Ambiguous genitalia refers to a condition questioning a child’s sex according to American Pediatric Surgical Association (APSA). Mayo Clinic wrote with ambiguous genitalia, the genitals may not be well-formed or babies may have external sexual organs that don’t match the internal sexual organs.
APSA stated humans normally have 46 chromosomes and two sex chromosomes. Boys have one X and one Y chromosome and girls have two X chromosomes and no Y chromosome.
Male and female sexual organs develop from the same fetal tissue. Children’s Hospital Boston said that fetal tissue becomes either a penis or clitoris. The presence of male hormones causes male organs to develop and their absence causes female organs to develop. Disrupt this process and ambiguous genitalia can develop.
The National Institutes of Health (NIH) said ambiguous genitalia in genetic females (babies with two X chromosomes) usually have the following characteristics:
- An enlarged clitoris that looks like a small penis
- A urethral opening along, above, or below the surface of the clitoris
- A closed labia or one that may look like a scrotum
- A lump in the labia that looks like a scrotum
- A hidden vagina
There are several causes of ambiguous genitalia in genetic females, including congenital adrenal hyperplasia. NIH said certain forms of this genetic condition cause the adrenal glands to make excess male hormones. Prenatal exposure to male hormones like progesterone and anabolic steroids is another, wrote Mayo Clinic.
Ambiguous genitalia in genetic males (babies with one X and one Y chromosome) may have the following characteristics wrote Mayo Clinic:
- The urethra doesn't fully extend to the penile tip
- An abnormally small penis with the urethral opening closer to the scrotum
- The absence of one or both testicles in what appears to be the scrotum
Causes of ambiguous genitalia in genetic males include congenital adrenal hyperplasia or abnormalities with testes or testosterone. Children’s Hospital Boston added androgen insensitivity syndrome.
Here, developing genital tissue can’t respond to normal male hormone levels. Or there's 5alpha-reductase deficiency, an enzyme deficiency, that impairs normal male hormone production. Another could be prenatal exposure to female hormones like estrogen.
Children’s Hospital of Wisconsin said treatment includes corrective surgery to remove or create reproductive organs appropriate for the child’s gender. Treatment may also include hormone replacement therapy (HRT).
Corrective surgery can preserve normal sexual function and create more natural-looking genitals, wrote the Mayo Clinic. For example, with a hidden vagina, surgery can help with sexual function later, or surgery to reconstruct an incomplete penis may improve appearance and make erections possible.
Children’s Hospital of Wisconsin warned that some born with ambiguous genitalia may have normal reproductive organs allowing them to live normal, fertile lives. Others may experience difficulty conceiving a child or infertility.
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"AUAF - Urology A-Z - Ambiguous Genitalia." AUAF - Home. N.p., n.d. Web. 21 Mar. 2012.