intersex_medical_perspective

The information provided here is written from a medical perspective and is provided as a service to help understand different intersex variations. There are certain medical problems associated with some variations. For medical help, please consult a qualified medical practitioner. OII does not accept intersex as a medical issue per se. However, many intersex variations have condition specific diagnoses and many people prefer to use the diagnosis or medical description of their variation, instead of the term "intersex". There is quite a bit of disinformation concerning the term "intersex", often implying it is an identity label. It is for many people but not for others. OII uses the term "intersex" simply to refer to a sexual morphology that would be classified as "intermediate" for the norms established for male and female. The individual sexual identity of a person is unpredictable, regardless of their sex, whether one is intersex or not. It should be noted that many of these "diagnoses" may not result in an intersex variation which would be defined as being of intermediate sex between the standards for male and female.

Please note: OII is not of the opinion that people who are born with intersex variations do not have health needs. Quite the contrary. What we are saying is that being intersex, or of intermediate sex, is itself not a disorder which requires medical treatment. This is one of the many reasons we oppose the term "Disorders of Sex Development" because it comprises all the different variations which could result in being intersex and makes our SEX (intersex) itself the disorder. It is obvious that people born of intermediate sex have health problems. That is what OII wants to be treated, our actual health problems, not gender or other cosmetic changes to make us meet norms for male and female. We provide the following information in hopes that individuals who are intersex will seek medical attention for the illnesses which might be associated with their particular variation. In discussing health issues with intersexed people from all over the world, we in OII have found that real health issues are often overlooked in intersex people because the emphasis is on the "sex disorder" aspect and since all the different variations have very different causes, doctors are often not aware of the particular health needs associated with a particular variation and the health of the individual is compromised.

Click on the buttons for information on each topic.

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.

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)

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.

See http://www.emedicine.com/ped/topic1980.htm

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.

See: http://www.blackwell-synergy.com/links/doi/10.1046/j.1464-410X.1997.00127.x/abs/

See: http://ibis-birthdefects.org/start/adrenhyp.htm

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)

See: http://www.bookrags.com/research/xx-male-syndrome-wog/

See http://genome.wellcome.ac.uk/doc_WTD020752.html

Ambiguous Genitalia: (Also see: http://www.emedicine.com/ped/topic1492.htm)

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 receptors

see http://www.urologyhealth.org/print/index.cfm?topic=31

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."

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

See http://www.aaa.dk/TURNER/ENGELSK/XYY.HTM

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.

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.

See: http://www.humpath.com/article.php3?id_article=5029

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.

Mayer-Rokitansky-Kustur-Hauser (MRKH) syndrome: Variations in the development of the 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 For support:

Vaginal agenesis: variations in vaginal development, 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

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:

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.

See http://www.kathies-pain.com/pcos.htm See http://www.pcos.net/

See http://www.pcosupport.org/ See http://www.inciid.org/faq/pcos.html

See http://pcos.freeservers.com/ See http://centerforpcos.bsd.uchicago.edu/

See http://www.soulcysters.com/ See http://www.wdxcyber.com/dxinf001.htm