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.