DEFINING SOME TERMS
Genital Anomalies: Synonyms and related keywords: abnormalities of the male and female external genitalia, penile agenesis, aphallia, penile duplication, diphallia, microphallus, micropenis, penile torsion, lateral penile curvature, penile deviation, penoscrotal transposition, webbed penis, buried penis, hidden penis, agenesis of the scrotum, congenital absence of the scrotum, ectopic scrotum, accessory scrotum, accessory perineal scrotum, splenogonadal fusion, labial adhesion, ectopic labium, ectopic labium majus, clitoral duplication, clitoral hypertrophy, interlabial masses, urethral prolapse, prolapsed ectopic ureterocele, hydrocolpos, hydrometrocolpos, sarcoma botryoides, rhabdomyosarcoma, periurethral cyst, persistent urogenital sinus, persistent cloaca
see http://www.emedicine.com/PED/topic2798.htm (not all considered intersex conditions; Labial adhesion, Ectopic Labium and clitoral duplication, Clitoral hypertrophy, interlabial masses, Persistent urogenital sinus and cloaca)
see 'Micropenis or Microphallus' this page
Gonadal intersex: (or "true hermaphrodite"): Rare condition in which the child has both ovarian and testicular tissue, either in separate gonads or as hybrid "ovotestes." Reproductive tracts, genital anatomy and gender identity are variable.
True hermaphroditism: requires the presence of both ovarian (female) and testicular (male) reproductive tissue and is relatively rare and poorly understood.
Although the exact incidence of intersexuality is uncertain, the intersexed constitute between one-tenth on one percent and four percent of the population. 1
Hermaphrodite: Old medical term for an intersexed person, given new life by some intersex activists.
Pseudohermaphroditism: is more common and from a medical standpoint hermaphroditism suggests two factors:
ambiguous external genitalia genitalia that may not match the genetic make-up of the person (example: female genitalia in an XY, genetically male, individual.)The following conditions can produce ambiguous genitalia and hermaphroditism:
congenital adrenal hyperplasia (CAH)fetal exposure to progestins (see progestins - oral) or androgens testicular feminization syndrome (AIS)XY gonadal dysgenesis XY gonadal agenesis chromosomal abnormalities cryptophthalmos Smith-Lemli-Opitz 4p syndrome 13q syndrome Mayer Rokitansky Kuster Hauser syndrome (MRKH)Ambiguous Genitalia:
A congenital physical abnormality where the outer genitals do not have the typical appearance of either sex.
Considerations: The genetic sex of a child is determined at conception. The egg cell (ovum) contains a chromosome called the X chromosome. Sperm cells contain either an X chromosome or one called the Y chromosome. These determine the child's genetic sex. Normally an infant will inherit ONE PAIR of these "sex chromosomes" (two chromosomes). Thus, it is the father who "determines" the genetic sex of the child. An infant who inherits the X chromosome from the father is a genetic female (XX pattern) and one who inherits the Y chromosome is a genetic male (XY pattern).
The reproductive organs and genitals associated with "female" or "male" arise from the same initial (fetal) tissue. If the process that causes this fetal tissue to become "male" or "female" is disrupted, ambiguous genitalia can develop.
Ambiguous genitalia are those in which it is difficult to classify the infant (by physical examination) as male or female. The extent of the ambiguity varies, and the infant can look very much like a "normal" infant of the opposite sex. In very rare instances, the physical appearance may be fully developed as the opposite of the genetic sex (for example, a genetic male may have normal female appearance).
Typical ambiguous genitalia in genetic females include an enlarged clitoris that has the appearance of a small penis. The urethral opening can be anywhere along, above, or below the surface of the clitoris, which may be considered normal or common abnormalities of anatomic urethra placement (such as hypospadias). The labia may be fused, resembling a scrotum. The infant may be thought to be a male with undescended testicles; sometimes a lump of tissue is felt within the fused labia, further making it look like a scrotum with testicles.
In a genetic male, findings of ambiguous genitalia include a small penis, less than 2 to 3 centimeters (0.8 to 1.2 inches) that may appear to be an enlarged clitoris (the clitoris of a newborn female is normally somewhat enlarged at birth). The urethral opening may be anywhere along, above, or below the penis; it can be placed as low as on the peritoneum, further making the infant appear to be a female. There may be a small scrotum with any degree of separation, resembling labia. Undescended testicles commonly accompany ambiguous genitalia.
Uncertain or mistaken sex is not a physical threat to life, but can create social upheaval for the child and the family.
Common Causes:
pseudohermaphroditism true hermaphrodism (very rare) mixed adrenal dysgenesis congenital adrenal hyperplasia (usually genetic female appears male) chromosomal abnormalities including Klinefelter's syndrome (XXY) Turner's syndrome XXX syndrome (also called triple X or superfemale)maternal ingestion of certain medications (particularly androgenic steroids) lack of production of specific hormones, causing the embryo to develop with a female body type regardless of genetic sex lack of testosterone cellular receptorsHere's a link that supplies information concerning Sex Differentiation Disorders, where charistics show up in chromosomes & karyotypes:
Congenital adrenal hyperplasia: (or adrenogenital syndrome): Genetic error in adrenal glands causes excessive secretion of androgens during fetal life. Genitals of female children are masculinized to a variable degree. Psychological effects include an increased likelihood of same-sex attraction in adulthood. It occurs in approximately one out of 5000 to 15,000 births. Two hormones are critical in normal sex differentiation. The testes of normal 46,XY males secrete both Müllerian Inhibiting Substance (also known as MIS or antimüllerian hormone) and masculinizing androgenic hormones, while the ovaries of a normal 46,XX female secrete neither. In CAH, the absence of a critical enzyme allows a 46,XX fetus to produce androgens, resulting in ambiguous external genitals. A CAH individual may have an oversized clitoris and fused labia.
