Intersexuality Frequently Asked Questions Table of Contents
© 2000 Intersex Society of North America
This document is reprinted from the original at http://www.isna.org/FAQ.html
You may wish to visit this original site if you have further interest in this topic.
- What is intersexuality (or hermaphroditism)?
- What is androgen insensitivity syndrome?
- Is there a test for androgen insensitivity syndrome?
- What is partial androgen insensitivity syndrome?
- What is Progestin Induced Virilization?
- What is Adrenal Hyperplasia?
- What is Klinefelter syndrome?
- What is hypospadias?
- What are the frequencies of intersex conditions?
- Is there a risk of gonadal tumors?
- Hormone replacement therapy and osteoporosis
- Where can I read some of the earliest first person writings of medicalized intersexuals?
- Where can I read some of the earliest deconstructions of the medical viewpoint?
Additional FAQS include:
Our culture conceives sex anatomy as a dichotomy: humans come in two sexes, conceived of as so different as to be nearly different species. However, developmental embryology, as well as the existence of intersexuals, proves this to be a cultural construction. Anatomic sex differentiation occurs on a male/female continuum, and there are several dimensions.
Genetic sex, or the organization of the "sex chromosomes," is commonly thought to be isomorphic to some idea of "true sex." However, something like 1/500 of the population have a karyotype other than XX or XY. Since genetic testing was instituted for women in the Olympic Games, a number of women have been disqualified as "not women," after winning. However, none of the disqualified women is a man; all have atypical karyotypes, and one gave birth to a healthy child after having been disqualified.
The sex chromosomes determine the differentiation of the gonads into ovaries, testes, ovo-testes, or nonfunctioning streaks. The hormones produced by the fetal gonads determine the differentiation of the external genitalia into male, female, or intermediate (intersexual) morphology. Genitals develop from a common precursor, and therefore intermediate morphology is common, but the popular idea of "two sets" of genitals (male and female) is not possible. Intersexual genitals may look nearly female, with a large clitoris, or with some degree of posterior labial fusion. They may look nearly male, with a small penis, or with hypospadias. They may be truly "right in the middle," with a phallus that can be considered either a large clitoris or a small penis, with a structure that might be a split, empty scrotum, or outer labia, and with a small vagina that opens into the urethra rather than into the perineum.
Androgen Insensitivity Syndrome, or AIS, is a genetic condition, inherited (except for occasional spontaneous mutations), occurring in approximately 1 in 20,000 individuals. In an individual with complete AIS, the body's cells are unable to respond to androgen, or "male" hormones. ("Male" hormones is an unfortunate term, since these hormones are ordinarily present and active in both males and females.) Some individuals have partial androgen insensitivity.
In an individual with complete AIS and karyotype 46 XY, testes develop during gestation. The fetal testes produce mullerian inhibiting hormone (MIH) and testosterone. As in typical male fetuses, the MIH causes the fetal mullerian ducts to regress, so the fetus lacks uterus, fallopian tubes, and cervix plus upper part of vagina. However, because cells fail to respond to testosterone, the genitals differentiate in the female, rather than the male pattern, and Wolffian structures (epididymis, vas deferens, and seminal vessicles) are absent.
The newborn AIS infant has genitals of normal female appearance, undescended or partially descended testes, and usually a short vagina with no cervix. Occasionally the vagina is nearly absent. AIS individuals are clearly women. At puberty, the estrogen produced by the testes produces breast growth, though it may be late. She does not menstruate, and is not fertile. Most AIS women have no pubic or underarm hair, but some have sparse hair.
When an AIS girl is diagnosed during infancy, physicians often perform surgery to remove her undescended testes. Although removal of testes is advisable, because of the risk of cancer, ISNA advocates that surgery be offered later, when the girl can choose for herself. Testicular cancer is rare before puberty.
Vaginoplasty surgery is frequently performed on AIS infants or girls to increase the size of the vagina, so that she can engage in penetrative intercourse with a partner with an average size penis. Vaginoplasty surgery is problematic, with many failures. ISNA advocates against vaginal surgery on infants. Such surgery should be offered to, not imposed on, the pubertal girl, and she should have an opportunity to speak with adult AIS women about their sexual experience and about surgery in order to make a fully informed decision. Not all AIS women will choose surgery.
Some women have successfully increased the depth of their vagina with a program of regular pressure dilation, using aids designed for that purpose. Contact the AIS Support Network.
Physicians and parents have been most reluctant to be honest with AIS girls and women about their condition, and this secrecy and stigma has unnecessarily increased the emotional burden of being different.
Because AIS is a genetic defect located on the X chromosome, it runs in families. Except for spontaneous mutations, the mother of an AIS individual is a carrier, and her XY children have a 1/2 chance of having AIS. Her XX children have a 1/2 chance of carrying the AIS gene. Most AIS women should be able to locate other AIS women among siblings or maternal relatives.
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.
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.
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.
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.
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!
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.
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.
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.
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 bone density. If your bone density is low, check in with a qualified specialist regularly for the latest information.
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!
Alvarado, Donna. "Intersex," West Magazine section of Sunday San Jose Mercury News, Jul 10, 1994.
Describes the life stories of Cheryl Chase and Morgan Holmes, based on personal interviews. Photos of Holmes. Opinions of intersex specialists Grumbach of UCSF and Gearhart of Hopkins (surgery is necessary to prevent parents from treating child as an outcast) are contrasted with personal experience of Chase and Holmes (surgery experienced as mutilation, causing sexual dysfunction). Anne Fausto-Sterling criticizes intersex specialists as unwilling to follow up patients to determine the outcome of their interventions.
"Once a dark secret," BMJ 1994; 308:542 (19 February).
A woman with XY karyotype and "testicular feminization" (androgen insensitivity syndrome) briefly relates how damaging she has found the secrecy surrounding her condition. "Mine was a dark secret kept from all outside the medical profession (family included) but this is not an option because it both increases the feelings of freakishness and reinforces the sense of isolation. It also neglects the need for the counselling of siblings."
"Gender identity in testicular feminization," BMJ 1994; 308:1041 (16 April).
This letter responds to "Once a dark secret" in the 19 Feb issue. The author discusses the issue of gender identity, criticizes the secrecy and the labeling of women with complete androgen insensitivity as "male" or "hermaphrodite."
"Be open and honest with sufferers," BMJ 1994 308:1042 (16 April).
The author of this letter has also been subjected to secrecy surrounding her androgen insensitivity. This secrecy produced a "lifetime of unnecessary secrecy, shame, delayed action, and great damage to my personal and sexual identity and self esteem."
Holmes, Morgan. See entries under "Where can I read deconstructions of the medical viewpoint?"
Horowitz, Sarah. "Both and Neither," SF Weekly, February 1, 1995.
For generations, doctors have been "fixing" babies born with ambiguous genitals. Now adult "intersexuals" wonder if their true identities have been surgically mutilated. The article doesn't take sides, and plays the "expert" doctors' opinions against our opinions. Needless to say, the doctors insist that no one can be allowed to remain intersexual, and we (Cheryl, Morgan, and David) assert that we are intersexual, and that we have been harmed by medicalization. Anne Fausto-Sterling takes our side, and Suzanne Kessler is "sympathetic" with ISNA's goals, but cautions that what doctors are doing is enforcing a cultural mandate, and that doctors are not likely to participate in a revolution.
Alice Dreger, Harvard University Press. Hermaphrodites and the Medical Invention of Sex available from Amazon.com.
Alice Dreger, Assistant Professor of Science and Technology Studies at Michigan State University and adjunct faculty at the Center for Ethics and Humanities in the Life Sciences, brings us this study of how and why medical and scientific men have construed sex, gender, and sexuality as they have. A 36 page long epilogue contains narratives of intersexuals treated according to the still-standard medical protocols developed in the 1950s and calls for change: "Surely, ...it will be familiarity rather than knowlege that finally takes away [intersexuals'] supposed 'strangeness.'"
Fausto-Sterling, Anne. "The Five Sexes: Why Male and Female are Not Enough," The Sciences, March/April 1993:20-24. Reprinted on New York Times Op-ed page, March 12, 1993. See also the Letters from Readers in the July/August 1993 issue.
Fausto-Sterling questions the medical dogma that, without medical intervention, hermaphrodites are doomed to a life of misery. What would be the psychological consequences of raising children as unabashed intersexuals? Imagine a society in which sexuality is celebrated for its subtleties and not feared or ridiculed. The author's acceptance of the Victorian classification of intersexuals as male, female, and true pseudo-hermaphrodites is unfortunate, as is her naivite about the success of surgical intervention.
Holmes, Morgan. "Re-membering a queer body," Undercurrents, May 1994: 11-13. Published by Faculty of Environmental Studies, York University, 4700 Keele St, North York, Ontario Canada M3J 1P3.
Ms Holmes, who was subjected during childhood to "clitoral recession" surgery which removed most of her clitoris, analyzes the cultural imperative to surgically alter intersexual children's genitals. "The medical definition of what female bodies do not have and must not have: a penis. Any body which does possess a penis must either be designated 'male' or surgically altered. ... In the minds of doctors, bodies are for procreation and heterosexual penetrative sex. ... I would have liked to have grown up in the body I was born with, to perhaps run rampant with a little physical gender terrorism instead of being restricted to this realm of paper and theory. Someone else made the decision of what and who I would always be before I even knew who and what I was."
Holmes, Morgan. "Medical Politics and Cultural Imperatives: Intersexuality Beyond Pathology and Erasure," Master's Thesis, Interdisciplinary Studies, York University, September 1994.
Kessler, Suzanne. "The Medical Construction of Gender: Case Management of Intersexed Infants." Signs: Journal of Women in Culture and Society, 16(1) (1990):3-26.
Ms Kessler interviewed six medical specialists in pediatric intersexuality to produce an account of the medical decision making process. She describes the processes by which cultural assumptions about sexuality in effect supersede objective criteria for gender assignment. Kessler concludes that the key factor in making a decision is whether or not the infant has a "viable" penis.
Lee, Ellen Hyun-Ju. "Producing Sex: An Interdisciplinary Perspective on Sex Assignment Decisions for Intersexuals," Senior Thesis, Human Biology: Race and Gender, Brown University, April 1994.
Ms Lee ananalyzes medical literature for clinical recommendations concerning the diagnosis and treatment of intersexed infants, while invoking deconstructive feminist theory to critique the medical "management" of ambiguous genitalia. Her interdisciplinary approach places intersexuality within a broader discourse of sex and gender, disputing the binary male/female opposition as a social construction. Especially valuable is her transcription of an interview with "Dr Y," an intersex specialist/clinician who acceded to be interviewed about gender assignment only under the condition that his identity be disguised.
Last Updated: 14 March 2016
Reviewed by Harry Croft, MD