Facts About Ambiguous Genitalia
Although we are listing the common non-medical term "Ambiguous Genitalia", the common medical terms to describe the different varations are: Disorders of Sex Development (DSD) and Intersex. In addition, Congenital Adrenal Hyperplasia is commonly grouped with DSD. Congenital Adrenal Hyperplasia is an inherited condition affecting adrenal function.
Ambiguous genitalia is a genetic defect that results in a child with genitals that are neither clearly female nor male. Abnormal chromosomes result in hormonal imbalances or an interruption in the development of the child’s sexual organs. This condition does not affect the health and development of the child in any areas other than the reproductive organs. Ambiguous Genitalia in Boys Boys that are born with ambiguous genitalia can be born with an abnormally small or concealed penis that resembles a clitoris. The testes may be concealed in the abdomen or split to resemble labia. In addition, the urethra can be located as low as the perineum or as high as well above the penis. In some cases, the penis itself may be split, making it difficult to differentiate between labia or a penis. Ambiguous Genitalia in Girls Ambiguous genitalia in girls can present as an overly developed clitoris that looks similar to a small penis. The labia may be fused, giving the appearance of testes and may even have a hard mass present that can be felt upon examination, further confusing the presence of testes. The urethra can be placed in an abnormal position as well. Very rarely is a child born with both a fully developed vagina and a penis. The Examination Process A child with ambiguous genitalia will require an ultrasound examination to determine what, if any, reproductive organs are present in the abdomen. Genetic testing can also be performed to determine if the child has an XX pair of 23rd chromosomes (female) or an XY pair (male). In addition to determining the true sex of the child, it will need to be determined if there are any hormonal imbalances that will need to be treated.
Ambiguous Genitalia Challenges
- The most obvious longstanding concern for children with ambiguous genitalia is fertility. Partially formed ovaries or testes may not be able to function fully, resulting in infertility of the child. This possibility will be explored by the chil?s pediatrician and treatment options may be available.
- Children born with ambiguous genitalia grow to be happy, healthy adults, and many children with this condition have been adopted.
Ambiguous Genitalia Treatment
- While opinions can differ, it is most often recommended that children be treated for ambiguous genitalia within a few days of birth. Some physicians prefer to wait until the child is old enough to make their wishes known, but most medical personnel agree that the parents should decide the best course of action as soon as medical tests are completed.
- Treatment can include surgery to remove tissue or reconstruct appropriate genitalia that are malformed or missing. Hormonal imbalances can be treated medically and further testing may be performed to check for serious co-existing conditions like salt losing disease. Ambiguous genitalia may have a devastating emotional impact on parents and on children who wait to have the condition corrected. Personal and family counseling should be sought immediately to help families cope appropriately.