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Disorders of Sexual Differentiation (Ambiguous Genitalia)

What Is This?

When some children are born, the question of whether they are a boy or a girl is impossible to answer by looking at their genitalia. In the past, you may have heard the term “intersex” but the uncommon condition is now known as a “disorder of sexual differentiation” or DSD. This term describes a wide range of conditions in which development of the sex organs does not occur as it normally would and involves mild to significant variations in reproductive organ development, sex development and gender identity.

DSD is one of the more challenging diagnostic problems facing pediatric urologists. These children may be boys whose penis, scrotum and testes have not developed normally, and they look a little like girls. The opposite can occur in girls who have developed penis-and-scrotum-like structures and look somewhat like boys

At Wake Forest Baptist Health, we understand that a diagnosis of DSD can cause much anxiety and uncertainty about your child’s sexuality and health. We have a team of experts who can explain your child’s condition, provide answers to your questions and discuss the treatment options.

How Does It Occur?

Sex development starts at the time of conception and a fetus’ gender is already determined based on the 23rd chromosome it inherited from the parents. All fetuses begin development in the uterus looking like females. Females have two X chromosomes and males have an X and a Y chromosome. Even though the gender is set, the fetal tissue that will eventually become the female ovaries or male testes (gonads) has not yet begun to take its form.

If the fetus is male, the female-like structures will undergo changes that transform them into a penis and scrotum. If this process is not completed in the male fetus, he may have genitalia with both male-and-female-appearing features.

In girls, this transformation is not supposed to occur. However, if partial or complete transformation does occur in girls, they will take on partial or complete appearance of male genitalia with a penis and scrotum. In some instances, transformation will be so abnormal that the infant will look like a normal infant of the opposite sex.

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 and the cause 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.

How Is It Treated?

It is important to diagnose the type of DSD correctly as soon as possible to advise the parents appropriately.

Treatment is based on several factors. The first is the true genetic sex of the child (XX or XY). The second is the developmental changes that can be expected as the child grows. The third is the potential for the child to be fertile and have children. Finally, the ability to successfully reconstruct the genitalia toward the appropriate appearance is also an important factor.

DSD is best managed by a multidisciplinary healthcare team of specialists that 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. 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 DSD.

With proper medical management, most children with ambiguous genitalia will lead healthy and normal lives. Sex assignment and corrective surgery are necessary in allowing your child to lead a fairly normal life as a boy or a girl. As a child grows up and enters puberty, there is a slight chance that they will identify with a sex other than the one they were assigned. In this case, a gender transition may be necessary. It’s recommended that physicians wait until the child is around 16 years old before beginning the hormone therapy process involved in a transition.

 

 

 

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Last Updated: 06-14-2017
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