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| Gender
Identity Disorder Information |
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INTERSEX CONDITIONS
Intersexuality (abbreviated IS) is a broad class of medical conditions that features "congenital anomalies of the reproductive and sexual system." A person with an intersex condition is born with sex chromosomes, external genitalia, or an internal reproductive system that is not considered "normal" for either a male or female. The causes and presentations of intersex conditions vary greatly. There are environmental factors, genetic factors, and developmental factors and the effects of them on a developing child range from "nothing apparent" to "obvious at birth." Those conditions that are obvious at birth garner the most attention from the medical community, while there are people who are intersexed who may be so mildly affected they will never be clinically identified. Most of the birth disorders that are classified as "intersex conditions" are treated as "unusual," and it is not uncommon to find them listed among "rare diseases." The general public - even many doctors - have no familiarity with intersex conditions or people. At best an individual may have heard of the now out of favor term "hermaphrodite" (taken to mean someone with both male and female genitals). Which is ironic, because people who used to be called "true hermaphrodites" are among the rarest of all intersex conditions. For the most part, though, schools usually omit any mention of intersex conditions in biology, health, or sex educations classes. This is unfortunate because intersex conditions are actually NOT rare! Some intersex conditions are among the most common birth disorders in the world - collectively the total number of people whose bodies differ from standard male or female affects as many as 1 out of every 100 people! So why haven't you heard of intersexuality? Good question. It is certainly a major oversight on the part of society and educators to omit mention of it. IS and GID Because the physical sex of intersexed people is often ambiguous, parents and doctors usually "choose" whether the child will be identified and reared as either male or female. As there is no way to know a newborn's gender identity these decisions are often made somewhat arbitrarily. If the child doesn't have a penis the bias is toward raising the child as a girl simply because "assignment surgery" to configure the child as female is simpler and more advanced than surgical techniques to construct external male genitals. Conversely, in cases where the child has a penis the bias is toward raising the child as a male (unless the doctor judges that it is "too small"). Children born with what doctors judge to be an enlarged clitoris are also sometimes assigned as males. A recent study from Johns Hopkins University led to their recommendation that children born with a condition called "micropenis" (where the penis fails to grow for the final two-thirds of the embryo's development) be reared as males. The report claimed that 20% of those raised as girls were satisfied with their surgically constructed vaginas, while 50% of those raised as men were satisfied with their male genitals after testosterone hormone therapy. However the study found that those raised male considered themselves masculine and those raised female considered themselves feminine. Intersex activists like to point out that these studies are often biased or use very small test groups to determine medical and surgical policy where intersexed children are concerned. In this particular instance the test base consisted of just 16 people, now adults, who were diagnosed with micropenis as babies. 12 were raised as males, 4 as females. [source]. Another study on the same topic, conducted after the Johns-Hopkins one but by other researcher using Johns Hopkins former patients, found surprisingly different results (and also appeared to have much greater success in getting intersex people to respond, possibly owing to the many negative experiences with Johns Hopkins that have been reported in the Intersex Community). The results of that study found:
For more information on the subject of surgical assignments from the intersexed perspective you may wish to visit the Intersex Society of North America web site. The result of this practice of choosing a sex shortly after birth has been that, inevitably, for some of the children the sex the doctors and/or parents chose was not in sync with the child's gender identity. If that is the case, the intersexed person is in the same position as anyone who has a physical sex that is incongruous with gender identity. In other words, they have a Gender Identity Disorder. A person need not be intersexed to have a Gender Identity Disorder, and not everyone with GID is intersexed. For some intersexed children the assigned sex happens to be in sync with their gender identity, in which case they do not have a gender-related conflict. The same can be said of those who are not born intersexed, the only difference being that it was Nature that "assigned" their sex, not a doctor. TYPES OF INTERSEXUALITY TRADITIONAL INTERSEX CLASSIFICATIONS I mention these old medical terms, rooted in Victorian-era medicine, because they are still pervasive in the definitions used by modern medicine. Intersex conditions traditionally have been divided into the following 5 simplified classifications based on the differentiation of the gonad:
These classifications are based solely on the physical state of the gonads. They do not take into account the individual's endocrinology, genetic makeup, or embryological development. And, because many different intersex conditions can produce a child of similar appearance, these terms do little for the purpose of diagnosing cause. Furthermore, it is often left to the doctor to decide if the child with ambiguous genitalia has a small penis or an enlarged clitoris. Modern medicine obviously needs to go beyond this trivial visual examination for any meaningful diagnosis. MODERN INTERSEX CLASSIFICATIONS There are literally hundreds of specific forms of intersexuality covered under the term. Sometimes intersex conditions are subcategorized by possible cause or presentation: Chromosomally Intersexed - probably the most common form of intersexuality involves people who are either missing a sex chromosome or have extra sex chromosomes. The effects of such a condition vary widely. Some people show no outward signs of being intersexed while in others it is apparent at birth. Genetically Intersexed - technically would encompass "chromosomally intersexed" people too. However it usually refers to individuals who have normal chromosomal makeup (XX or XY) but have a faulty gene on one of those chromosomes resulting in an intersex condition. Physically Intersexed - the person has physical characteristics of both male and female. Usually this refers to a person with "ambiguous genitalia" (genitals that do not appear to be "normally" male or female). However it is also sometimes used to refer to anyone with a genetic or chromosomal cause, since those are physical characteristics as well, albeit at the molecular level. This term also encompasses those who present with ambiguous genitalia caused by developmental anomolies in the womb of environmental (termed "Iatrogenic"), rather than genetic, cause. OVERVIEWS OF INTERSEX CONDITIONS Ovatestis - formerly referred to as "true hermaphroditism." People with Ovatestis are individuals who have both ovarian and testicular tissue. Please note that this does not mean the person has both male and female genitalia! This diagnostic nomenclature is applied regardless of the peripheral karyotype. Technically, the anachronistic term "True Hermaphrodite" is still in use to refer to those withouth gonads that are ovoteste, but have separate organs, with an ovary on one side and a testis or ovotestis on the other. Additionally, testicular and ovarian tissue may develop on the same side of the pelvis as a separate ovary and testis. These gonads are almost always contained within the abdomen at the positions of ovaries in women, but ovatestes that descend from that position are not unheard of. People with Ovatestis usually have ambiguous genitalia at birth, but how ambiguous is highly individual. The majority of affected individuals have been reared as males. However, because of functioning normal ovarian tissue, most people with this problem experience breast development at puberty, and 40% with a 46,XX karyotype menstruate. Note that some people with this condition are chromosomally mosaic (see below) but, because karyotyping tests can be inaccurate in cases of mosaicism, they may "officially" be delcared to be XX or XY. The author of this site is personally aware of at least one individual who was tested as being of a male karyotype (XY) and appeared to have underdeveloped, but complete, male genitals. Nonetheless, medical imaging uncovered the presence of an ovary and partially developed uterus. There was also a Urological medical journal (cited elsewhere on this site) concerning an otherwise "normal male" who presented with blood in his urine. An ultrasound and MRI confirmed the presence of a partially developed vagina and uterus; as well as chromosomal anomolies. In some of these cases of of chromosomal mosaicism and the presence in one individual of organs of both sexes (or combined organs of both sexes) I've read the cause postulated to have been the absorbtion of an opposite sex fraternal twin in the womb, but there is no way of verifying if this theory is correct. While this birth condition accounts for less than 10% of all intersex diagnoses it is, ironically, the most widely known intersex condition among the general population.
Hypospadias This is a congenital abnormality in the development of male genitals whereby there is a urethral opening in the penis, sometimes extending down the shaft so that urine exits at the base of the penis instead of the tip.
Sex Chromosome Mosaicism " Mosaicism," simply put, is a genetic condition in which a person has either more or less than 46 chromosomes in at least some of their cells. Most people are unaware that such a condition is even possible, let alone relatively common.
It should be noted, however, that "It seems likely everyone has some small number of cells in their body which are chromosomally abnormal. However, even a very minor degree of mosaicism could be important if a crucial tissue carries the abnormal cells." [source] In fact, according to a recent article in Nature, research on nerve cells in the brain has found they appear to naturally gain and lose chromosomes over time. Why they do so is still a mystery. The following conditions are all capable of having a "full version" or a "mosaic variation." Klinefelter Syndrome (XXY Syndrome) This is a chromosomal abnormality affecting males whereby they have sex chromosome makeup of XXY instead of just XY (referred to as 47,XXY). The extra X chromosome defines the condition, but there are also physical and hormonal characteristics. Body shape is usually described as "pear like." Most develop gynecomastia in puberty (male breasts), have underdeveloped testes of less than 14ml in volume, and lack development of normal male secondary sexual characteristics. Developmental delays and learning disabilities are sometimes present, though more recent studies have found nearly as many "hyper intelligent" people with Klinefelter Syndrome so the earlier data was most likely incorrect. 70% of Klinefelters males are sterile (though it is believed the 30% who are capable of spermatogenesis may actually be "mosaics" and not Klinefelter males).
