Some babies are born with genitals that aren't clearly male or female. This type of ambiguous development is referred to as differences in sex development (DSD).
Ambiguous genitalia sometimes results in confusion for parents. Occurring in roughly one out of every 100 births, differences in sex development is more common than most people may realize. Oftentimes, there are other ways to determine what the sex of a child is when genitalia are ambiguous.
While children with DSD are normally otherwise healthy, it is possible that a newborn will have other congenital problems, including ones involving the urinary system or CAH. A pediatric urologist can determine if this is the case.
What Causes Differences in Sex Development?
Children born with DSD may develop this issue because of an abnormal mixture of sex chromosomes. A baby with DSD sometimes has chromosomes with both ovarian and testicular tissue. There may also be male and female internal organs present. It’s also possible for high levels of male hormones to enter the placenta via the mother, as may happen if a woman is given progesterone to prevent a miscarriage.
DSD can also be the result of androgen insensitivity syndrome, which means that a child’s body does not respond to androgens (testosterone). If there is some type of partial response to androgens, it’s referred to as partial androgen insensitivity. In some situations, DSD is caused by a problem with the adrenal gland that results in excess production of male hormones.
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How is DSD Diagnosed?
Diagnosis typically occurs shortly after birth when a newborn is examined. A more thorough physical examination is usually done if a sex organ cannot be clearly defined as being either male or female. A pediatric urologist may also ask whether or not genital abnormalities have affected other family members.
If a problem with the adrenal glands is suspected, a congenital adrenal hyperplasia (CAH) test may be performed. Hormonal studies are sometimes done so that imbalances can be identified and levels of existing sex-related hormones can be measured.
If the sex organs are internal, an ultrasound may be performed to determine if distinguishing characteristics can be identified on them. Additionally, genetic and chromosomal studies are sometimes ordered by a pediatric urologist to pinpoint the specific reason for ambiguous genitalia.
How is the Sex of a Child with DSD Determined?
Sex of a child may be determined based on the results of several tests. A pelvic ultrasound, for example, may be performed to look for the presence of female reproductive organs. Chromosomal analysis is usually required to determine gender and sex of the child. Testing can also determine if there is potential for the growth of a penis if the child is determined to be male gender. An analysis of the actions of male and/or female hormones on the fetal brain may also be done. Additionally, preferences of the parents are considered.
Treatment for differences of sex development will depend on the cause of these findings in a child. Typically, treatment involves surgery to match the external organs to be appropriate for a child’s sex and make other internal organs match the gender of the child. This may also include surgical removal of organs for the opposite sex, especially if they are at risk for cancer or tumor development. Hormone replacement therapy (HRT) is sometimes part of the treatment process.
A multidisciplinary approach is used in these complex cases and teams include a pediatric urologist, endocrinologist, geneticist, psychologist and social workers. This method ensures the family and patient receive indivualized care for the patient.