Both the chromosomes and gonads of CAH individuals are indistinguishable from unaffected females. The genitals, however, may be ambiguous and may more closely resemble male genitalia.
Some CAH individuals have been identified as males at birth and are reared as boys despite the presence of XX chromosomes and ovaries. In other cases, the masculinization of prenatal life is interrupted at birth, and the child is surgically and hormonally treated and reared as a girl. These girls often have characteristics that are popularly stereotyped as masculine. In addition, many CAH individuals identify themselves as lesbians.
Late Onset CongenitalAadrenal Hyperplasia (CAH):, or non-classic congenital adrenal hyperplasia, is a less severe form of CAH in which symptoms can vary widely and appear anywhere between infancy and late adolescence. Because the symptoms can be mild or be confused with the symptoms of other disorders, it may not be diagnosed until a person is well into adulthood, if it all. To make things even more confusing, symptoms can come and go throughout one's life.
The basics behind late onset CAH: Because of an enzyme deficiency, cortisol production is limited, causing the adrenals to overcompensate and make too many androgens (e.g. testosterone, DHEA). If a child has precocious puberty symptoms, advanced bone growth, or extreme muscle development, he or she is more apt to get diagnosed. Fairly often, however, it goes undiagnosed. This is because the physical symptoms in males are not as obvious since higher testosterone causes less differences in men, and a lot of doctors don't think to check for late onset CAH when a woman complains of acne, menstrual disorders, and excess hair growth, etc. Also, both sexes can suffer from anxiety or neurological disorders caused by the lack of enough cortisol (which deals with stress) and excess androgens. The most common cause of both CAH and late onset CAH is a 21-hydroxylase deficiency. However, these disorders can also be caused by a deficiency of 11 beta-hydroxylase, 17 alpha-hydroxylase, 3 beta-hydroxysteroid dehydrogenase, or 20-22 demolase.
Gender reversal in 46XX congenital virilizing adrenal hyperplasia:
Understanding the letters CAH: Since the symbol CAH is used for all forms of congenital adrenal hypoplasia and since CAH1 contains no intrinsic information indicating the particular type of adrenal hyperplasia, CA21H enjoyed favor as the preferred symbol after about 1983. Regarding nomenclature of the gene, the functional gene, previously designated CYP21B, is symbolized simply as CYP21, and the nonfunctional gene, previously CYP21A, is symbolized CYP21P (for pseudogene) (McAlpine, 1988) ... There are 4 recognized clinical forms of congenital adrenal hyperplasia, the majority of cases being associated with 21-hydroxylase deficiency: salt-wasting (SW), simple virilizing (SV), nonclassic (NC) late-onset (also called attenuated and acquired), and cryptic. All 4 forms are closely linked to HLA and represent the effects of various combinations of alleles. In female newborns, the external genitalia are masculinized; gonads and internal genitalia are normal. Postnatally, untreated males as well as females may manifest rapid growth, penile or clitoral enlargement, precocious adrenarche, and ultimately early epiphyseal closure and short stature.
Polycystic Ovarian Syndrome (PCOS): defined as hyperandrogenism:
The most common causes of hyperandrogenism are disorders of unknown cause: polycystic ovary syndrome and idiopathic hirsutism. These disorders affect approximately 5% of premenopausal women.
Polycystic ovary syndrome (PCOS) is a disorder in which many benign cysts form on the ovaries under a thick, white covering. It is most common in women under 30 years old.
The ovaries are glands located on either side of the uterus (womb) in a woman's lower abdomen. The ovaries produce the female hormones oestrogen and progesterone. Before menopause, they also produce eggs.
Ovarian cysts are fluid-filled sacs that result from ovulation cycles. Many ovarian cysts go away without treatment. The most common cysts are just enlargements of normal egg follicles.
This disorder has also been called Stein-Leventhal syndrome.
How does it occur?
Polycystic ovary syndrome is caused by an abnormal production of two hormones by the pituitary gland in the brain. These two hormones are LH (luteinising hormone) and FSH (follicle-stimulating hormone). Imbalance of these hormones prevents the ovaries from releasing an egg each month. The ovaries produce more of the male hormone testosterone. They continue to produce oestrogen but not progesterone.
Androgen insensitivity syndrome: (AIS, or testicular feminization): An XY (chromosomally male) fetus lacks sensitivity to testosterone, so develops external anatomy and gender identity of female, but lacks internal reproductive tract of either sex. One in 13,000 births AIS affects the section of the 46,XY population that is physically unable to react to androgens. In Complete AIS (CAIS), testes exist in the abdomen while the external genitals are female. The Wolffian, or male, duct structures do not form because of the lack of response to androgens. The Müllerian, or female, duct structures do not evolve because the testes still release MIS. At puberty, CAIS individuals grow breasts but do not menstruate. The testes are sometimes removed from the abdomen because they may develop cancer.
For more on Androgen Insensitivity Syndrome (AIS) see:
Partial AIS: Like AIS, but with reduced rather than absent sensitivity to androgens. Child may partially virilize at puberty if testes are not removed. Partial AIS (PAIS) is marked by a limited response to androgens. The external genitals are ambiguous and duct development is incomplete. Depending on the selection of hormone treatment, PAIS individuals may exhibit partial male or partial female development at puberty.
