Disorders of Sex Differentiation

Overview

What are disorders of sex differentiation (DSD)?

Disorders of sexual differentiation are rare congenital conditions in which a baby is born with either both male and female reproductive organs, atypical sex chromosomes or atypical appearances to their genitals. In such cases, it is not always possible to tell right away (differentiate) whether the baby is a boy or a girl. In the past, disorders of sex differentiation were given names such as intersex or hermaphroditism.

If your child has a disorder of sex differentiation (DSD), the sex chromosomes may still be female (XX) or male (XY). At the same time, your child’s reproductive organs and genitals may be those of the opposite sex. That leaves the sex assignment unclear or a mixture of both male and female.

What are the types of disorders of sex differentiation (DSD)?

There are different types of DSD and each type has a different cause. The most common DSD types in children include:

  • Female with ambiguous or male genitals (46, XX DSD): A child with this type of DSD has the female chromosomes (XX) with normal ovaries and womb. Genitals may be male or ambiguous (not having a clear sex). The child may have an enlarged clitoris (a female sex organ) that looks like a penis. The lower section of the vagina may be closed. The most common cause of this DSD is a condition called congenital adrenal hyperplasia (CAH). A child with CAH does not have a specific enzyme that the body needs to make the hormones cortisol and aldosterone. Without these two hormones, the body produces more androgens (male sex hormones). If the affected child is female, the high androgen levels before birth cause the genitals to become more male in appearance. This condition can cause serious health issues later on, such as life-threatening kidney problems that need to be treated as soon as possible.
  • Female with male chromosomes (46, XY DSD): Some female children have male chromosomes (XY) but their external genitals may appear entirely female or unclear. In addition, the womb may or may not be present. The testicles may be absent or not properly formed. Several different causes are behind this condition. Androgen insensitivity syndrome (AIS) is one possible cause. With AIS, the body either ignores androgens or is not sensitive to them. For this reason, the child appears to be female. The testes usually remain inside the body and the womb does not develop.
  • Mixed genitals and sex organs (46, XX Ovotesticular): This is a very rare type of DSD where the child has tissue from both ovaries and testicles. The genitals may appear female, male, or a mix of both. Children with this type of DSD have female chromosomes. Although the cause of this condition is not known, some cases have been linked to genetic material normally found on the Y chromosome that is misplaced on the X chromosome.
  • Sex chromosome DSD: Some children have neither male nor female chromosomes. Instead, they may have only one X chromosome (XO), or they may have an extra chromosome (XXY). Their sex organs are, however, normally formed as either male or female. Those children may not go through normal sexual development at puberty. For example, a child with female sex organs may not start having periods, and may have small breasts.
  • Rokitansky syndrome: Some females are born without a womb, cervix, and upper vagina. Some may have underdeveloped organs. In this condition, the ovaries and external genitalia (vulva) are still present. They will still develop breasts and pubic hair as they get older. This condition is called Rokitansky syndrome (also known as Mayer-Rokitansky-Küster-Hauser or MRKH syndrome). The cause of Rokitansky syndrome is not clear. Girls and women with this condition have normal XX chromosomes. The first sign of Rokitansky syndrome is that a girl does not start having periods. Sex may also be difficult because the vagina is shorter than normal. Women with Rokitansky syndrome who have no womb cannot become pregnant. It is sometimes possible to take eggs from the individual to make a surrogate pregnant.

Symptoms and Causes

What are the causes of a disorder of sex differentiation (DSD)?

The tissue that eventually turns into testes or ovaries is present early in fetal development. Sexual organ development is influenced by genetics (chromosomes), hormones, and environmental factors. The cause of a DSD is not always known.

What are the symptoms of a disorder of sex differentiation (DSD)?

The symptoms of a DSD depend on the type of condition. In general, genitals that are not typical indicate a DSD. However, a DSD can sometimes be found only internally.

Diagnosis and Tests

How are disorders of sex differentiation (DSD) diagnosed?

