Management of Intersex Disorders

A Guide through the
Consensus Statement on Management of Intersex Disorders
for Individuals with Disorders of Sex Development
and their Families

Ellen Jones (1) and Tom Mazur (2)

(1) Genital Reproductive Anomalies in Children (GRAC) Consultant, The MAGIC Foundation
(2) Clinical Associate Professor of Psychiatry and Pediatrics, School of Medicine, State University of New York at Buffalo

    Over the last few years, there has been much controversy about how to best medically and psychologically manage the care of individuals born with atypical internal and/or external genitals. Because of this controversy, experts and patient advocates gathered together to form a consensus as to a “best practice model” of care. The purpose of this document is to bring this best practice model to the attention of individuals with a disorder of sex development (DSD) and to their families.
    The sequence of the question and answer format used below does not strictly follow the order in the Consensus Statement.  What follows here is a line of questioning that affected individuals or family members may ask.

QUESTION: Why is the Consensus Statement important for parents to read?
ANSWER: The purpose of the Consensus Statement is to pull together the most current professional knowledge from those who care for individuals with reproductive anatomies (i.e. internal reproductive structures or external genital appearance) that vary from the typical. Fifty international experts came together in Chicago in October of 2005 to discuss how best to care for such persons. Two patient advocates were in attendance as well. 
    The Consensus Statement does not mean 100% agreement by the experts on all issues. It is a document that reflects what is currently known about intersex conditions and is based on the current body of knowledge on how best to care for individuals with various conditions of intersexuality.  As such, the information found in the Consensus Statement is not the final word. It is best thought of as a work in progress that will change as more knowledge becomes available. We hope this document will serve as a helpful guide for parents and individuals seeking assistance in understanding the work of this group of professionals.
    Their work is summarized in the article called “Consensus statement on management of intersex disorders”. This article, published in Pediatrics1 and Archives of Disease in Childhood,2 is written for professionals. The language is medical and may not be easily understood by non-medical persons. While you are encouraged to obtain this article and are given the full reference at the end, this summary provides an overview in terms that are easily understandable. It is hoped that by reading this summary of the Consensus Statement you will be prepared to quickly understand what your doctor tells you and that you will be in a better position to know what additional questions to ask him or her. It is suggested that you make copies of this summary, as well as the original Consensus Statement to give to your doctor. Dialogue about these articles may serve as a starting point to share information and to ask questions, which can only result in the best care possible.

DISORDERS OF SEX DEVELOPMENT

QUESTION:  Why did these experts want to use a new name, disorders of sex development (DSD), instead of the other names?
ANSWER: DSD refers to conditions that occur when an individual is born with either atypical external sex organs or atypical internal sex organs. DSD also includes those conditions in which  the sex chromosomes are different from the ones typically expected (46,XY or 46,XX), and/or the gonads (ovaries, testes) are different from what is expected based on the body appearance.  The thinking was that that the traditional terms like intersex, hermaphroditism, birth defect of the sex organs, and ambiguous genitalia were confusing to doctors, parents, and individuals. Former patients felt that these terms were insensitive and negative, sometimes producing a sense of shame or freakishness. It is hoped that by using the term DSD, (1) doctors will become more sensitive to patients; (2) the term will more accurately reflect medical knowledge as more becomes known about DSDs, and (3) the term will be more acceptable to patients who may feel that the former terms are unclear or negative.

QUESTION: What conditions does DSD include?
ANSWER: There are many conditions. Some of the most common are: congenital adrenal hyperplasia (CAH), complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), Turner syndrome and Klinefelter syndrome.  If you want to know if you or your child has a DSD, it is best to ask your doctor.

DIAGNOSIS AND CARE OF CHILDREN WITH DSDs

QUESTION:  The doctors told us that they are not sure whether our baby is a girl or a boy. This is upsetting to us. What is the best care for our baby in this situation?
ANSWER:   What happened to you is not uncommon. Infants born with a DSD are most often recognized at birth or in the newborn period because the telltale sign of a DSD is atypical appearing genitalia.  Uncertainty about whether the infant is a boy or a girl is stressful and unsettling for parents. In order for you and your baby to receive the best possible care, the following is recommended:

