FAQs

A number of fine peer support groups and pediatric teams exist to care for the needs of people with DSD and their families. Accord Alliance exists to support those groups in their efforts to provide an improved quality of life through a patient-centered model of care. We do this in part by working to connect these groups to each other.

Overall, we seek to be an organization that gives the people active in DSD care the tools they need to make affected people’s lives better. So we provide workshops, clinical guidelines, and a handbook for parents, as well as providing a central location on the web for those seeking to develop high-quality interdisciplinary team approaches to DSD care delivery. Accord Alliance is the only organization offering this compilation of support services to those who provide care for DSD.

You can support our work by clicking here.

Before coming to a consensus to use the umbrella term “disorders of sex development” (DSD) in 2006, clinicians sometimes used older umbrella terminology, including the terms “pseudo-hermaphroditism,” “true hermaphroditism,” and “intersex.” Some patients found these older terms to be so stigmatizing that they were unable to talk about their conditions, and this left them unnecessarily isolated and ashamed. Some clinicians even withheld diagnoses from affected individuals because they were afraid that the labels of “hermaphroditism” or “intersex” might have a negative emotional and/or social impact on these individuals and their families.

When clinicians came to a consensus to use the new term DSD, they did so in part out of this recognition of harm to patients, but also out of recognition that the definitions of various medical terms based on “hermaphrodite” were many years out of date in terms of scientific advances. They also recognized that “intersex” did not in practice function as a useful umbrella alternative because clinicians could not agree on what counted as “intersex.”

Another problem that these older terms presented was that they seemed to imply a specific type of identity (as in “she is a pseudo-hermpahrodite” or “he is intersex”) when, in fact, often the condition did not form a critical aspect of a patient’s identity. By contrast to these older terms, the term DSD refers to a condition that a person has, not who a person is. It seeks to put the person first.

Today, there is clear medical consensus that the term DSD refers to “congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical.” This consensus around terminology is allowing clinicians to work together towards well-integrated, progressive, patient-centered care across the DSD spectrum.

The term “disorders of sex development” can be unhelpful, if someone believes the term means an affected individual’s worth is necessarily less than another person’s. Remember that DSD refers to a condition someone is born with, not who she or he is as a person. Again, DSD is a blanket term that simply indicates a variation from the statistical norm where sex development is concerned.

The term DSD can also be unhelpful if a person mistakenly believes that the term somehow indicates a specific course of action. In order to determine what (if any) medical interventions or social support an affected individual needs to be well, affected individuals and their caregivers must consider that individual’s specific condition and situation. DSD is a general diagnosis, not a specific treatment plan.

That’s hard to say, because to provide a number for sure, we would have to have a consensus on what counts as different-enough-from-average to count as a DSD. There is, in fact, no consensus on how small a penis must be or how large a clitoris must be before it counts as a DSD.

We do know that some particular disorders of sex development are fairly rare, occurring perhaps only once in ten or twenty thousand live births. For example, the development of ovotestes is a relatively rare phenomenon. But some DSD are substantially more common. For example, hypospadias (in which the urinary opening of the penis is not in the typical location) is estimated to occur as often as once in every 150 live male births.

Estimates from specialists working in major medical centers suggest that about one in every 2,000 births at a hospital involves a child whose genitals are atypical enough to make the child’s sex unclear. But, as noted above, if we count all types of sex anomalies, DSD must be considered much more numerous than 1 in 2,000. One review estimates that about one in a hundred persons has some kind of sex anomaly.

So, what we can say with some confidence, is that DSD are more common than the average person would probably guess. If you are in a moderate-sized town or in the kind of superstore that has several hundred customers at a time, there are probably people around you with DSD. If you are in a college football stadium watching a game, there are probably people around you with DSD. And if you are in a large school, there are children around you who were born with DSD. DSD affects our families, neighbors, coworkers, and friends.

People tend not to talk very much about the scientific facts of sex development, and in most cultures, clothing covers up some of the evidence for natural sexual variation. This means that many people simply don’t know about how complicated and varied human sex is. Additionally, until relatively recently, the medical system treated DSD the way cancer used to be treated: with a veil of secrecy and often even shame.

As a consequence of all this, DSD has been largely invisible to many people. But each year, more and more people are learning about DSD and learning that people all around them are affected. Those affected are benefitting from that improved understanding.

Shared decision-making in pediatrics means that families are actively involved in decisions made about a child’s medical care. The parents and mature child do not merely agree to what a physician has already decided is the best course of treatment. The parents and mature child are actively educated about the evidence for the necessity, risk, and benefits of various options.

Ideally, in the care of DSD, careful reports are kept in the patient’s medical record about how and why specific decisions were reached. This way the patient can later look back at his or her medical record and understand the rationale for the choices that were made in his or her treatment. We know from individual histories that adults with DSD find it particularly important to have and to understand their own medical records.