Turner Syndrome (45, X): This is a chromosomal abnormality affecting females where they do not have 46 chromosomes, but instead have 45 with only a single X chromosome. Sometimes it is stated as an XO karyotyope (the "O" meaning there is no paired chromosome to the existing X). Turner's girls tend to have broadly spaced nipples and a generally flatter chest or no breast development (sometimes called a "shield chest"). Their waist tends to be wide and arms and legs are short in relation to the torso. Overall stature is usually quite short at less than 5 feet tall. Turner girls' faces are usually triangular in shape with a low hairline. There is minimal body hair distribution and genitals are usually also underdeveloped. Ovarian failure at puberty and sterility are also common. Approximately 15% of fetuses with Turner Syndrome spontaneously abort. In some cases the person might have 46 chromosomes, but the second X chromosome has no "short arm" called "Xp deletion." There is another variation called 45, X/46, XY Mosaicism where the individual has some cells that are of the Turner Syndrome karyotype and others that are of a male chromosomal makeup. In those cases the child may actually have undescended testes instead of ovaries.
Triplo X (47, XXX): This is a condition affecting females, sometimes also called "hypofemale" or "super female." The physical manifestations of Triplo X are that the woman will usually have larger than average breasts with wider spaced nipples, a narrow (wasp) waist, wider hips than average, and a height of usually more than six feet. Some girls are also born with a "webbed neck" that is easily surgically corrected. This body type is sometimes describes as "Vampira" (the 1950's late night horror movie hostess) or, more recently, like that of the cartoon character Jessica Rabbit from the movie "Who Framed Roger Rabbit." By most standards Triplo X females are quite attractive, proving that a genetic/chromosomal abnormality need not be considered a "deformity." However, learning disabilities or developmental delays are not uncommon.
Diplo Y (47, XYY): Also sometimes called "Double Y" and "Polysomny Y." This is a condition affecting males who have an extra Y chromosome. Physical characteristics are often indistinguishable from an 46, XY male, though it is not uncommon for those with XYY karyotypes to be even more masculine than their average XY counterparts. Low, wide waists; narrow hips; broad, flat chest; wide shoulders; high hairlines; prevalent facial and body hair; and testes of more than 25ml in volume. It is also not uncommon for XYY males to have elevated testosterone levels responsible for the increased virilization they exhibit. There is a popular belief that the extra Y chromosome predisposes these men to become criminals via aggression or sexual predation. There is no scientific evidence to justify the belief that XYY males are any more prone to criminal behavior than the general population.
NOTE: Triplo X and Diplo Y sex chromosome disorders are not generally considered "intersex conditions" since there is no "mixing" of female and male characteristics, but rather a exaggeration of female or male characteristics, respectively. They are mostly mentioned here because "mosaic versions" of them do exist and to illustrate the diversity of human sex chromosome combinations. GENETIC ERRORS 46, XX Male (Sex Reversal Syndrome): This is a chromosomal variation that is sometimes mistaken, initially, for Klinefelter Syndrome. People with this problem have a fragment of a Y chromosome with the "SRY testicular determining factor" translocated in their system. This causes the otherwise genetic female to develop physically as a male. 15% of those with this problem have undescended testes, 10% exhibit hypospadias. Generally 46, XX Males are shorter than Klinefelter males, but similarly display a lack of spermatogenisis (frequency unknown). [source: The Andrology Handbook, American Society of Andrology 1995. full text] Figures for occurrence vary. One study cited that 1 in 5000 births has "full sex reversal," with "partial sex reversal" accounting for 1 in 1000 births. [source: Reaney, Patricia "Gene for human sex reversal syndrome identified," February 18, 1998 Reuters] Another source claims incidence is 1 in 20,000 births and that the cause can be attributed to:
[source: "Sex Reversal," Clinical Molecular Genetics Society (U.K.), January 2000. full text]
AIS (46, XY Female): Until about 10 weeks of development in the womb, male and female embryos appear identical in external anatomy. the same structures then begin to differentiate as male under the influence of testosterone, or as female if the influence of testosterone is absent. In the presence of intermediate amounts of androgens - or partial insensitivity to the effects - the external genitals may develop in an "in-between" way. Androgen Insensitivity Syndrome is often abbreviated as AIS and is caused by a genetic error in the Androgen Recptor (AR) gene on the X chromosome. People with AIS have a male karyotype of 46, XY but may not develop a male phenotype. There are two general categories for the "complete" and "partial" versions of AIS:
Definitive diagnosis is made by physical examination, internal scans, a chromosomal karyotyping, hormone testing, and genetic testing for a faulty AR gene on the X chromosome (called "mutation gene analysis) which is considered 95% accurate in detecting both CAIS and PAIS from buccal swabs. The genetic testing is slow (6 weeks or more) and expensive (not covered by most insurances).