PAIS is less pronounced form of the condition where the person's body is immune to androgen influence to varying degrees. Affected individuals have normal testes with normal production of testosterone and normal conversion to dihydrotestosterone (DHT), which differentiates this condition from 5-alpha-reductase Deficiency. Because the testes produce normal amounts of mullerian-inhibiting factor (MIF), also known as mullerian-inhibiting substance (MIS) or anti-mullerian hormone/factor (AMH/AMF) during gestation, affected individuals do not have fallopian tubes, a uterus, or proximal (upper) vagina.
In PAIS, the external genitalia can be ambiguous, that is, intermediate in structure between male and female. Note that the structure of ambiguous external genitalia can be the same, whether the genetic sex and the sex of the gonads is male or female. The structure of the external genitals does not provide a way to determine whether the condition is PAIS of some other intersex condition. PAIS is also known as "Reifenstein Syndrome." There are basically five grades of PAIS:
Grade 5 - there may be partial fusion of the labia majora (outer vaginal lips), in which the posterior (back) portion of the labia form a web of tissue across the back part of the vaginal outlet.
Grade 4 - this fusion extends further forward, covering both the vaginal opening and the true urethral opening. The cavity formed by the fused labia, through which urine exits, is called a urogenital sinus.
Grade 3 - a more "masculinized" version of Grade 4 PAIS where the labia are completely fused, so that the urethral opening is at the base of the clitoris/penis. The fused labia may have a rugose, or wrinkled appearance and form a bifid, or double, scrotum. The fusion is then more properly called 'labio-scrotal fusion'. The phallus has the appearance of a large clitoris, or a small, bent, penis, bound down in structures called chordee. The chordee is formed from the same tissues that form the labia minora in the female and the frenulum of the penis and the tissues surrounding the urethra (corpus spongiosum) on the underside of the penis in the male. It is not true that the presence of chordee makes erections painful.
Grade 2 - the genital appearance is that of a male with hypospadias, that is, with a urethral opening located somewhere on the underside of the penis. There may be an open gutter running from the urethral opening to the glans of the penis. Assignment is usually male.
Grade 1 - No genital deformity or ambiguity. In almost all of these cases sex assignment at birth is male. The insensitivity to androgens is usually only detected at puberty when breast development (gynecomastia) occurs. The patient may or may not be infertile. This type of AIS is also known as "Mild AIS" (MAIS) and "Undervirilized Male Syndrome."
Sterility usually accompanies any AIS greater than Grade 3.
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).
Discovery: unclear. Hereditary pattern identified in 1912. Karyotype identified in 1937. Genetic cause identified in the 1980s.
Usually Diagnosed: at puberty or in adulthood (usually as part of fertility tests)
Note: Doctors have often kept the truth about the diagnosis from their patients.
Frequency: unknown
generally accepted estimate at 1 in 20,000 for all grades of AIS from Danish records
other estimates range from 1:2,000 to 1:130,000 depending on grade.
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). See The Andrology Handbook, American Society of Andrology 1995.
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. See 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:
Mosaicism of XX and XXY cell lines
Y;X translocation (SRY testicular determining factor transposed onto one X chromosome)
Mutation of a gene downstream of SRY (testicular determining factor)
See "Sex Reversal," Clinical Molecular Genetics Society (U.K.), January 2000.
Discovery: circa 1970
Usually Diagnosed: at puberty or in adulthood (usually as part of fertility tests)
Frequency: 1 in 1000 for partial, 1 in 5000 for full (see above)
Hypospadias: Condition in male children in which the urethral meatus (opening) is located on the underside or at the base of the penis. Represents an incomplete male differentiation of the genitalia, but it is not necessarily considered an intersexed condition, especially in its milder forms.
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.
"[There are] different degrees of mosaicism. That is the percentage of cells in your body that have the extra chromosome. Even when they do a blood test and tell you that '100% of the cells are XXY,' what they are saying is '1005 of the cells from your blood that we tested have XXY.' They may have missed some cells without an X chromosome, and they do not [know] if the cells in your brain, in your skin, in your gut, etc., etc. have all XXY. The concept is that there are men with 100% XXY in all their cells and some others that have a variable percentage." - Dr. Arturo Rolla, from the KS&A XXY+ADULTS email list, Feb. 28, 1999.
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."
Meet Emma, A Question Of Gender:
Chimerism: There are, in fact, three types of chimerism. Blood, or artificial, chimerism, occurs by the introduction of second cell line by, for instance, transfusion. Transplacental chimerism occurs where individual cells transfer between siblings in the placenta.
It is the third type, tetragametic chimerism, that interests us here, someone who has at least two different genotypes which each arose from an individual zygote and eventually fused, when normally they would have developed separately as twins.
The individual therefore has both testicular and ovarian tissue, if the zygotes are of opposite sex. These may be arranged laterally, bilaterally or unilaterally. The most common is lateral with testicular tissue on one side and ovarian tissue on the other. However, in some cases, both sides may have testicular and ovarian tissues as ovotestis (bilteral) or in the unilateral case, both tissues are present on one side, and only one tissue is present on the other side.
Since they almost always have a penis, their situation may not be externally apparent, and most true hermaphrodites are raised as males. However, while sperm remain virtually undeveloped, they almost always also have a uterus and many undergo menstruation or ovulation.