The American Academy of Pediatrics has endorsed the 2006 “Chicago Consensus” of the Pediatric Endocrine Society and the European Society for Pediatric Endocrinology. You can read that statement by clicking here. The Chicago Consensus is helpfully summarized as follows in an article by Pasterski, Prentice, and Hughes, entitled “Consequences of the Chicago Consensus on Disorders of Sex Development (DSD): Current Practices in Europe” (Pasterski, Prentice, and Hughes):

• “Nomenclature should be revised to reflect careful consideration of the concerns of patients.
• Management must be carried out by an experienced interdisciplinary team, including mental health staff with expertise in DSD.
• All individuals should receive a sex assignment, but only after expert evaluation.
• Only surgeons with specific training/expertise should undertake surgical procedures.
• Feminising surgery should only be considered in cases of severe virilisation.
• Emphasis of surgical intervention in all cases should be on functional outcome rather than strictly on cosmetic appearance.
• Open communication with patients/families is essential and participation in decision making is encouraged.”

The full “Chicago consensus” is available by clicking here.

A number of institutional barriers persist. These include an absence of qualified specialists in psychology, genetic counseling, and social work, as well as an absence of adequate reimbursement systems for team care. Additionally, some of the specialists required for a quality DSD team are not accustomed to working collaboratively, and so in some cases they simply do not know each other and do not know how to set up the needed collaboration.

Accord Alliance is specifically dedicated to fostering team care for DSD. We send representatives to nascent and experienced teams to share best practices and to support adherence to the AAP recommendations.

A number of major changes have occurred in DSD care in the last decade. Most notably, clinicians have become much more attuned to issues of quality of life, recognizing that providing good cosmetic outcomes or normative gender outcomes are not the same as providing the highest possible quality of life for patients with DSD. Many teams have begun to more actively integrate specialists specifically trained to provide patient education and counseling, including psychologists, social workers, and genetic counselors.

Many clinicians have become persuaded that gender identity arises from a complex developmental process involving prenatal development as well as postnatal development, nature and nurture. Clinicians have become more attentive to prenatal brain development when making gender assignments for children with DSD. (Thus boys born with micropenis are no longer routinely sex reassigned as girls.) They have recognized that gender assignment does not require surgical sex assignment. (So, for example, the Chicago Consensus recognizes that feminizing genitoplasty is not required for girls whose genitals are moderately virilized.)

For certain conditions, surgical interventions are being delayed until puberty, both in order to improve outcomes and to allow the patient to participate in surgical decision making. For examples, although vaginoplasties in the past were routinely performed on infant and toddler girls – requiring their parents to do vaginal dilation as part of the aftercare – most surgeons now concur that vaginoplasties are generally best performed in older girls.

Whereas in the past, some clinicians advocated withholding information about diagnoses from some individuals and families affected by DSD – particularly in cases of girls and women with Y chromosomes – today most clinicians agree that affected individuals and families have the right to know the facts. Many acknowledge that patients are better off when treated with honesty, since withholding of information often conveys an element of shame that ultimately harms the patient meant to be protected.

More and more clinicians are actively referring to and working with support groups for DSD. They have recognized that peer support provides a level of psychological and emotional comfort that is generally unmatched in the clinical setting.

As noted above, a number of institutional barriers persist. These include an absence of qualified specialists in psychology, genetic counseling, and social work, as well as an absence of adequate reimbursement systems for team care. Additionally, some of the specialists required for a quality DSD team are not accustomed to working collaboratively, and so in some cases they simply do not know each other and do not know how to set up the needed collaboration.

Accord Alliance is specifically dedicated to fostering team care for DSD. We send representatives to nascent and experienced teams to share best practices and to support adherence to the AAP recommendations.

If a child is born with atypical genitals (meaning genitals different from typical male or female genitals), clinicians will want to make absolutely sure that the child is tested to see if the atypical genitals have been caused by Congenital Adrenal Hyperplasia (CAH). CAH is a condition that can sometimes involve a metabolic problem called “salt-losing,” and a newborn with a salt-losing form of CAH can become very sick or even die, if the child does not receive proper medical care. In such a circumstance, the atypical genitals essentially constitute a symptom of a serious medical problem (CAH). (Incidentally, children born with typical-looking genitals can also have CAH, which is why most states now have mandatory newborn screening for CAH.)

If a child is born with atypical genitals, clinicians will also want to make sure that the child’s urinary drainage system is working correctly. This can help determine if a child is at an unusually high risk for urinary tract infections. The clinicians may also see whether there are any problems with the child’s reproductive organs that might need attention now or in the future to increase the child’s chances of fertility in adulthood.

If a newborn with ambiguous genitalia is also found to have “dysplastic gonads” (gonads that didn’t form as gonads normally do) or ovotestes, clinicians will be concerned that the gonads could be cancerous and they will typically schedule surgery early to remove the dysplastic gonads or the testicular portion of ovotestes.

Depending on where you live, you may be able to find competent, compassionate medical professionals with expertise in DSD through your local medical center, particularly through your region’s children hospital. A good specialty to start with is pediatric endocrinology because that field’s training includes substantial education in DSD. (You can call and ask for an appointment with a pediatric endocrinologist.)