5-Alpha Reductase Deficiency (5-ARD)- also known as "familial incomplete male pseudohermaphroditism type 2" and "pseudovaginal perineoscrotal hypospadias." It is an recessive genetic error resulting in the inability to convert testosterone into dihydrotestosterone (DHT). Since DHT is required for the normal masculinization of the external genitalia in utero, genetic males with 5-ARD are born with ambiguous genitalia (ie, male pseudohermaphroditism). In other words, the person may appear to physically be male, female, underdeveloped as either, or a mixture of both. Effects range from infertility with normal male genital anatomy to underdeveloped male with hypospadias to predominantly female external genitalia. There is no uterus or fallopian tubes. Testes are intact, as are other male reproductive structures. Male internal ducts are present but may terminate in a blind pseudovaginal pouch. An underdeveloped prostate may be present, regardless of the appearance of the external genitalia. Two genes coding for 5-alpha-reductase have been identified, each for a slightly different isoenzyme. The gene for 5-alpha-reductase type 1 has been determined to be on chromosome 5. Its product is expressed only in nongenital skin and liver at low levels from the time the individual is aged 3 years to puberty, at which time enzyme expression is measurable in sebaceous glands and scalp. Linkage analysis has demonstrated that the type 1 enzyme is unrelated to the clinical syndrome of 5-ARD. The other isoenzyme, 5-alpha reductase type 2, determined on chromosome 2, correlates with clinical symptoms. It is expressed in high levels in the prostate and other androgen-sensitive tissues. Interestingly, partial virilization of males with 5-ARD occurs at puberty and may be attributable to the rise in type 1 enzyme activity at that time. More than 20 different mutations of this gene have been reported in people with clinical and biochemical evidence of the enzyme deficiency. The presentation of symptoms by most people is variable, even within the same family.
Congenital Adrenal Hyperplasia (CAH) - The term congenital adrenal hyperplasia encompasses several autosomal (single chromosome) recessive disorders that share complete or partial deficiency of an enzyme involved in cortisol or aldosterone synthesis. [only the CYP21, CYP17, and StAR forms of CAH are discussed below] All disorders of this group share the common feature of a deficiency or relative defect in cortisol or aldosterone synthesis resulting in some degree of cortisol or aldosterone deficiency, or both. The phenotype (whether the person looks male or female) depends on which particular protein is affected and the severity of the mutation or degree of deletion of the particular gene encoding for the protein involved in steroidogenesis. The appearance of people with CAH can vary from no apparent effect (clinically referred to as occult or cryptic adrenal hyperplasia) to a mild form that becomes obvious during adolescence or adulthood (nonclassic adrenal hyperplasia), to severe forms diagnosed in infancy, with or without virilization and salt wasting (classic adrenal hyperplasia). CAH activity is generally divided clinically into a simple virilizing (masculinizing) form and a salt-wasting form. Females with some forms of CAH have ambiguous genitalia at birth (classic virilizing adrenal hyperplasia) or become virilized in later childhood (simple virilizing adrenal hyperplasia) or in adolescence and adulthood (nonclassic virilizing adrenal hyperplasia). Males with the "CYP21" form of CAH are not generally identified as infants because their genitalia appear normal. If the chromosomal defect is severe, resulting in salt wasting, these male infants are seen at 1-4 weeks of age because of failure to thrive, recurrent vomiting, dehydration, and shock. Some male infants are initially misdiagnosed with gastroenteritis or pyloric stenosis. If not diagnosed in infancy, they are often diagnosed in later childhood because of early pubic hair and/or phallic enlargement accompanied by accelerated linear growth and advancement of skeletal maturation. Males with "CYP17" deficiency generally have ambiguous genitalia or female genitalia because of inadequate testosterone production in the first trimester of fetal life. A female with "CYP17"
deficiency appears female at birth, but does not develop breasts or
menstruate in adolescence because of inadequate estradiol production. Sex phenotype, then, varies along the full continuum from "normal male" to "normal female," with the possible added complication of metabolic problems which upset serum sodium balance. The metabolic effects of CAH can be counteracted with cortisone.
ENVIRONMENTAL (NON-GENETIC) Progestin Induced Virilization (PIV) - Progestin is a drug which was administered to pregnant women in the 1950's and 1960's and is converted to an androgen by the prenatal XX fetuses' metabolism. Sometimes the genitals of fetuses affected by progestin 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 feminizing puberty occurs due to normally functioning ovaries.
DES Exposure - DES is a synthetic estrogen that was given to millions of pregnant women between 1937 and 1971 because the medical profession believed it would help prevent miscarriage and insure a healthy full term pregnancy. A 1957 advertisement claimed desPLEX® would "prevent ABORTION, MISCARRIAGE and PREMATURE LABOR…recommended for routine prophylaxis in ALL pregnancies…" This was only one of numerous brand names that DES (diethystilbestrol) was sold under. DES did not work. In fact, the unfortunate use of this drug has resulted in severe risks and consequences to the health of many of the women who took the drug, as well, the daughters and sons whom they bore.
Environmental Estrogen Exposure - Although DES is no longer given to pregnant women, a new problem has been identified. There are a number of industrial chemicals and pesticides like DDT and PCBs that mimic estrogenic activity (called pseudo-estrogens). Many of these chemicals, although either discontinued or restricted in use, have found their way into the ecosystem. There is a growing body of evidence concerning how these "environmental estrogens" feminize the male reproductive systems across almost all species exposed to them - including human beings. Obviously those exposed to these chemicals in utero or after birth are at risk, though the effects are far more pronounced on a developing fetus than on an adult.
ADDITIONAL NOTES: ON THIS LIST - This list of Intersex Conditions is far from comprehensive. There are simply too many variations, causes, and presentations to create a complete catalog of them on this site. For more detailed information click on the "More information" links following each condition. It should be pretty obvious that anyone who taught you that men have a penis and testicles and XY chromosomes and women have a vagina and ovaries and XX chromosomes, at best, oversimplified the diversity of biological sex. ON CITED FREQUENCIES - The prevalence of each condition listed may not reflect the true frequency of it in the general population. Estimated frequencies are based on diagnosed, recorded cases identified in a clinical setting. It is likely, especially for milder forms of each condition, that there is a significant portion of cases that are misdiangosed or go undiagnosed altogether. Frequencies are also affected by the databases and recording methodologies used, which vary widely from one locale to another. For example, the estimate for Androgen Insensitivity Syndrome at 1 in 20,000 comes from a Danish database of genetic anomolies. Denmark has a national healthcare system with standardized reporting to a government maintained database. And the number refers to all incidence of AIS without distinction of grade. The American prevalence of 1 in 60,000 is based on girls identified as having Complete Androgen Insensitivity Syndrome (grades 7 or 8) who were discovered during routine hernia operations. Until that point those girls were assumed to be genetic females. Partial Androgen Insensitivity Syndrome may be mild enough to go undiagnosed, or may be misdiagnosed as another problem. The Intersex Society of North America quotes a frequency of 1 in 130,000 for PAIS cases. However, that only represents those cases that were clinically identified. It is likely mild PAIS forms (especially grade 1) are quite common but are never clinically identified. The most comprehensive study of chromosomal anomolies, the National Institute of Child Health and Human Development (NICHD) multi-year study in the early 1970's of some 40,000 infants, found an incidence of 1 in 500 to 1 in 1000 for XXY karyotypes. Follow up studies of reported clinical identification of XXY conditions indicated that only about 2% of such people were ever formally diagnosed. This either indicates that, while XXY karyotypes are quite common adverse effects are relatively rare, or doctors are overlooking or misdiagnosing the conditions, or the bulk of people with XXY karyotypes never present themselves to a doctor. |