Source no longer valid http://www.esb.utexas.edu/palmer/bio303/group6/finalwebpage.htm
Footnotes
1. Unrelated to intersex conditions is a rare complication known as "fetus in fetu" where one twin developes with the other inside it. Reuters reported that in Calcutta, doctors removed a fetus weighing one kilogram from a six-month-old boy (who himself weighed only 6.5 kilograms) while elsewhere doctors removed a fetus weighing 230 grams from a 40-day-old infant.
2. The frequencies of chimærism and mosaicism are unknown, but doctors might benefit from a better understanding of both conditions. In recent years, tantalising hints have emerged that pockets of genetically mismatched cells may contribute to conditions as common as infertility, autism and Alzheimer's disease. "I think mosaicism has been neglected as an underlying cause of disease," says Huntington Potter, who works on the genetics of Alzheimer's at the University of South Florida in Tampa.
And if chimæras and mosaics are more common than we realise, they will complicate future efforts to tailor drug treatments to people's individual genetic constitutions. Two genetically different tissues in one body might produce an unpredictable response to a drug, speculates Roland Wolf, who studies pharmacogenetics at the University of Dundee, UK. "It's completely unknown."
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.
Discovery: 1959 by various researchers
Usually Diagnosed: any time from birth to adulthood
Frequency: 1 in 1,000 births
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.
Discovery: 1961 Sandberg et al
Usually Diagnosed: any time from birth to adulthood
Frequency: unknown
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.
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. The gonads may be ovotestis, or they may be separate, 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.
People with Ovatestis have ambiguous genitalia at birth. 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.
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.
Discovery: identified in antiquity
Usually Diagnosed: at birth
Frequency: 1 in 83,000
Mayer-Rokitansky-Kustur-Hauser (MRKH) syndrome: Failure of development of vagina, cervix, uterus and fallopian tubes in genetic females. Cause not known. James Benson may have had this syndrome, although his male gender identity is atypical. ALso known as Mullerian Agenesis, Vaginal Agenesis, Congenital Absence of Vagina
Vaginal agenesis: Failure of formation of vagina, for a variety of reasons, including MRKH syndrome.
McIndoe Surgical Procedure for Vaginal Agenesis, or MRKH:
If you are reading this guide, it is likely that your gynecologist has recommended this operation because you have MRKH or vaginal agenesis. After helping you understand your diagnosis, your doctor will probably talk to you about different ways to create a vagina. You may choose to use vaginal dilators as your first choice. Vaginal dilators are prescribed by your doctor. The McIndoe surgical procedure, is usually done if you do not get good results from using vaginal dilators. If you decide to have this operation, you will be asked to sign a consent form that gives your doctor permission to do the surgery. Your doctor will explain about any risks. If you are under age 18, a parent or guardian must also sign the surgical consent form.
What is a McIndoe procedure?
The McIndoe procedure is an operation that corrects vaginal agenesis by creating a vagina with a skin graft. The surgery is done under general anesthesia. This means that you will be in a deep sleep and will not feel any pain during the surgery.
How is a vagina created?
While you are asleep and under general anesthesia, your doctor will first take a skin graft (a very thin piece of skin) from your buttocks or another part of your body. It is also possible to use artificial skin instead of taking skin from your body. If you are having a skin graft taken from your body, before your surgery, your doctor may ask you to outline your bathing suit borders with a washable marker. This is done so that the area from where skin is taken will not be visible when you are wearing a bathing suit. The skin graft is then placed over a vaginal mold. Your doctor will create an opening by making an incision at the area of the vaginal dimple (where the skin puckers in, at the area where your vagina started to develop). The vaginal mold (with the skin graft attached) is inserted into this opening. While the vaginal mold is in place, the skin graft will naturally attach to the inside of your vagina. This process creates your vaginal opening. Later, after the skin is completely attached, the vaginal mold will be removed, leaving the newly attached skin in place.
What happens after the surgery?
You will have the vaginal mold with the skin graft inside you all the time for 1 week. You will remain in bed in the hospital during this time so that the new skin can heal. You will not be permitted to get out of bed at all. During the time you are in bed, you will also have a catheter (a tube in your bladder so that you can pass urine) and you will need to use a bed pan for bowel movements. After you have been on bed rest for one week, you will go back to the operating room to have the vaginal mold taken out.
How long will I be in the hospital?
You can expect to be in the hospital for approximately 7 days. However, if you have problems such as a fever, you may need to stay in the hospital a little bit longer. Most teens that have had this procedure say that the hardest part of the recovery process is staying in bed. Ask your doctor about services in your hospital, such as behavioral medicine (a special team of professionals who are trained at helping patients cope during their hospital stay), or activity and art therapists, to help you deal with bed rest. Many hospitals have specialists who help coordinate activities and school tutoring when patients have to stay longer than a few days.
When is it safe to have intercourse?
If after examining you, your doctor says you have healed well, you can begin to have intercourse about 4-6 weeks after your surgery. Since women with vaginal agenesis don't have the same moisture in their vagina as women without vaginal agenesis, a vaginal lubricant such as K-Y jelly is necessary for your comfort with intercourse.(Do not use oil- based lubricants such as Vaseline, since these lubricants break down the latex used in condoms causing the them to tear.)
What happens when I go home from the hospital?