Accord Alliance is working to ensure that all regions benefit from high-quality team DSD care, but you should be aware that not all regions currently have organized DSD teams. This means that not all pediatricians and pediatric specialists will be aware of the latest medical consensuses and resources available on DSD. For that reason, we recommend that when you meet with a physician or other medical professional to talk about your child’s care, you try to bring the following copies with you:

1. the 2006 consensus for DSD care supported by the American Academy of Pediatrics (click here to download a copy);
2. Quality Care Indicators for DSD care (available by clicking here);
3. Handbook for Parents (available as a downloadable PDF by clicking here);
4. Clinical Guidelines for the Management of DSD in Childhood (available as a downloadable PDF by clicking here).

We also recommend that you encourage all of your child’s doctors (including his or her primary pediatrician) to visit our website to find free resources available to support them as they care for your child.

If you have health insurance and have a specific DSD diagnosis, try contacting the patient helpline of your insurance company to ask for the kind of physician you need to help you. If you’re not sure what kind of physician that is and you are a woman, ask for a specialist in Reproductive Endocrinology or Gynecology. If you’re not sure what kind of physician to ask for, and you are a man, ask to see a specialist in Reproductive Endocrinology or Urology. (Don’t be concerned that the term “Reproductive Endocrinology” suggests you’re interested in reproduction; that’s just the official name for endocrinologists who specialize in issues of sex hormones.)

Also take note that support groups for DSD often know of competent and compassionate specialists. You can visit their websites and contact them for help. (Click here for a list of support groups.)

There’s also the option of helping physicians you already know, respect, and trust become more educated in your particular condition. It’s not uncommon for people with DSD to have researched their conditions so much that they can educate their doctors by bringing them important information and asking them to research the medical literature to learn more. Good doctors are always interested in learning more and helping coordinate quality care for their patients. And if you turn a doctor into a specialist in DSD, you’ve helped create a specialist for other patients like yourself.

“Aphalia” literally means “without a phallus,” so it refers to when a male is lacking a penis, or when a female is lacking a clitoris. The term most commonly refers to the condition when a male is born without a penis. This is called “congenital aphalia.” If a boy or man is subject to an accident (like an attack by a dog) that causes him to lose his penis, he is said to have “acquired aphalia.”

The location of the urinary opening varies in cases of congenital aphalia. There is also variation in the rest of the anatomy in cases of this type. As with all DSD, individualized attention is required to figure out the anatomy and physiology, and to figure out what care the patient needs.

Androgens are a type of hormone. They are sometimes called “masculinizing” hormones because relatively high levels of androgens in the womb usually make a fetus’s genitals develop as the male type. Testosterone is one type of androgen that is produced by the testes. The adrenal glands – organs that both males and females have in the back of their bodies above the kidneys – also make androgens.

For androgens to have an effect on the body, it isn’t enough for the body to make the androgens; the cells in the body have to be able to respond to those androgens. Sometimes, though, a person’s cells do not respond to androgens because her or his cells lack “androgen receptors.” (Think of it has having a set of keys but no locks to put the keys into.)

Androgen Insensitivity Syndrome (AIS) is a condition in which the cells of a person’s body do not respond in the usual ways to androgens because the person’s cells lack the receptors.

If a girl or woman has complete AIS, that means that, so far as we know, her body does not respond to any androgens. In such a case, the girl or woman has an XY chromosomal component, which is usually found in males. In the womb, she developed testes. The testes started making testosterone. But her body lacked the receptors to respond to that testosterone. As a consequence, her genitals developed much more along the lines of the typical female pathway. She developed labia, a vagina, a clitoris, and so on. Her brain development would also be much closer to the female typical pathway (except insofar as the typical female – who is XX and has androgen receptors – will have had some androgen effects on her brain because her adrenal glands make androgens to which her brain cells respond).

Many women with complete AIS report that they were not diagnosed until well into puberty. That’s because often no one suspects a DSD until they go through puberty and don’t menstruate. When girls with complete AIS reach puberty, their testes function as testes normally do at puberty: they generate higher levels of testosterone. But again, the cells cannot respond. Usually some of that testosterone is converted to estrogen, a hormone to which their bodies can respond. As a consequence, these girls may at puberty develop the rounded breasts and hips typical of females. They do not develop the typical quantity of body hair (pubic, arm, armpit, and leg hair), because that requires androgen receptors. They do not menstruate because they do not have ovaries or a uterus.

It is also possible for a person with XY chromosomes to have incomplete or partial AIS. In those cases, how many male-typical or female-typical (or in-between) characteristics the person develops will depend on her or his particular condition.

The main support group for AIS in the United States is the AIS-DSD Support Group. For the website of the AIS-DSD Support Group, click here. The main support group for AIS in the United Kingdom is the Androgen Insensitivity Syndrome Support Group (AISSG). For the website of the AISSG in the UK, click here.

Ordinarily when a fetus is genetically male (has 46,XY chromosomes), this is how development happens: Early in fetal development, the proto-gonads (cells that will become gonads) become testes. The testes start putting out testosterone. The fetus’s body makes a chemical enzyme called 5-alpha reductase (5-AR), and the 5-AR converts some of the testosterone into dihydrotestosterone. The dihydrotestosterone contributes to the fetus’s genitals developing as the male type.