• Your child will be evaluated at a center which has a multidisciplinary team of professionals knowledgeable and experienced in the management of individuals with a DSD.
• This multidisciplinary team will include pediatric specialists in endocrinology, surgery, psychology/psychiatry, gynecology, urology, genetics, neonatology, social work, nursing, and medical ethics; composition may vary depending on local resources, and the diagnosis and age of your child.
• This team openly communicates all information about your baby so that you feel no information is being withheld. The team stays in touch with your child’s primary care physician.
• This team incorporates your questions and concerns into the evaluation.
• The team respects and encourages dialogue and your active participation in the decision-making process regarding the gender assignment of your child.
• Participation requires that you be educated about the process of how the internal sex organs and external sex organs develop before birth. It is also extremely important that a professional explains all of the findings from the medical evaluation to you. Web-based information may be helpful. An example given is http://www.sickkids.ch/childphysiology/cpwp/genital/intro.html
• Gender assignment is made as quickly as possible, but not made so fast that you feel you did not have enough time to think about the information given to you and to ask questions.
• Confidentiality is important! It is a rule of medicine out of respect to the patient; it honors privacy. Confidentiality should be followed by the team for these reasons, not because a DSD is shameful and should not be talked about or kept hidden. 

    From the beginning, the spirit created by the team is one of encouragement and empowerment. With help and time, you will be able to tell your child all of the facts of the condition.

QUESTION: How does this team decide whether my child is a boy or a girl?
ANSWER: The answer to your question is not an easy one, and it is not one that can be fully answered here. Many factors, including biological and non-biological factors, need to be considered in making this decision. It is important that your views and perspectives also be included in the decision-making process. The decision should also take into account what is known about gender outcome in adulthood for infants with a specific DSD who were gender assigned in the newborn period. In other words, does the adult maintain the gender assigned to him or her in infancy or is there a chance that they will change gender? For some DSD conditions (e.g. congenital adrenal hyperplasia, complete and partial androgen insensitivity syndromes), there are data on the frequency of a person changing gender from the one they were assigned at birth.

PSYCHOSEXUAL DEVELOPMENT

QUESTION:  What do you mean by “gender assigned”? Isn’t it “sex assigned”?
ANSWER:  No, gender is the correct term.  The term sex refers to biological aspects which have already been determined for your baby. For example, your baby has either XY chromosomes or XX chromosome, or, perhaps, some other pattern such as 45,X, 47,XXY, or 45,X/46XX. What is not yet determined is your baby’s identification as male or female. This is called gender identity. The team, with your help, will make a decision as to what they think the infant’s gender identity will be in adulthood. Gender identity is defined as the subjective conviction that a person has of him/herself as being male or female. Gender identity is a developmental process. It is not determined solely by chromosomes, gonads (ovaries or testes), or hormones. The entire process by which a person develops a gender identity is not yet known. What is known is that most people keep the gender to which they were assigned at or shortly after birth. However, later in life, some individuals do change their gender identities. The reasons for this change are not fully understood.

QUESTION: How is gender role different from gender identity?
ANSWER:   Gender identity is subjective or private; it involves how a person experiences him/herself. Gender role is public; others can observe gender role. It includes behaviors that our society classifies as ones that boys do or girls do. For example, girls tend to play dress-up and play with dolls more than do boys. They might role play being mothers or sisters, and girls are often seen as less aggressive. Boys are more likely to enjoy playing with action figures, and role play being dads or brothers. Their play is thought to be more aggressive. 

QUESTION:  If my child becomes a tomboy or a sissy does that mean the gender assignment was wrong?
ANSWER:  No, it does not mean that the gender assignment was wrong or that your child has developed a gender identity different from his/her assigned gender and want to change it. Most children and teens with atypical gender roles identify with the gender they were originally assigned: that is they will develop a gender identity in line with their assigned gender at birth. For example, person assigned as a girl at birth, will feel like a girl and identify as such (gender identity), even if she is a tomboy in behavior (gender role).  Atypical gender roles are more common in children with a DSD than in the general population, but this does not mean that the gender assignment was wrong.

QUESTION:  Is sexual orientation the same as sexual preference?
ANSWER:  Sexual orientation replaces the phrase “sexual preference” because it is clear that people don’t choose to whom they are sexually attracted, which is what sexual orientation means. We usually refer to a person’s sexual orientation as heterosexual, homosexual or bisexual.  If an adolescent or adult develops a homosexual or bisexual orientation, it does not mean that the initial gender assignment was wrong. Individuals, either with or without a DSD, can have firmly established gender identities as male or female and still may exhibit atypical gender roles and/or bisexual or homosexual orientations.

QUESTION:   How do you know if a gender assignment is incorrect?
ANSWER: This is a very difficult question to answer because gender identity, gender role, and sexual orientation –what professionals call psychosexual development - are all influenced by multiple factors such as prenatal exposure to androgens, sex chromosomes, genes, and brain structure. Social circumstances and family dynamics likely also play a role. The causes (or pathways) of psychosexual development are poorly understood.
    What is known is that some individuals with a DSD experience dissatisfaction with their assigned gender. This is called gender dysphoria. A person can experience gender dysphoria to such a degree that they self reassign to the other gender, or simply do not identify with either the male or female gender.  The reasons for this are unclear. Furthermore, it is difficult to predict which person will develop gender dissatisfaction.