Before you leave the hospital, you will be taught to wear a dilator at all times for 3 months. You can only remove it when you have to pass urine, have a bowel movement, shower, or have sexual intercourse (only if your doctor tells you that your vagina is healed). After 3 months, you will have to wear the dilator only at night for 6 months, unless you are having sexual intercourse regularly. Using the dilator ensures that the new vaginal opening remains open.
Your doctor will see you often for follow-up visits to check that your new vagina is healing, and to make sure that the area where your skin graft was taken is healing well too.
What if I don't wear the dilator after surgery?
If you do not follow your doctor's instructions about using the dilators, it is possible to have problems, such as vaginal stenosis (when the newly created vagina narrows and scar tissue forms).
Will anyone be able to tell that I had this operation?
No one should be able to tell that your vagina was created with a surgical procedure. The graft site (where the skin was taken-usually the buttocks) usually fades over time, but in most cases it will leave a permanent scar.
Will anyone be able to tell that I'm wearing a dilator?
The dilator is like wearing a plastic tampon. No one can tell that the dilator is in place while you are wearing it. After your vagina has healed (in about 6 weeks), you will only have to wear the dilator at night.
What are the risks to this operation?
With any type of major surgery, there are possible problems associated with general anesthesia. Problems caused just by a McIndoe procedure are very rare. They include infection, bleeding, and possible scarring of your new vagina.
How can I prepare for surgery?
Talking to another teen that has had a McIndoe procedure for vaginal agenesis is VERY helpful. It makes a huge difference if you are well prepared and know what to expect. Talk to your doctor about the possibility of talking with another teen and visit our Health Information site on vaginal agenesis or e-mail us.
Is there anything else I should know?
When you have completed your post-op appointments after your surgery, your doctor will most likely have you return once a year to see how your are doing. If you have any concerns in the meantime, you should call your doctor.
Source: Young Womens Health
Cloacal exstrophy: Severe congenital malformation of pelvis, including (in males) lack of a penis. These boys usually develop a male identity even if castrated and surgically reconstructed as females.
Klinefelter's syndrome: Genetic males with one or more extra X chromosomes (XXY, XXXY). Anatomically male but infertile. Although the exact incidence of Klinefelter's syndrome is uncertain this constitute about 1:500. 3 /1:1,000 births Sometimes chromosomes join but do not form standard 46,XX or 46,XY combinations. Individuals with Klinefelter Syndrome are genetically 47,XXY and live as men. Small penis and testes, low androgen secretion, and possible female breast development are characteristics of this syndrome.
For more information see the link above or http://www.genetic.org/ks/
Turner's syndrome: Affected individuals have one X and no Y chromosome. Ovaries degenerate during fetal life, in other respects anatomically female. Short stature and lack of secondary sexual characteristics without treatment. Although the exact incidence of Turner's syndrome is uncertain this constitute about 1: 2500. 3
Turner's Disease where the chromosomes are XO. Turner's Syndrome is a rare chromosomal disorder of females (1:2500) characterized by short stature and the lack of sexual development at puberty. This syndrome was first described by H.H. Turner in 1938. Other physical features may include a webbed neck, heart defects, kidney abnormalities, and/or various other malformations. Normally, females have two X chromosomes. In some cases of Turner's Syndrome, however, one X chromosome is missing from the cells (45,X); research studies suggest that approximately 40 percent of these individuals may have some Y chromosomal material in addition to the one X chromosome. In other affected females, both X chromosomes may be present, but one may have genetic defects. In still other cases, some cells may have the normal pair of X chromosomes while other cells do not (45,X/46,XX mosaicism). Although the exact cause of Turner's Syndrome is not known, it is believed that the disorder may result from an error during the division (meiosis) of a parent's sex cells.
It is possible that Turner's Syndrome may not be the name that you expected. Your physician may have given you another name for this disease. Please check the synonyms listed below to find other names for this specific disorder:
45, X Syndrome Bonnevie-Ulrich Syndrome
Bonnevie-Ulrich Syndrome Chromosome X, Monosomy X Gonadal Dysgenesis (45,X)
X Gonadal Dysgenesis (45,X) Gonadal Dysgenesis (XO) Monosomy X
Monosomy X Morgagni-Turner-Albright Syndrome Ovarian Dwarfism, Turner Type
Ovary Aplasia, Turner Type Pterygolymphangiectasia
Pterygolymphangiectasia Schereshevkii-Turner Syndrome Turner-Varny Syndrome
Turner-Varny Syndrome Like Klinefelter Syndrome, Turner Syndrome is marked by an abnormal karyotype, 45,XO. While Turner women have female external genitals, the individuals lack properly formed ovaries. Without estrogen treatment, no breast growth occurs. Other possible features of Turner Syndrome include short stature, webbing of the neck, and misshapen internal organs.
Swyer Syndrome: Pure gonadal dysgenesis is a condition sometimes referred to as Swyer Syndrome. This syndrome is similar to Turner Syndrome in that individuals with this syndrome will have only streak gonads. In contrast to Turner Syndrome, in which a chromosome is missing (XO), individuals with Swyer Syndrome have XY (male) chromosomes. Although Swyer Syndrome individuals have a Y chromosome, the chromosome may be missing the sex-determining segment. Without this segment, the embryo cannot develop testes and as a result, the masculinizing hormones are also missing. In the absence of the masculinizing hormones, the fetus will take the 'default' female path and will develop a uterus but will not have any ovaries.
This condition is not apparent at birth and the child will be raised as a girl. The syndrome is generally diagnosed at puberty when the absence of a menstruation and breast enlargement causes suspicion.
