Ambiguous Genitalia Causes, Symptoms, Diagnosis and Treatment

What Are Ambiguous Genitalia?

Ambiguous genitalia are a rare condition in which an infant’s external genitals cannot be clearly classified as either male or female.
In a baby with ambiguous genitalia, the genitals may not be well-formed or the baby may have characteristics of both sexes.
The external sex organs may not match the internal sex organs or genetic sex.

Ambiguous Genitalia Can Lead To Various Complications Which May Include:

Infertility. Whether people with ambiguous genitalia can have children depends on the specific diagnosis.
Increased risk of certain cancers. Some disorders of sex development are associated with an increased risk of certain types of cancer.

Causes Of Ambiguous Genitalia:

Ambiguous genitalia occur when something goes wrong during pregnancy to disturb the fetus’s developing sex organs.
A disruption of the steps that determine sex can result in a mismatch between the appearance of the external genitals and the internal sex organs or the genetic sex (XX or XY).

A lack or deficiency of male hormones in a genetic male fetus can cause ambiguous genitalia.
Exposure to male hormones during development results in ambiguous genitalia in a genetic female.
Mutations in certain genes can influence fetal sex development and cause ambiguous genitalia.
Chromosomal abnormalities, such as a missing sex chromosome or an extra one, also can cause ambiguous genitalia.

Causes Of Ambiguous Genitalia In A Genetic Female May Include:

Congenital adrenal hyperplasia.
Prenatal exposure to male hormones.

Drugs which contain or stimulate the production of male hormones in pregnant women.
Hormone imbalance in the mother

Tumors. Rarely, a tumor in the mother can produce male hormones.

Causes Of Ambiguous Genitalia In A Genetic Male May Include:

Impaired testicle development.
Androgen insensitivity syndrome.
Developing genital tissues don’t respond normally to male hormones made by the testes.
Abnormalities with testes or testosterone.
Structural problems with the testes
problems with production of the male hormone testosterone
Problems with cellular receptors that respond to testosterone.
5a-reductase deficiency.
Impair normal male hormone production.

Symptoms Of Ambiguous Genitalia:

Symptoms depend on the gender of the patient.

Babies who are genetically female may have:

An enlarged clitoris, which may resemble a small penis
Closed labia, or labia that include folds and resemble a scrotum
Lumps that feel like testes in the fused labia

Babies who are genetically male may have:

A condition in which the narrow tube that carries urine and semen (urethra) doesn’t fully extend to the tip of the penis (hypospadias)
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
Undescended testicles and an empty scrotum that has the appearance of a labia with or without a micropenis

Diagnosis Of Ambiguous Genitalia:

The following tests help in the diagnosis of ambiguous genitalia:

Blood tests to measure hormone levels
Blood tests to analyze chromosomes and determine the genetic sex (XX or XY) or tests for single gene disorders
Ultrasound of the pelvis and abdomen to check for undescended testes, uterus or vagina
X-ray studies using a contrast dye to help clarify anatomy

Treatment Of Ambiguous Genitalia:

The goal of treatment is long-term psychological and social well-being, as well as to enable sexual function and fertility to the greatest extent possible.

The following treatment options are available: