis 6.5/1000 live births
Turner (45,X) 0.2/1000
Klinefelter (XXY, XXXY, etc) 0.5/1000
47,XXX 1/1000
46,XY complete gonadal dysgenesis ???
46,XY partial gonadal dysgenesis ???
True hermaphroditism 0.015/1000
(ovo-testes or ovary plus testis)
II. Female pseudohermaphroditism
Congenital adrenal hyperplasia 0.05/1000
Synthetic progestins ???
(caused by administration of hormones
to pregnant women; masculinizes female
fetus' genitals)
Other teratological factors ???
III. Male pseudohermaphroditism
Errors of testosterone synthesis ???
Defects in androgen-dependent target tissues 5
(androgen resistance)
Defects in metabolism of mullerian inhibiting ???
hormone
Other (chromosomal mosaicisms, XX males, etc.) 1.87
IV. Unclassified
Hypospadias 3.33/1000 males
(penile urethra not completely closed)
Agenesis of various mullerian structures ???/1000 females
(absent uterus, etc)
Microphallus 0.02
Adult cryptorchism 0.28
(testes remain undescended)
Total (as % of male or female births) 1.7 %
What sorts of ongoing medical problems do
intersexuals have?
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.
Hormone replacement therapy and osteoporosis
Sex hormones (principally testosterone or estrogen) are necessary to maintain healthy adult bones. Persons born without functioning gonads, or whose gonads have been removed,
should be under an endocrinologist's care and should maintain hormone replacement therapy
for life.
Many intersexuals, having developed a distrust or aversion for medical people, avoid medical care and drop hormone replacement therapy which was prescribed during puberty. This can result in extreme osteoporosis (brittle bones). Osteoporosis worsens silently, but at advanced stages it can destroy your quality of life. Persons with advanced osteoporosis are vulnerable to frequent bone fractures, especially of the spine, hip, and wrist. These fractures can be caused by a small amount of force, and are extremely painful and debilitating. Each spine fracture may put you flat on your back for one to two months.
If you have been without gonads or hormone replacement therapy for years, it is vital to get a bone density scan performed, to evaluate the condition of your bones (a simple, non-invasive procedure using a specialized x-ray machine), and to seek the advice of an endocrinologist in order to establish a regimen of hormone replacement therapy that works for you. If you have had bad experience in the past with hormones, we encourage you to find an endocrinologist who will work with you to adjust the mix and schedule of hormones until you find what works. If your bone density is low, your endocrinologist will probably recommend calcium supplements and weight-bearing exercise (not swimming!) to maintain density.
If your bone density scan is performed on a DEXA machine, make certain to do any follow-up scans on the same machine, and with the same reader.
A number of drugs currently in the biomedical news may prove useful for rebuilding lost bonedensity. If your bone density is low, check in with a qualified specialist regularly for the latestinformation.
The danger of osteoporosis is considerably worse for intersexuals than for post-menopausal women, because the intersexual will be without hormones for many decades. Do not disregard this danger!
The preceding article was researched by ISNA and is used with permission of the author.
ALL RIGHTS RESERVED