Persistent Mullerian Duct Syndrome: Individuals with Persistent Mullerian Duct Syndrome have the internal organs typical of males as well as females. These individuals have a male chromosomal pattern (XY) and therefore develop testes which secrete androgen but for some reason fail to secrete anti-Mullerian hormones. The androgens cause the fetus to follow the male path and develop the external appearance and internal organs of a male. However, fallopian tubes and a uterus are also formed because the anti-Mullerian hormones are not acting to stop this development. This condition is generally not diagnosed at birth. Individuals with this syndrome are reared as males and have a male identity.
Testosterone Biosynthetic Defects: One in 13,000 births In a condition related to CAH, some 46,XY individuals do not have the properly functioning enzymes needed to convert cholesterol to testosterone. When such enzymes prove completely incapable of creating testosterone, the genitals appear female; when the enzymes function at a low level, ambiguous genitals form.
Micropenis or Microphallus: In order to create a proper penis in a 46,XY individual, androgens must be secreted twice during fetal life. First, the androgens help to shape the basic structures into a penis and scrotum; later, the androgens enlarge the penis. A micropenis is the result of normal androgen secretion in the first stage and little or no androgen secretion in the second. The penis is normal in shape and function, but extremely small in size. While earlier surgeons often converted micropenises to female genitals, today micropenises are often left intact. Individuals with intact micropenises are often given testosterone to stimulate masculinizing puberty.
see http://www.emedicine.com/PED/topic2798.htm (not all considered intersex condition; Penile agenesis, Penile duplication, Penile torsion, Lateral Penile curvature, Penoscrotal transposition, Webbed / buried penis, Agenesis of the scrotum, Ectopic and accessory scrotum, Splenogonadal fusion)
Kallmann's syndrome: is a rare disorder which, according to a recent estimate,affects around 1 in 10,000 men and 1 in 70,000 women. As a sufferer, you have an hormonal deficiency which, unless you seek appropriate medical treatment, results in a failure to go through puberty normally. In other words, without treatment you remain sexually underdeveloped and infertile.
Timing Defect: If all of the proper stages of normal male sex differentiation occur, but the timing is incorrect by just days, errors may arise. The occasional outcome in a 46,XY individual with this timing defect is ambiguous external genitals.
Gonadal Dysgenesis: One in 150,000 births In gonadal dysgenesis, the androgen receptors are intact while the androgen-secreting testes are not. Complete Gonadal Dysgenesis, in which neither androgens nor MIS are produced, yields female genitals and Müllerian duct formation, despite a genetic profile suggesting maleness. With estrogen treatment, female puberty can be achieved. Partial Gonadal Dysgenesis results in ambiguous genitals and duct development, as some androgens and MIS are produced. Like PAIS, the choice of hormone treatments determines the physical gender of the adult with Partial Gonadal Dysgenesis.
Gonadal Dysgenesis by Nichole E. Justus
Gonadal dysgenesis also known as Swyer syndrome is characterized by "streak gonads" is a phenotypic female with a 46,XY karyotype. This condition is due to a mutation which inhibits the function of the Y-borne determinant that would normally cause the indifferent embryonic gonad to differentiate into a testis. The streak gonad is incapable of ovulation or estrogen secretion. The syndrome is sometimes called "pure gonadal dysgenesis", however, this designation may also refer to the presence of streak gonads with a 46,XX karyotype. Mixed gonadal dysgenesis has extreme variability, which may extend from a Turner-like syndrome to a male phenotype. (J.Med. Genet, HMG box of the SRY gene leads to XY gonadal dysgenesis. Aug. 1993) This paper will reflect the mixed form resulting in the 46,XY female that lack the SRY gene responsible along with other genes for turning on the development of maleness. Individuals with this condition are often intelligent masculine females with heights below statistically determined norms.
Some patients have no evidence of masculinization and have a female phenotype with the somatic signs of Turner syndrome. The presence of unilateral testis, a contralateral streak gonad and chromosomal mosaicism with both XO and XY cell lines indicate the mixed gonadal condition. It has been suggested that mixed gonadal dysgenesis may be an extreme variant of true hermaphroditism and has been regarded as the main form of manifestation of 45,X / 46,XY mosaicism. (Al-Awadi, Sadika. "Mixed Gonadal Dysgenesis with Structural Anomalies of the Y-Chromosome." 1994.) The 46,XY female karyotype is often discovered prepubertally when chromosomal studies are made in short girls, or later when sexual maturation fails to occur. The fallopian tubes and uterus are present as well as gonads of intra-abdominal undifferentiated streaks. Gonadal tumors, usually gonadoblastomas, occur in about 25% of these patients particularly in those with the more female phenotypes. It is often recommended as a precaution to remove the gonadal tissue in patients reared as girls. (Microsoft Encarta 1996 Encyclopedia. Genital Disorders.)
One case of interest relates to two individuals named Stella and Ewa who won Olympic medals more than thirty years apart as females. It was later discovered that the women were 46,XY females with the mixed gonadal dysgenesis condition. Not much other than their phenotypically female status is known although it could be assumed the women were not able to bare children. There condition was not hereditary nor can it be predicted by individuals wishing to have children. The condition is thought to occur because the SRY gene normally located on one arm of the Y-chromosome is translocated to an X-chromosome or it is not functional at the normal location on the Y-chromosome. This gene is thought to be the testis determining factor that somehow triggers the undifferentiated gonadal tissue of the embryo to form testis. Research with transgenic mice has proven that in the absence of the SRY gene female development occurs. (Klug and Cummings. "Concepts of Genetics", 4th edition. The Y-Chromosome and Male Development.) This SRY gene is thought to be responsible for the sex reversal in 46,XY females and to date there have been nineteen mutations identified in the SRY gene associated with the mixed gonadal dysgenesis syndrome. (Olson, GP. Sex Differentiation Disorders. American Journal of Primary Health Care, 1998.)