When the typical boy reaches puberty, the testes make a lot more testosterone. The enzyme 5-AR isn’t needed at this point for the testosterone to have an affect on the body. So the boy’s body matures along the male pathway. The boy’s penis grows, his voice drops, he develops male-typical face and body hair and male-typical musculature.

If a fetus has 5-AR deficiency (5-ARD), that means that the fetus’s body lacks the enzyme 5-AR. So, early in development, the proto-gonads become testes and they start to make testosterone. But because the enzyme 5-AR is missing, the testosterone doesn’t become dihydrotestosterone. As a result, the fetus’s genitals form more like the typical female’s. When the child is born, the genitals may look ambiguous or fairly female-typical. (In some cases, children with 5-ARD have been assumed to be females and have been raised female.)

At puberty, the child’s testes will make lots more testosterone. Remember now the enzyme 5-AR isn’t necessary for the testosterone to have an affect on sexual maturation at this point. So the child (regardless of which gender the child was raised as) will undergo a male-typical puberty. The phallus will grow to look bigger, more like a penis, the voice will drop as it does in a typical male, the child will develop male-typical face and body hair and male-typical musculature.

The adrenal glands are hormone-producing glands that both males and females have. They are located in the back of our bodies, above our kidneys. The adrenals are important in part because they help our bodies respond to stress.

Congenital adrenal hyperplasia (CAH) is an inborn condition in which a person’s adrenal glands don’t work normally. People with CAH are missing an enzyme that is needed for the adrenals to do their job. Some forms of CAH are very serious and require intense medical management. Some are less severe but still require monitoring. Most states now require newborn screening for CAH because CAH can be a very dangerous disease.

The adrenal glands make androgens, which are sometimes called “masculinizing hormones.” The adrenal glands are not the only organs that make androgens; for example, the testes also make testosterone, which is a type of androgen. High levels of androgens usually lead to male-typical development in the womb, while low levels usually lead to female-typical development.

If a female (46,XX) fetus has a certain form of CAH, the CAH may cause her to develop along a more male-typical pathway. She may be born with genitals that are a little bit – or very much – “masculinized.” Her clitoris may be large, her labia may be joined more like a scrotum, and her vagina may not be fully formed, or may be joined with her urethra. The sex development of (46,XY) fetuses is not affected by CAH.

So is CAH a DSD? Recall that DSD are defined by the medical community as “congenital conditions in which development of chromosomal, gonadal or anatomic sex is atypical.” Because CAH does not always result in the development of atypical anatomic sex, CAH is not a DSD. But CAH can, in the case of some females, involve a DSD.

The types of CAH include 21-hydroxylase deficiency, 3-beta-hydroxysteroid dehydrogenase deficiency, and 17-beta-hydroxysteroid dehydrogenase deficiency.

There are some forms of CAH that are “late onset,” meaning they do not develop to be noticeable until during puberty or later.

The main support group for the metabolic disease aspects of CAH is the CARES Foundation. Click here to visit their website.

The main support group for the DSD aspects of CAH is the AIS-DSD Support Group. Click here to visit their website.

Most girls and women have two X sex chromosomes (so we say their chromosomal component is “46,XX”). Most boys and men have an X sex chromosome and a Y sex chromosome (“46,XY”). Klinefelter syndrome occurs when a person is born with at least one Y chromosome and multiple X chromosomes. So the typical case of Klinefelter syndrome involves 47,XXY.

Klinefelter syndrome is fairly common; it is estimated to occur once in every 500 males. Boys and men born with Klinefelter syndrome typically will have smaller-than-average testicles and low fertility. (Various technologies can be used to promote assisted reproduction.) There are some other differences associated with Klinefelter syndrome, including some learning and behavioral differences, but the effects from Klinefelter syndrome vary substantially. Some affected boys and men show very few signs of having Klinefelter syndrome, while others show more signs, including gynecomastia (more female-type breast development) following puberty.

The suffix “hypo” means “under.” When it is used in medical terminology, it usually means that an organ is producing levels lower (under) the normal range. “Hypogonadism” therefore signals a condition in which a person’s sex hormone levels are lower than the normal range.

The hypothalmus is a region of the brain that can affect levels of sex hormone production. “Hypothalamic hypogonadism” therefore means that, because the hypothalmus is working differently than usual, a person is producing lower levels of sex hormones than usual. Hypothalamic hypogonadism is also called “Kallman syndrome.” It is more commonly found in males (XY) than females (XX).

Usually Kallman syndrome is congenital, which means that it is present from fetal development onward. The low level of sex hormones results in atypical sex development, including a delayed puberty. Males with Kallman syndrome are typically born with small penises and undescended testicles (called cryptorchidism).

Kallman syndrome also involves a decreased or absent ability to smell. (A lowered sense of smell is called hyposmia, and the absence of a sense of smell is called anosmia.) In rare cases, a person can develop hypothalamic hypogonadism after puberty.

