Medical Health Encyclopedia

Ambiguous genitalia

In a genetic male (one X and one Y chromosome), ambiguous genitalia typically include the following features:

• A small penis (less than 2-3 centimeters or 0.8-1.2 inches) that resemble an enlarged clitoris (the clitoris of a newborn female is normally somewhat enlarged at birth).
• The urethral opening may be anywhere along, above, or below the penis; it can be placed as low as on the peritoneum, further making the infant appear to be female.
• There may be a small scrotum with any degree of separation, resembling labia.
• Undescended testicles commonly accompany ambiguous genitalia.

Ambiguous genitalia is usually not life threatening (see Causes section for exceptions ), but can create social  problems for the child and the family. For this reason, a team of experienced specialists, including neonatologists, geneticists, endocrinologists, and psychiatrists or social workers will be involved.

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Common Causes:

• Pseudohermaphroditism. The genitalia are of one sex, but some physical characteristics of the other sex are present.
• True hermaphrodism. A very rare condition in which both ovarian and testicular tissue is present. The child may have parts of both male and female genitalia.
• Mixed gonadal dysgenesis (MGD). An intersex condition in which there appears some male structures (gonad, testis), as well as a uterus, vagina, and fallopian tubes.
• Congenital adrenal hyperplasia. This condition has several forms, but the most common form causes the genetic female to appear male. Many states test for this potentially life-threatening condition during newborn screening exams.
• Chromosomal abnormalities, includingKlinefelter's syndrome (XXY) andTurner's syndrome (XO).
• Maternal ingestion of certain medications (particularly androgenic steroids) may make a genetic female look more male
• Lack of production of specific hormones can cause the embryo to develop with a female body type regardless of genetic sex
• Lack of testosterone cellular receptors. So even if the body makes the hormones needed to develop into a physical male, the body is unable to respond to those hormones, and therefore, a female body-type is the result even if the genetic sex is male.