The presence of immature testicular tubules had been observed in female patients that have karyotype 46,XX with the normal SRY gene translocated to the X-chromosome. Stella and Ewa could possibly have been the result of this SRY gene translocation although it more likely they received a Y-chromosome with a mutation of the SRY gene along the way. These two women were perhaps fortunate to have competed prior to 1968 when the Olympic committee began requiring a "buccal smear test" which resulted in XX representing only females and XY representing only males. This surely resulted in individuals not being able to compete or lead athletes to compete with individuals who shared their karyotype. In 1992 the International Olympic committee replaced the buccal smear test with the polymerase chain reaction (PCR) to identify the SRY gene. This is a method by which DNA segments are amplified, cycles of denaturation are used, along with annealing to primers, and DNA polymerase directed DNA synthesis. ( Klug and Cummings, "Concepts of Genetics", 4th edition. PCR testing.) This test enables fair representation of the individual and would not penalize anyone for a condition they were born with.
Another condition of the mixed gonadal dysgenesis is the OX/XY male. The mechanism underlying this masochism is probably the result of a mitotic nondysjunction in an originally XY embryo causing XO/XY and XYY cell lines. Mixed gonadal dysgenesis cases with structural anomalies of the Y-chromosome and associated structural damage is not well understood.
References
- Al-Awadi, Sadika A. MD. "Mixed Gonadal Dysgenesis with Structural Anomalies of the Y-Chromosome. Kuwait Medical Genetics Center, Maternity Hospital, 1994.
- Berhrman, Richard E. MD. Nelson textbook of Pediatrics, W.B. Saunders London, 14th edition, 1992. "45,X/46,XY Gonadal Dysgenesis."
- Klug, William S. and Cummings, Michael R. Concepts of Genetics, 4th edition, Prentice Hall NJ. 1994. "The Y-Chromosome and Male Development"
- Olson, GP. "Testicular feminization Syndrome", American Journal of Primary Health Care. Feb.1988.
Testicular Dysgenesis Syndrome - that is what it is called - symptoms are cryptorchidism, hypospadias, poor sperm quality (infertility & possible ovarian testicular tissue), testicular cancer. This is not the same as mixed-gonadal or XY-gonadal dysgenesis or AIS or XXY or any other syndrome - it is what it is, and unlike exposure to DES, it is believed to be the result of exposure to Environmental ECD's
5-Alpha Reductase Deficiency: This condition is similar to the androgen resistance syndromes. Individuals with 5-Alpha-Reductase Deficiency have XY chromosomes and testes but appear phenotypically female at birth. This condition results from the body's failure to convert testosterone to dihydrotestosterone, the more powerful form of androgen responsible for the development of male external genitalia. Despite a female appearance during childhood, by the onset of puberty, the body will masculinize. The testes descend, the voice deepens, muscle mass substantially increases, and a 'functional' penis that is capable of ejaculating develops from what was thought to be the clitoris. The prostate, however, remains small and beard growth is scanty. Although the individual is typically raised as a girl, at puberty, psychosexual orientation typically becomes male. In other words, virilization will occur at puberty in the absence of medical intervention.
5-Alpha-Reductase Deficiency is an inheritable condition, and has resulted in a large group of affected individuals in some communities in the Dominican Republic. In some cases, a diagnosis is made in early puberty, male external development is arrested, and the individual will take exogenous female hormones to simulate a female puberty. In these cases, the individual will often have a female sexual identity. Other individuals with 5-Alpha-Reductase Deficiency will develop a masculine appearance in conformity with their genotype and will also develop a male psychosexual identification.
5-Alpha Reductase is the enzyme that facilitates the conversion of testosterone to another hormone, dihydrotestosterone (DHT). When a genetic male is deficient in 5-Alpha Reductase, the powerful DHT hormone is not produced. While testes and Wolffian ducts do exist, the male external genitals are similar in size to those of a normal female. If left intact, an adult 5-Alpha Reductase Deficiency individual will appear generally male but with small genitals and no facial hair.
Surgical Creation of an Intersexed Condition: In addition to cases in which intersexed individuals may be assigned a sex that does not comport with their own sexual identity, some persons have had their sexual features altered either accidentally or purposefully. For instance, some individuals have had their penises removed at a young age because they were mistakenly identified as females and the penis was considered an oversized clitoris that required reduction. Although these cases are rare, they are illustrative of the complex nature of sexual identity.
The most famous surgical alteration case involves a male whose penis was accidentally ablated when he was eight months old. The doctors recommended that his genitals be reconstructed to have a female appearance and that he be raised as a girl even though all other sexual factors were congruent and were male. The doctors also recommended that his 'history' as a male be hidden from him.
This surgical alteration case made headlines in 1973. Because the doctors involved in the surgical alteration reported that the child and the parents had successfully adapted to the sex/gender alteration, sociology, psychology, and women's study texts were rewritten to argue, 'This dramatic case . . . provides strong support . . . that conventional patterns of masculine and feminine behavior can be altered. It also casts doubt on the theory that major sex differences, psychological as well as anatomical, are immutably set by the genes at conception.'