Most people have 46 chromosomes in each of their cells, and two of those 46 chromosomes are sex chromosomes. Most girls and women have two X sex chromosomes (so we say their chromosomal component is “46,XX”). Most boys and men have an X sex chromosome and a Y sex chromosome (“46,XY”).

Turner syndrome is a condition in which a person’s cells contain the chromosomal component 45,X. In other words, she has one X chromosome instead of two. (Sometimes this is written “45,X0.”)

Some people with Turner syndrome actually have sex chromosome mosaicism, meaning that not all their cells have the same component of chromosomes. This is called “mosaicism” because it is sort of like the body is made up of a varied set of colored tiles, rather than a single-colored set of tiles. When a person has more than one component of sex chromosomes, the person is said to have “sex chromosome mosaicism.” Some people have 45,X in some of their cells and 46,XX in others, or more rarely 45,X with 46,XY.

The main support group for Turner syndrome is the Turner Syndrome Society. Click here for their website.

Fetuses begin with two kinds of internal reproductive systems, one of them called Mullerian and the other Wolffian. In typical female development, the Wolffian structures disappear and the Mullerian structures form the uterus, Fallopian tubes, and upper part of the vagina. In typical male development, the Mullierian structures disappear and the Wolffian structures grow and develop into various male-typical parts, including the prostate and vas deferens.

If a male (46,XY) fetus has persistent Mullerian duct syndrome (PMDS), then as the name implies, his Mullerian structures will persist and grow rather than disappearing during development. The male with PMDS will develop the usual male structures internally and externally, but in addition, he will also develop some internal structures that are female-typical. These may include a uterus and Fallopian tubes. Sometimes this condition also involves failure of the testicles to descend (cryptorchidism).

“Virilization” is a medical term for development that is male-like. “Progestin-induced virilization” refers to a situation in which a woman who is pregnant with a female fetus (46,XX) ingests drugs called progestins that cause the female fetus to be virilized, i.e., to develop more along the male pathway. This can result in the child’s clitoris being larger than usual and may cause the labia to join together, like a scrotum. The child may also develop in such a way that her urethra and vagina are joined into something called a urogenital sinus.

Thus progestin-virilization results in what physicians call “ambiguous genitalia.” (Progestin-induced virilization is only one of many causes of ambiguous genitalia.)

In the past, women were sometimes given progestins to prevent miscarriage. In some circumstances, this led to their female offspring being virilized in the womb. Today, progestin virilization sometimes occurs because a woman takes a drug to treat her own severe endometriosis, and does not realize she is pregnant. If she is pregnant with a female, progestin virilization may occur.

Most people have 46 chromosomes in each of their cells, and two of those 46 chromosomes are sex chromosomes. Most girls and women have two X sex chromosomes (so we say their chromosomal component is “46,XX”). Most boys and men have an X sex chromosome and a Y sex chromosome (“46,XY”).

But some people have “mosaic” chromosomes, meaning that not all their cells have the same component of chromosomes. This is called “mosaicism” because it is sort of like the body is made up of a varied set of colored tiles, rather than a single-colored set of tiles. When a person has more than one component of sex chromosomes, the person is said to have “sex chromosome mosaicism.”

So, some people have 46,XX in some cells with 46,XY in other cells. Some may have 46,XY in some cells and 47,XXY in other cells. Some may have 45,X in some cells and 46,XX in others. Many other variations are possible.

A common misperception is that all forms of DSD involve sex chromosome mosaicism. In fact, only a few forms of DSD appear to involve sex chromosome mosaicism.

“Genesis” means the origin and growth of something. Adding the prefix “dys” to a word generally means you’re indicating something hasn’t worked as it should have. So “dysgenesis” means “not developed correctly.”

Gonadal dysgenesis refers to the situation when a person’s gonads (ovaries or testes) did not develop properly during fetal development. Sometimes dysgenic gonads are referred to as “streak gonads” because they resemble streaks of cells rather than looking ball-like, as testes and ovaries normally look.

Dysgenic gonads do not function like ovaries or testes. They are not capable of contributing to reproduction. In some circumstances, they represent a high risk of gonadal cancer, and so they are surgically removed soon after diagnosis.

There are a number of different DSD that can result in gonadal dygensis, including Turner syndrome and Swyer syndrome.

“Genesis” means the origin and growth of something. Adding the prefix “a” to a word generally means you’re adding a “not.” So “agenesis” means “not developed.” “Vaginal agenesis” is the name for when a girl or woman did not develop a vagina when she was growing as a fetus in her mother’s womb.

Please note that, although some people use the term “vagina” when they are talking about female external genitalia, the medical term for female external genitalia is actually “vulva.” “Vagina” is the specific name for the tube that runs from the perineum to the uterus. It is the organ through which babies are born, and the organ used for penis-vagina sexual intercourse. The cervix sits at the juncture of the vagina and the uterus.

There are a number of causes of vaginal agensis. (One common origin is a condition called MRKH syndrome, which is described in the next FAQ.) If a girl is born with vaginal agenesis, it is important that she be seen by pediatric specialists who can determine if she has any of the other development anomalies that sometimes accompany vaginal agenesis. A notable percentage of girls with vaginal agenesis also have atypical kidney development. Some girls with vaginal agenesis have uteruses, but others have not developed uteruses.