QUESTION:  My daughter who has CAH plays only with boys’ toys and doesn’t like to do girl things or wear dresses. Should I be worried about her gender identity?
ANSWER:    Behavioral studies of girls with CAH show that masculine gender role like the one you describe for your daughter is common and is thought to be associated with prenatal androgen exposure.  Tomboyish gender role in girls with CAH does not imply a problem of gender identity.

QUESTION:  If my son or daughter who has a DSD turns out to be gay, does that mean that the gender assignment at birth was wrong?
ANSWER:  No. A person’s sexual orientation is different from one’s gender identity. It is good to keep in mind that a child’s gender identity, gender role, and sexual orientation, although related, are separate components of psychosexual development. Consequently, your child could develop a homosexual orientation, but have no problem or question about gender identity. 

QUESTION:   My child is now saying that she feels uncomfortable in the gender assigned at birth. What should I do?
ANSWER:  Statements by a child or adolescent suggesting a desire for gender change should be taken seriously. A comprehensive psychological evaluation, including a gender evaluation, should be performed. Over time, a mental health professional can help the child explore feelings about gender. One must remember that showing atypical gender role (like being a “tomboy”) does not necessarily mean a problem of gender assignment. These questions must be explored with the child and family. If the desire to change gender persists, the person’s wish should be supported and may require the input of a specialist skilled in the management of gender change.

SURGICAL DECSIONS

QUESTION:  There is consideration of performing clitoral surgery on my child. What does the Consensus Statement say about clitoral surgery?
ANSWER:  The Consensus Statement makes it clear that surgical procedures on patients with a DSD should be performed only by surgeons with expertise in the care of such individuals and who have training specific to surgical procedures relevant to persons with a DSD diagnosis. The surgical management should focus on options that facilitate the chances of fertility.
     With respect to clitoral surgery, the Consensus Statement makes a number of important points. First, parents now appear to be less inclined to choose surgery for their child if the clitoris is not too enlarged. Specialists have their own language for the degree of clitoral enlargement. This is called the Prader Stages named after the doctor who created this classification system. There are five stages, 1-5, with five being the most severe in which the clitoris has developed into a fully formed penis. In the Consensus Statement it is recommended that clitoral surgery “should only be considered in cases of Prader III, IV, and V”. Therefore, if you daughter’s external genital appearance is classified as Prader I or II, surgery is not recommended. 
     The third point is that the focus of such surgery should be on function not cosmetic appearance. Function means keeping the clitoris’s ability to produce orgasms and erection in response to touch. While there is some evidence suggesting a satisfactory outcome for early clitoral surgery, there are reports of problems of (a) decreased sexual sensitivity, (b) loss of clitoral tissue, and (c) cosmetic issues. Scarring may occur at the opening (introitus) to the vagina as a result of surgery and repeated surgeries may be necessary. These are the reasons why the emphasis is now on sexual function and not on how the clitoris looks. Some believe that clitoral surgery, especially when it is performed in the first year of life, is undertaken to relieve the parents of the distress of seeing their daughter with an enlarged clitoris and to improve attachment between the parent and child. There is no evidence for this belief, according to the Consensus Report.

QUESTION:   What about surgery to separate the vagina and urethra? The doctor suggests that this surgery should be done. What does the Consensus Statement say about this? Also, I don’t understand this. How are the vagina and urethra together?
ANSWER: The Consensus Report is recommending early surgery to separate the vagina and urethra. Present evidence is not good enough to stop the practice of early surgery.  The possibility of urinary complications is one justification for performing the surgery.  The Consensus Report bases its recommendation for the timing of genital surgery on guidelines issued by the American Academy of Pediatrics. However, one should understand that the risks of this surgery vary depending on where the urethra connects to the vagina. 
     It is difficult to understand how the vagina and urethra can be connected, especially if one does not have any understanding of the human body and how it develops. Asking a knowledgeable professional to explain this to you by using pictures and diagrams will help you to understand how this happens, what it looks like, and what is involved in the surgery to correct this.

