Genitalia, Ambiguous Health Article

Demographics

Ambiguous genitalia is a very rare condition. Researchers estimate that the most common cause, congenital adrenal hyperplasia, may occur in one of every 15,000 live births worldwide. Other conditions that affect the formation of external genitalia are even rarer.

Signs and symptoms

Primarily, ambiguous genitalia is a physical condition characterized by an abnormal appearance of the external genitals; however, the internal sex organs are typically malformed as well. There may be partially formed testes, ovaries, or both, or a complete absence of internal sex organs. Typically, individuals with ambiguous genitalia are infertile.

In some cases of pseudohermphroditism, the genitalia may appear to be slightly abnormal female at birth, but at puberty, the genitals may become more masculine as testosterone levels rise. What appeared to be an enlarged clitoris may develop into a penis of up to 2.7 in (7 cm) in length.

The long-term health risks of this condition include an increased risk of tumors. Abnormal testicular tissue is vulnerable to tumor formation. As many as 40% of genetic males with ambiguous genitalia develop tumors within this tissue by the time they reach the age of 50. For this reason, regular screening is important.

Diagnosis

Ambiguous genitalia is usually diagnosed initially during a newborn's physical exam or during subsequent well-baby check-ups. Once it is suspected that the infant has abnormal genitalia, diagnostic tests may be performed to identify the child's genetic gender; the presence of a chromosomal abnormality; the presence, absence, and type of internal sex organs; and the potential for production of sex hormones.

Diagnostic test that may be performed include:

• Chromosomal analysis to determine which sex chromosomes are present and if there are any abnormalities.
• Abdominal ultrasound to assess internal sex organs, if present, and to view the adrenal gland that is enlarged in females with congenital adrenal hyperplasia.
• Tests to assess the levels of male and female hormones present and the child's ability to process them; to determine if the infant can process enzymes; and to screen for other metabolic conditions that may accompany ambiguous genitalia.

Treatment and management

Treatment of ambiguous genitalia will depend on the extent of the abnormalities present, the underlying cause, and associated conditions. Treatment options include hormone replacement therapy (HRT) and surgical correction.

In some cases, gender assignment may be necessary. This can be a difficult and emotional decision for parents. Complicating the situation is the fact that when surgery is required to reconstruct external genitalia, the genetic sex of the child may not be the primary determining factor. It is far more difficult for surgeons to create functional male genitalia than female. For many years, it was thought that, in children for whom gender assignment surgery was considered the best treatment, a gender assignment should be made in the first few days of life. It was believed that environment or the influence of being raised as a girl or boy was enough to ensure gender identity. Recent data about individuals who were "assigned" a gender different from their genetic gender contradict this theory. Some individuals, who were assigned a gender different from their genetic gender as infants and were raised as the reassigned gender, chose to assume the gender identity of their genetic gender as adults. Currently, many doctors believe that gender assignment involving surgical reconstruction of the external genitalia should be delayed until the individual has an established gender identity and can be involved in the decision.

Other factors that must be considered are issues of fertility, the ability of the internal sex organs to produce gender-appropriate sex hormones, the effects of sex hormone exposure on the fetus while in the womb, and the risk of additional health problems that may develop later in life either from HRT or internal sex organs.

Prognosis

If gender assignment is successful, the prognosis for children diagnosed with ambiguous genitalia is excellent. Depending on the underlying diagnosis and associated conditions, some additional medical management may be necessary. In children with congenital adrenal hyperplasia, steroid treatment is necessary for survival. Despite the complications from long-term steroid use, if the condition is properly diagnosed and treated, children with congenital adrenal hyperplasia can have healthy and normal lives.

PERIODICALS

Committee on Genetics. "Evaluation of the Newborn with Developmental Anomalies of the External Genitalia." Pediatrics 106, no 1 (July 2000): 138–142.

Phornphutkul, Chanika. "Experience and Reason: Gender Self-Reassignment in an XY Adolescent Female Born with Ambiguous Genitalia." Pediatrics 106, no 1 (July 2000): 135–137.

ORGANIZATIONS

Ambiguous Genitalia Support Network. P. O. Box 313, Clements, CA 95227-0313.

Intersex Society of North America (ISNA). P. O. Box 31791, San Francisco, CA 94131. (April 10, 2005.) <http://www.isna.org>.

National Adrenal Diseases Foundation. 505 Northern Blvd., Great Neck, NY 11021. (April 10, 2005.) <http://www.nlm.nih.gov/medlineplus/ency/article/003269.htm>.