In the past, doctors often recommended that girls without vaginas have vaginas surgically constructed for them in early childhood. Nowadays the consensus is that it is better to wait until a girl is older if she is going to have surgical construction of a vagina. The surgical outcomes are better when done later, and holding off also allows the patient to participate in the decision-making and to herself do the after-care necessary with this type of surgery. Non-surgical options may also be available to some girls and women with vaginal agenesis. Pressure dilation is one of the non-surgical techniques that can sometimes be considered for vaginal enlargement.

Fetuses begin with two kinds of internal reproductive systems, one of them called Mullerian and the other Wolffian. In typical female development, the Wolffian structures disappear and the Mullerian structures form the uterus, Fallopian tubes, and upper part of the vagina.

Sometimes a genetic female (46,XX) will have the DSD called MRKH Syndrome (formally known as Mayer-Rokitansky-Kustner-Hauser Syndrome). In the case of MRKH, the Mullerian system does not develop in the typical fashion. A girl born with MRKH may be missing part or all of the vagina, the uterus, and the Fallopian tubes. MRKH Syndrome sometimes also involves kidney anomalies, skeletal issues, hearing problems, and in rarer cases, anomalies of the heart and of the fingers and toes.

The main support group for MRKH is the MRKH Organization. Click here for their website.

Under this section of our FAQ, you will find basic explanations for some of the types of DSD. Several dozen conditions count as “disorders of sex development” (DSD). Remember that DSD are defined by the medical community as “congenital conditions in which development of chromosomal, gonadal or anatomic sex is atypical.” So “DSD” is an umbrella term covering a wide variety of conditions in which sex develops differently from typical male or typical female development.

It is impossible to give a precise number of conditions that count as DSD for several reasons: (1) Some conditions might legitimately be grouped as one general type or counted individually, and so the total number of DSD would differ depending on how you count. So, for example, there are many variations on genetic mosaicism of sex chromosomes (some people have XX/XY; some have XO/XY; and so forth), and we’d have to decide whether to count those variations as one DSD or several. “Gonadal dysgenesis” may similarly be used to refer to a number of different developmental conditions. (2) Some conditions in some circumstances lead to atypical sex development and in other cases do not. Congenital Adrenal Hyperplasia is one such condition. (3) Medical scientists are still finding new and sometimes subtle variations on various DSD.

DSD is an umbrella term covering so many different conditions that it is impossible to answer this question briefly. Some DSD are essentially benign and involve very little medical risk; others arise from or involve problems with metabolism that may require medical attention. If you’re concerned about the medical risks associated with a particular disorder of sex development, it is best to look to the medical literature (or ask a clinical specialist) about that particular condition.

In general, when a DSD is suspected, clinicians are concerned about making sure that whatever caused the DSD isn’t also causing (or isn’t in the future going to cause) a medical problem that might make the patient sick.

So, for example, if a child is born with atypical genitals (meaning genitals different from typical male or female genitals), clinicians will want to make absolutely sure that the child is tested to see if the atypical genitals have been caused by Congenital Adrenal Hyperplasia (CAH). CAH is a condition that can sometimes involve a metabolic problem called “salt-losing,” and a newborn with a salt-losing form of CAH can become very sick or even die if the child does not receive proper medical care. In such a circumstance, the atypical genitals essentially constitute a symptom of a serious medical problem (CAH). (Incidentally, children born with typical-looking genitals can also have CAH, which is why most states now have mandatory newborn screening for CAH.)

If a child is born with atypical genitals, clinicians will also want to make sure that the child’s urinary drainage system is working correctly. This can help determine if a child is at an unusually high risk for urinary tract infections. The clinicians may also see whether there are any problems with the child’s reproductive organs that might need attention now or in the future to increase the child’s chances of fertility in adulthood.

If a child or adult is diagnosed as having “dysplastic gonads” (gonads that didn’t form as gonads normally do), or as having ovotestes, clinicians will be concerned that the gonads could be cancerous and they will typically schedule surgery quickly to remove the dysplastic gonads or the testicular portion of ovotestes. Undescended testicles may also increase risk of testicular cancer, particularly after puberty, so undescended testicles typically need to be monitored, surgically descended, or in some cases removed. Some other forms of DSD also may involve an elevated risk of reproductive cancers, for example an increase of risk of Mullerian cancers.

That said, again, many DSD are essentially benign and involve very little medical risk. Individualized care is critical for a proper assessment of medical risk and a good plan for managing those risks.

It is worth noting here that some surgical and hormonal interventions provided to people with DSD may themselves increase risk of medical problems. Careful consideration of the necessity, benefits, and risks of various interventions is critical for affected individuals and for parents who make decisions about medical interventions for their children. “Watchful waiting” will in some circumstances constitute a low-risk medical option for concerns that present some risk but do not represent a medical emergency.

“Ambiguous genitalia” is the medical term for when a child is born with genitals that are neither typical for a male nor typical for a female, but are somewhat in-between. For example, the phallus may have developed to be something in-between a typical penis and a typical clitoris. (The clitoris and the penis are developmental “homologues,” which means they develop from the same set of fetal cells. This is why a person may have a phallus that develops half-way between a penis and a clitoris – because it is like going down a middle path of sex development.) In cases of ambiguous genitalia, a child may be born with structures that look something in between labia majora and a scrotum. (This is because the labia majora and scrotum are homologues.)

Sometimes a child can be born apparently missing certain elements of the genitals. For example, in a case of congenital aphalia, a child is born without a phallus, even though he may have a scrotum with testes. In some other types of DSD, a girl may be born apparently without a vaginal opening.

Sometimes a child can be born with what appears to be elements of both sexes. For example, a child may be born with labia majora that seem to contain gonads, the way a scrotum typically contains testes. (In such a case, the gonads may be herniated ovaries, or they may be testes or ovotestes.) Or a child may be born with a large clitoris that looks something like a penis, along with labia majora and a vaginal opening.

Many different DSD can result in the development of ambiguous genitalia.

“Clitoromegaly” is a medical term meaning that the clitoris has grown larger than is typical in girls. Sometimes clitoromegaly happens during fetal development because of a DSD, so that a girl is born with a large clitoris. Sometimes clitoromegaly occurs during puberty, or even later in life, because of an underlying hormonal shift that is atypical.

Clitorises naturally vary in size, just like breasts and penises also do. There is nothing dangerous about a large clitoris, although it might signal an underlying medical problem (like a hormonal imbalance) that needs medical attention. In cases of clitoromegaly, it is important to work with a medical specialist who can figure out whether there are any underlying hormonal problems that require medical attention to keep the patient healthy.

The clitoris is what’s called the “homologue” to the penis. That means that, during fetal development, the clitoris and penis grow from the same set of cells. So the organ that in males typically develops in utero into a penis, in females typically develops into a clitoris. Sometimes a girl is born with clitoromegaly because, during the time her genitals were forming in the womb, her body was exposed to more “masculinizing” hormones than is typical. Sometimes a girl experiences clitoromegaly during puberty because her body is either making or being exposed to higher-than-typical levels of “masculinizing” hormones.

When we are talking about “clitoromegaly,” we are speaking about the size of the part of the clitoris that is visible outside the body. This part is sometimes called the external clitoris. Much of the clitoris is actually contained inside the body, extending inward from the external clitoris.

The clitoris is a sexual organ and is the chief organ responsible for orgasm in women. Even in the relatively uncommon situation when a woman reaches orgasm via penetration of the vagina without external clitoral stimulation, that is often because her internal clitoris is being stimulated through pressure conveyed through the vaginal wall. When a woman is sexually excited (consciously or unconsciously), her clitoris will typically become engorged with blood, so that it will become warmer and larger. It is normal for clitorises to become flaccid and erect (temporarily smaller and larger), like penises.

“Micropenis” is a medical term typically today applied when the length of a penis, when the penis is stretched, is at least 2.5 standard deviations smaller than the average penis length when stretched. (The reason we use “when stretched” is because there is a lot of variation from male to male between flaccid penis length and erect penis length. The “when stretched” length measurement is an attempt to standardize the measurement of penises.) By this definition, men and boys whose penises fall in the smallest 0.6% (smallest 6 in a sample of 1000) are said to have the condition “micropenis.”

In practice, some medical texts have defined micropenis in newborns as involving stretched penis lengths of 2.5 centimeters (about 1 inch) or less. Other texts say the definition of micropenis is newborn stretched penis lengths of 1.9 centimeters (about 3/4 inch) or less.

Sometimes adults are surprised at how small baby boys’ penises look, because adults are used to seeing adult male genital proportions, not infant male genital proportions. So newborn boys often look to adults like they have smaller-than-average penises even when they in fact have average-sized penises.

The penis typically grows relatively more than the rest of the body at puberty. That is because the tissue of the penis is very sensitive to the hormones that surge during the typical male puberty. So the big hormonal shift that happens at the typical male puberty usually makes the penis grow more than the rest of the body. How much the penis will grow at puberty varies in males and is not easily predicted.

Sometimes obesity can make a boy or a man appear to have a smaller penis than he really does. This is because the surrounding fat of the abdomen makes the penis project outward from the body less than it otherwise would.

Micropenis can be caused by a number of different conditions. Figuring out the cause requires a series of medical tests.

The short answer is this: sex is about your body, gender is about who you feel yourself to be, and sexual orientation is about to whom you’re attracted sexually.

Now here’s the longer answer:

“Sex” is the term we use to refer to a person’s sexual anatomy (his or her sexual body parts). So if a doctor were to say that a girl is female in terms of her sex chromosomes, her sex organs, and hormonal make-up, the doctor is referring to the girl’s sex (her body).

People with disorders of sex development (DSD) are born with a sex type that is different from most men’s and most women’s. Rather than being male typical or female typical, people with DSD have one or more sex atypical traits. That means a woman with DSD has some sex traits that are relatively unusual for females, and that a man with DSD has some sex traits that are relatively unusual for males.

Recall that disorders of sex development are defined by the medical community as “congenital conditions in which development of chromosomal, gonadal or anatomic sex is atypical.” So DSD is an umbrella term covering a wide variety of conditions in which sex develops differently from typical male or typical female development.

“Gender” is the term we use to refer to how a person feels about himself as a boy/man or feels about herself as a girl/woman. Gender identity is the term for how a person self-identifies in terms of being a boy/man or girl/woman. When you say, “I’m a man,” you are stating your gender identity.

Gender role refers to social roles that are assigned by a society according to gender. (In the U.S., gender roles have been changing a lot in the last hundred years, as society has become less restrictive about what roles men and women may take on.) Gender assignment is the social process by which children are labeled girls or boys at birth. So when someone announces at a birth, “It’s a girl!”, that’s a part of that girl’s gender assignment.

“Sexual orientation” is the term we use to refer to a person’s sexual (erotic) feelings. So when we talk about a person being homosexual, heterosexual, or bisexual, or gay, straight, or bi, we are talking about that person’s sexual orientation.

Statistically speaking, most females are anatomically sex-typical, they gender-identify as women, and they are sexually oriented towards men. Statistically speaking, most males are anatomically sex-typical, they gender-identify as men, and they are sexually oriented towards women. But there are many alternatives to these combinations of sex, gender identity, and sexual orientation in the human population, because human development is very complex.

No. “Transgender” means a person feels the gender assigned to him or her at birth was not the right one for him or her. DSD is, by definition, about atypical development of a person’s body, not about how a person feels about herself or himself. (Recall that DSD are defined by the medical community as “congenital conditions in which development of chromosomal, gonadal or anatomic sex is atypical.”)

Although it is certainly possible that a child born with DSD will eventually identify as a transgender person, it is also possible for children born without DSD to eventually identify as transgender. Most people with DSD are not transgender, and most transgender people have no identifiable DSD.

No. Being a man or a woman is a matter of gender identity, not a simple matter of a chromosomal algebra. Certainly the genes on our chromosomes contribute to our development, but they don’t simply dictate our gender identities as boys or girls, men or women.

The X and Y chromosomes are called “sex chromosomes” because they contribute to how a person’s sex develops. Most males have XY chromosomes and most women have XX chromosomes.

But there are girls and women who have XY chromosomes. This can happen, for example, when a girl has androgen insensitivity syndrome. And there are boys and men who have XX chromosomes. This can happen, for example, when a gene on the Y chromosome ends up on an X chromosome, causing that X chromosome to function more like a Y.

There are genes on chromosomes other than the X or Y that also contribute to sex development. Because of all this, the term “sex chromosomes” is really something of a misnomer. Just looking at whether a person has XX or XY (or some other variation) won’t tell you conclusively about that person’s sex development, and it certainly won’t tell you about that person’s gender identity.

It is worth remembering that most of us know whether we are men or women even though we have no idea what our “sex chromosomes” are. Gender identity is about who you know yourself to be, not about how your sex chromosomes look on a microscope slide. Doctors look at the “sex chromosomes” of people with DSD as part of coming up with a diagnosis, but they don’t treat the “sex chromosomes” alone as a simple answer to anything. Our “sex chromosomes” are just part of the picture of who we are.

Sometimes a woman athlete finds her sex being called into question because she seems so fast or so strong that people suspect she has a more male-like physique, or because her genitals appear to someone who has seen them to be atypical for a female. In such cases, the athlete may have a disorder of sex development (DSD). Because some disorders of sex development can theoretically convey a competitive advantage to a woman athlete, sports officials have been struggling with how to manage this issue.

Is a woman athlete with a DSD really a man? No. Whether you are a man or a woman is a matter of your gender identity, that is, who you see yourself to be.

Absolutely. Many have!

Whether a person with a DSD can have children biologically depends on her or his particular condition. Some forms of DSD present no challenge to having children biologically as a female or a male. Reproductive technologies are improving the chances for people with other forms of DSD. And of course all people with DSD can become adoptive parents.

Some forms of DSD have their bases in genetics (in an individual’s genetic make-up). In some of those cases, the genetic basis for the DSD might run in the family. For example, congenital adrenal hyperplasia and 5-alpha reductase deficiency can run in families. In some cases of genetically-caused DSD, the DSD is caused by a “random mutation,” or a genetic chance. (By the way, we all have random mutations in our genetic codes, although some of those mutations never become apparent to us because they don’t result in any noticeable change.)

Some DSD may be caused by environmental factors. For example, if a woman is pregnant with a male fetus and accidentally ingests a drug that dampens down androgens (like some hair loss medications for men do), that can cause the fetus to develop in an atypical fashion.

Many people with DSD never find out what caused their particular sex atypicality. Human sex development is very complex.

We recommend that you start by going to our page of resources for patients and families, by clicking here. There you’ll find a link to an animation that helps you see how sex develops, and also a link to our Handbook for Parents (available at no charge). You might also find it helpful to review our FAQ.

If you would like information about peer support groups for DSD, please go to our relevant page by clicking here.