QUESTION:  What is vaginoplasty?  Why would my daughter need this?
ANSWER: The brief answer is that your daughter was born with either an absent or a partial vagina. Depending on her DSD diagnosis, she may need an outlet for menstruation. Individuals with an absent or inadequate vagina assigned and reared female will need creation of a vagina.  There are several surgical ways to create a vagina, some using skin grafts and others using sections of bowel. Professionals usually refer to these surgical methods as “vaginoplasty” (plasty simply meaning to shape, mold, or form). There is another method of vaginoplasty that is non-surgical. This method of creating a vagina is called vaginal dilatation. It consists of using a series of dilators which increase in length and circumference that the person herself uses to create her vagina. The choice of technique depends of the person’s diagnosis. Few women with complete androgen insensitivity syndrome need surgery to lengthen their vagina. Usually they have a vaginal dimple and can create a vagina using the dilatation method.  The Consensus Report states that with “rare exceptions” both the surgical and non-surgical methods “should not” be performed until adolescence when “the patient is psychologically motivated and a full partner in the procedure.”  It is important that the surgeon must be familiar with several operative techniques.” The Consensus Statement also states, “No one technique has been universally successful” and that each has specific “advantages and disadvantages”.  
     One risk of surgery is the risk of “neoplasia”. Neoplasia means new growth of tissue. There are also different risks for surgery depending on where the person’s urethra enters the vagina. Because the choice of vaginoplasty depends on the skill of the surgeon, the diagnosis, and the patient’s psychological readiness, it is best to discuss this issue ahead of time with the professionals caring for your daughter.

QUESTION:  The doctor says my son has hypospadias. What is this?
ANSWER:  Hypospadias occurs when the urinary outlet (pee hole) is not at the tip of the penis. Instead, the opening can appear anywhere on the underside of the penis. Hypospadias is not uncommon in boys and is considered a DSD. Hypospadias can be surgically repaired.

RISK OF CANCER

QUESTION:    Are there certain DSD conditions that increase the risk of cancer?
ANSWER:  Yes. DSD conditions in which there is a “Y” chromosome or a “Y” fragment are at risk for tumors. However, present information based on published studies indicates various degrees of risk. At highest risk are individuals with underdeveloped gonads, called gonadal dysgenesis or gonadal streak. These individuals and those who have the diagnosis of “mixed gonadal dysgenesis” (MGD) should have their gonads removed in childhood. For those individuals with MGD who are assigned female and have two “streaked gonads” and Y chromosomal material, surgery should also be performed in early childhood. Individuals with the diagnosis of PAIS with gonads in the abdomen are also at high risk for tumor development. 
    The lowest risk is found in individuals with ovotestes (a gonad that is both ovary and testis) and those diagnosed with CAIS. Individuals with CAIS and those with PAIS who are gender assigned and reared as female have testes. These testes should be removed to prevent malignancy (cancer) in adulthood. Parents of a child with CAIS may decide whether or not to have their child’s testes surgically removed in childhood or defer to adolescence. Parents should know that the earliest reported malignancy occurred in a 14-year-old girl with CAIS. In addition, all other XY individuals reared female with a DSD should have their gonads removed before puberty.   
 
QUESTION: My son has gonadal dysgenesis, but has a testis in the scrotum. Is he at risk for cancer?
ANSWER:  Yes. The current standard of care recommends a testicular biopsy at puberty to look for signs of a premalignant tumor. If one is found, the tumor can be successfully treated with a localized low dose of radiotherapy. It is a good idea to consider sperm banking before this treatment.

QUESTION: Which DSD conditions have the highest risk of cancer?
ANSWER:  As mentioned above, individuals with the highest risk of tumor are those with Y chromosome material associated with gonadal streaks and those with the DSD known as partial androgen insensitivity syndrome (PAIS) who have gonads (testes) in the abdomen. Individuals with the lowest tumor risk are those with ovotestis (part ovary, part testis) and those with complete androgen insensitivity (CAIS).

HORMONE REPLACEMENT

QUESTION:   I don’t understand why my child will need hormones later in life.
ANSWER:  Not all children with a DSD will need hormones. It depends on the diagnosis. However, it is common for the ovaries or testes in individuals with a DSD to under function, function for a while, or not function at all for various reasons. In these cases, a child will not go into puberty or have only a partial puberty. The hormones that the body needs for puberty will need to be replaced.  Hormone replacement should attempt to produce as normal a puberty as possible for that child. With this in mind, when to start hormone replacement, either estrogen or androgen, is not a fixed or absolute time. It varies depending on the diagnosis, the individual, and the family. This is why it is important that prior to beginning hormone therapy, you and your child need to be educated about (a) what effects to expect from hormone therapy and approximately how long before one sees these effects, and (b) why such treatment will need to be life long and not stop after puberty is complete. 
    The Consensus Statement singled out two specific DSD conditions in regards to hormone therapy. Individuals with PAIS reared male may need greater than normal amounts of androgen to get the best pubertal effect. For girls without a uterus, there is no evidence that there is a benefit to adding progesterone to their daily dose of estrogen.

