Birth Defects Genital Urinary Tract Ambiguous Genitalia

The appearance of ambiguous genitalia in newborns may be due to abnormal hormone levels during pregnancy. Ambiguous genitalia is a term used to describe genitals that look neither male nor female.

In the past, many terms have described the condition, including “intersex” and “hermaphrodite” genitalia. According to the American Academy of Pediatrics, the current preferred terminology is “disorders of sex development.”

Fetal Gender Differentiation

A fetus’ genetic sex is determined at conception. After conception, hormones influence development of the internal reproductive organs and external genitalia. These hormones work by inhibiting the development of one set of gender-specific structures and promoting the development of another.

A fetus always begins with female-like characteristics. Some develop into males with exposure to male hormones (androgens) in the womb. Without androgen exposure, the fetus develops female genitals and reproductive organs. Exposure to specific hormone levels plays an important role in gender differentiation and in the development of distinctly male or female genitalia.

Conditions Resulting in Ambiguous Genitals

Hormones can affect development and cause ambiguous genitalia at any stage of fetal sexual differentiation. Most of these conditions are caused by abnormalities in hormone exposure or hormone processing.

For example, genetic females exposed to abnormally high androgen levels may develop masculinized genitalia, whereas genetic males exposed to inadequate levels of male hormones can develop less masculinized genitalia. In each case, the appearance of the genitals is somewhere between typical male and typical female genitalia.

Some specific conditions may result in development of ambiguous genitals:

  • Androgen insensitivity syndrome (AIS): Individuals with this condition have the outward appearance of females, but are genetically male. They have no internal female organs (uterus and ovaries), and insensitivity to male hormones does not allow for the development of external male sexual organs.
  • Congenital adrenal hyperplasia: Exposure to elevated levels of androgens (male hormones) in the womb may lead to ambiguous genitals in girls.

These conditions can affect development during puberty, another time during which the body must respond to changing hormone levels in a gender-specific manner.

Diagnosis and Treatment Options for Ambiguous Genitalia

A diagnosis of ambiguous genitals most often comes upon visual inspection of the newborn at birth. However, in some cases, conditions can go undiagnosed until puberty, when typical changes (including menstruation) do not occur. This may happen in cases of complete AIS, which results in genitals that appear externally female.

Treatment for ambiguous genitals is complex. Some families opt for surgery, while others choose to forego any action. Surgery may be necessary in cases where structural malformations interfere with necessary functions, including urinary function. The medical community now recognizes a myriad of treatment options, based on factors including outward appearance and potential for fertility.

Psychosocial Factors

Parents, doctors, and individuals affected by these conditions have very strong, and sometimes conflicting, opinions about the right course of action for affected children.

The psychosocial effects of surgical changes to assign a specific gender cannot be downplayed. Gender identification, gender roles and sexual preferences all factor into the decision. Therefore, parents should seek advice from doctors, surgeons and psychologists to address all factors that have an impact on the well-being of their child.

Resources

Genetics Home Reference. (n.d.). Androgen insensitivity syndrome. Retrieved April 20, 2010, from: http://ghr.nlm.nih.gov/condition=androgeninsensitivitysyndrome.

Indiana University. (n.d.). AIS facts.Retrieved April 20, 2010, from: http://www.indiana.edu/~ais/html/ais_facts.html.

Migeon, C. J., Wisniewski, A. B.,