Some DSDs are discovered in the infant at birth because of noticeable signs, such as undescended testicles or an abnormal or unclear genital. When that happens, the doctor may order a few tests to confirm the diagnosis. The tests may also help the doctor to determine if there are any other medical problems that may need to be treated immediately.

Tests may include the following:

  • Medical history of the family and of the mother’s pregnancy
  • Physical examination of the child’s body, including genitals and buttocks
  • X- and Y-probe test to determine sex based on chromosomes
  • Ultrasound imaging
  • Hormone level tests and hormone stimulation test
  • Urine test
  • Exploratory surgery (done very rarely)

In other cases, DSDs may not be noticed early because there may be no obvious signs. Parents may start to have concerns only when they do not notice any puberty changes in an older child. Some children may mature into adulthood with a DSD that neither doctors nor parents noticed.

Management and Treatment

What is the treatment plan for a disorder of sex differentiation (DSD)?

Treatment of a child with DSD should start by assuring the family that their child will likely become a well-adjusted, functional member of society. It is important to diagnose the type of DSD correctly as soon as possible to advise the parents appropriately. In the meantime, the healthcare team may ask you to postpone registering your child’s birth for some days.

When the test results are back, specialists will explain the results to you, and discuss whether you should raise your child as a boy or a girl. Most children do not need emergency treatment for a DSD.

DSD is best managed by team of healthcare providers. The specialists may include a pediatric urologist, a psychiatrist, and a pediatric endocrinologist, in addition to the primary care doctor. The team will help the parents, and possibly the child, to decide among treatments that may include medications, hormones, and surgery. The decisions may include postponing treatment until a child is able to provide his or her input.

Outlook / Prognosis

Will a disorder of sex differentiation (DSD) affect my adult child?

Most adults with a DSD decide to stay with the sex that they were assigned as babies. The person with a DSD might decide to change genders if the original assignment does not seem to be correct. It is possible that an adult with DSD will be infertile. He or she might need hormone therapy and psychological support.

Living With

What happens if a disorder of sex differentiation (DSD) is not found at birth?

Sometimes a DSD may not be noticed at birth. You should talk to your healthcare provider if your child does not experience the expected changes at puberty, such as hair growth, or menstruation.

Your doctor should then refer your child to a specialist in pediatric endocrinology and/or an adolescent gynecologist. If your concerns are confirmed, a team of healthcare specialists will work closely with you and your child.

Most likely, your child may need hormone therapy and psychological support. At that point, your child may decide whether he or she wants to change physical appearance via surgery. Getting the right care and support will help the child understand DSD and live well.

What questions should I ask the doctor?

It may not be easy to remember all your questions when the doctor discusses the treatment plan for your child. It may be helpful to write down all the questions to make sure not to leave out important concerns. Those questions may include the following:

  • What kind of experience do you have treating children with DSDs?
  • Should I talk to my child about this condition?
  • Does my child’s condition require a long-term treatment plan?
  • Is there a follow-up care plan?
  • Can you tell me where to find more information on my child’s condition?
  • Will be my child live a normal life?
  • Will the treatment affect how my child feels in the long run?

Resources

How can I get more help?

If you are the parent of a child who has a DSD, or you yourself have a DSD, it may be a good idea to contact or join support groups. Ask your healthcare team to provide you with a list of national and local support groups.

Last reviewed by a Cleveland Clinic medical professional on 09/23/2016.

References

  • Kim KS, Kim J. Disorders of sex development. Korean J Urol. 2012;53(1):1-8. Retrieved from US National Library of Medicine National Institutes of Health. Accessed 7/29/2016.Disorders of Sex Development (http://bit.ly/2ai40ev)
  • NHS. Accessed 7/29/2016.Disorders of sex development (http://www.nhs.uk/conditions/disorders-sex-development/Pages/Introduction.aspx)
  • Accessed 7/29/2016.Clinical Guidelines for the Management of Disorders of Sex Development (http://www.dsdguidelines.org/files/clinical.pdf)
  • Accessed 7/29/2016.Accord Alliance: Better care, better outcomes, better lives (http://www.accordalliance.org)

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