For more than twenty years, the scientific literature continued to report that the surgical alteration was successful and the child's sexual identity was female. This case made headlines again in 1997 when Milton Diamond and Keith Sigmundson reported in the Archives of Pediatric & Adolescent Medicine that the boy who was turned into a girl was now living as a man.
According to the Diamond and Sigmundson report, John (a pseudonym) had always thought of himself as different from other girls. As a child, he preferred 'boy' type toys and preferred to mimic his father's rather than his mother's behavior. He also preferred to urinate in a standing position although he had no penis. Because of the cognitive dissonance, Joan (a pseudonym used by the authors to describe John while he lived a female life) often had thoughts of suicide.
At twelve, Joan was put on an estrogen regimen. She rebelled against the regimen and often refused to take the medication. At fourteen, Joan confessed to a doctor that she had suspected that she was a boy since second grade. At that point, the doctors agreed with Joan that she should be remasculinized and become John once more. At age fourteen, Joan/John returned to living as a male. He received male hormone shots and a mastectomy. He underwent surgery to reconstruct a phallus at ages fifteen and sixteen. John was eventually accepted as a boy by his peers. He is now married and helping to raise his wife's children.
John was not born an intersexual. He became an intersexual when doctors removed his penis, constructed external female genitalia and administered female hormones. Despite this intervention, John always felt that he was not a female.
In another recently reported similar case, a child's penis was severely damaged during a circumcision that was performed when the child was two months old. A decision was made to 'turn' the child into a girl. At seven months, surgery was performed to remove the remainder of the male genitalia and from that point on the child was raised as a girl. She was interviewed by a psychiatrist at ages sixteen and twenty-six. The results of these interviews indicate that she self identifies as a bi-sexual female whose recreational and occupational interests are more typically identified with males.
The significance of these two reports is that they exemplify the difficulty law and medicine must confront in defining sex. At birth, these infants' sex factors were congruent and were male. After the original intervention, they were turned into intersexuals but were treated by society as if they were females. They had male chromosomes, ambiguous genitalia, and female gender assignment. As adults, one person self-identifies as a heterosexual male while the other self-identifies as a bi-sexual female.
These studies and other reports about intersexuals have forced the medical and psychiatric communities to question their long-held beliefs about sex and sexual identity. Just as current scientific studies have caused the scientific communities to question their beliefs about sex and sexual identity, the legal community must question its long-held assumptions about the legal definitions of sex, gender, male, and female." Greenberg, Defining Male and Female: Intersexuality and the Collision Between Law and Biology, 41 Ariz. L. Rev. 265, 278-92 (1992).
ENVIRONMENTAL (NON-GENETIC)
Progestin Induced Virilization (PIV) - Similar to CAH is Progestin-Induced Virilization ('PIV'), which results from an abundance of male hormones in an otherwise normal XX female. PIV is caused by exposure in-utero to progestin that has been taken by the mother during pregnancy. Like individuals with CAH, PIV women will frequently have clitoral hypertrophy. In all other respects, however, they have completely female gonads. 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.
Discovery: circa 1970
Usually Diagnosed: as newborns or during puberty
Frequency: unknown
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.
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.
DES Sons (46, XY DES) - DES sons are those who's mothers took DES during pregnancy. Although, most DES sons will not experience adverse health effects from this exposure there are certain signs that should be watched for by a medical professional.
The effects faced by DES sons include:
Hypospadias
Meatal stenosis- a narrowing of the opening of the penis.
Epididmymal cysts- the most common abnormality, non-cancerous cysts located on the back of the testicles.
Testicular problems- undescended or small testicles, which are visible at, birth. Men with this condition are at increased risk of testicular cancer.
Microplallus (also called Micropenis)
Testicular varicoceles- an irregularly swollen or varicose vein on the testicle.
Previous studies do not show a correlation between DES and fertility problems in men. Testicular self-exam and yearly check-ups are important for all men, but particularly for DES sons.
DES Daughters (46, XX DES) - Contrary to prior belief, women who were exposed to DES before birth also experience problem. They require special care during pregnancy because of an increased risk of problems such as ectopic pregnancy and premature labor and delivery. However, with proper care most women can achieve and maintain healthy full term pregnancies. Some DES exposed women may have an increased risk of fertility problems, however getting pregnant is not difficult for most women, and routine infertility evaluation is not usually necessary. The greatest risk to DES daughters is an increased risk for a rare form of cervical or vaginal cancer called clear cell carcinoma. Abnormal cell changes on the cervix may occur more frequently among this group of women and they should be treated in most cases. DES daughters need regular pelvic exams at all ages. The pelvic exam for DES daughters is slightly different from the normal pelvic exam because it includes a separate Pap smear of the upper vagina. If DES-related changes are detected during a pelvic exam, it may be necessary to have pelvic exams more than once a year.
Discovery: circa 1970
Usually Diagnosed: at any stage of life problems may be discovered that can be linked to DES exposure before birth or as children.
Frequency: unknown
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.
Discovery: Allen, E. and E.A. Doisy. 1923. DDT's estrogenic effect identified in 1950.
Usually Diagnosed: at any stage of life problems may be discovered that can be linked to Environmental Estrogen exposure before birth or later in life.
Frequency: unknown
Disorders characterized by a strong, persistent cross-gender identification and by continuous disc