 PSYCHOSOCIAL NEEDS  

QUESTION:  What is the purpose of the mental health staff worker on the team? My child has a medical problem, not a psychological or mental health issue.
ANSWER: The purpose of a mental health professional is to help you and your child positively adjust to a medical condition. The medical profession no longer views the body and the mind as separate entities.  A person’s physical condition can affect mental attitude and emotional well-being. Likewise how a person thinks and feels can affect physical health. The birth of a baby with a DSD is an emotional and stressful time for parents. After the initial shock, parents must begin to absorb unfamiliar and technical medical information and to make important decisions. At the same time they must deal with all the emotions and thoughts that come with such an event. The mental health professional can be a source of emotional support during this time.
    At the same time, a mental health specialist who is knowledgeable about DSD can help parents understand the language used by medical professionals and the procedures specific to their child, so that they can make the best possible decision regarding gender assignment of their baby. If no gender decision is needed, there are still other decisions to make (e.g. surgery, hormones, what and how to talk to the child).  A parent’s comfort with the diagnosis promotes a positive adaptation for both parents and child. The mental health professional can also aid positive adaptation by identifying families with poor coping skills that may result in less than a positive outcome for the child and family. This professional can help the family either to overcome these obstacles or refer the family to other professionals or support groups.
    In addition, the mental health professional can help parents to learn how to fully inform their child about their DSD. There is no set formula for this disclosure because it will be individualized. It is an educational process for the child that includes the telling of information that is age appropriate and often repeated so that the child understands. In this regard, it is worth noting that studies in other chronic medical disorders and of adoptees indicate that disclosure of information relevant to them is associated with enhanced psychosocial adaptation.  By late childhood and adolescence your child will begin to participate in his/her own care. Ideally, your child will take an active role in the timing of hormone replacement and surgery, if any more is necessary 
    As the child develops, the mental health worker can periodically assess gender development and serve as a confidant for the child. Your child may have issues about gender identity, gender role, sexual orientation, sexuality, forming intimate relationships, and when and what to tell a partner about the condition. A mental health professional will be able to help your child talk about and deal with these issues.
    Remember that the main goal of treatment is for a person with a DSD to have a positive and healthy adaptation to their condition. Informed parents who have accepted and adjusted to their child’s condition will contribute to their child’s positive adaptation.  The mental health specialist is part of the team to aid parents and child in reaching this goal. 

QUESTION: What should we do if medical professionals want to examine our child too often or take medical photographs?
ANSWER: Former patients have described the experiences of repeated examinations and medical photographing as deeply shaming. Although photographing may have its place, it should be undertaken when the patient is under anesthesia and only with your or your child’s consent.

OTHER CONCERNS

QUESTION:  Are there any additional health issues that my child with a DSD may have?
ANSWER:  The Consensus Statement mentions possible malformations, cognitive difficulties, developmental delays, decreased libido, and concerns about the appearance of their body. However, these concerns vary by condition and even within conditions; that means that not everyone with the same condition will have the same difficulties. Some individuals may have no such difficulties at all. Every person with a DSD is a unique person. The best advice is to have the individual undergo a thorough medical examination which looks for the presence of these as well any other possible problems.

FUTURE STUDIES

QUESTION: What does the Consensus Statement say about future research?
ANSWER: The Consensus Statement states that further research is needed to obtain more information that can improve the care of families and individuals diagnosed with a DSD. The Consensus Statement clearly identified as a major shortfall the lack of long-term outcome data for people with a DSD. An international collaborative effort is needed to establish precise DSD diagnoses if we are to improve our care for patients and families. Education for professionals caring for individuals with a DSD and their families is encouraged and such educational programs need to be created.

SUPPORT GROUPS

QUESTION: Why are support groups important?
ANSWER: The Consensus Statement indicates that there is much value in peer and parent support for many chronic conditions. Those who are affected by DSDs and their parents have found value in the following:

 (1)  Lee PA, Houk CP, Ahmed SF, Hughes IA, in collaboration with the participants in the International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Consensus statement on management of intersex disorders. Pediatrics 2006;118(2):e488-e500.
 (2)  Hughes IA, Houk C, Ahmed SF, Lee PA, LWPES/ESPE Consensus Group. Consensus statement on management of intersex disorders. Archives of Disease in Childhood 2006;91(7):554-63.

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