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Ambiguous Genitalia


Disease: Ambiguous Genitalia Ambiguous Genitalia
Category: Genetic Diseases
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Disease Definition:

Ambiguous genitalia is a rare condition in which a newborn's external genitals don't appear to be clearly male or female. In this condition the baby may have general characteristics of both sexes or its genitals may not be well formed.

Because of the uncertainty involved in it and the social stress attached to not knowing a child's sex immediately, this disorder can be upsetting to the family.

Even though this situation can be quite stressful, surgery, as well as medical advances can help with the process of deciding a sex to the child.

In case a baby has this condition, it is best to wait and think carefully before making this important decision.

Work Group:

Prepared by: Scientific Section

Symptoms, Causes


The idea of a newborn's looking normal may not be that clear because its genitalia are quite small. The first to recognize the sings of ambiguous genitalia will be the medical team soon after the baby is born. These signs vary from the outwardly invisible to the more obviously apparent.

For genetic males, these characteristics may be present:


  • An abnormally small penis with the urethral opening nearer to the scrotum, indicating that the penis stopped growing early in its development.
  • Hypospadias: The condition in which the urethra (the narrow tube that carries urine and semen) doesn't fully extend to the tip of the penis.
  • The absence of both testicles in what seems to be the scrotum.
  • In the most severe cases, no recognizable male genitalia.

For genetic females, these characteristics may be present:


  • A concealment of the vagina because the midline groove has closed over.
  • An enlargement of the clitoris or what seems to be a small penis.


Based on the 23rd pair of chromosomes it inherits, the child’s genetic sex is established at conception. The father's sperm contains one of the two chromosomes X or Y and the mother's egg contains an X chromosome, so when a baby inherits the Y chromosome from its father it is a genetic male (one X and one Y chromosome), but when a baby inherits the X chromosome from its father, then it's a genetic female (a pair of X chromosomes).

Female and male sex organs develop from the same tissue in the fetus; the same fetal tissue that forms a penis in a male also forms a clitoris in a female, and because of that, males and females are indistinguishable in early fetal development.

The development of the sex organs is controlled by the presence or absence of male hormones. Usually, male genitalia are developed because of the presence of male hormones in the fetal testicles, whereas in a female fetus, female genitalia are developed because of the absence of male hormones.

Ambiguous genitalia in males results from the absence of male hormone in a genetic male fetus, while in females, it results from the presence of male hormone during development. Many of the cases of ambiguous genitalia seem to happen by chance and the exact cause of it is often unknown even though the absence or presence of male hormones is the main factor controlling genital development.

Some of the possible causes of ambiguous genitalia in a genetic female are:


  • Tumors in the mother or the fetus that produce male hormones.
  • Ingestion of substances that contain male hormone activity by the mother, such as progesterone, which is used to stop bleeding and is taken in the early stages of pregnancy.
  • CAH (congenital adrenal hyperplasia): This is the most common cause of ambiguous genitalia in newborns. Specific forms of this genetic condition cause the adrenal glands to make excess androgens, which are male hormones.

Some of the possible causes of ambiguous genitalia in a genetic male are:


  • CAH (congenital adrenal hyperplasia): production of the male hormones could be impaired because of some specific forms of this genetic condition.
  • Some genetic abnormalities or unknown factors that cause the testicle development to be impaired.
  • Androgen insensitivity syndrome: This is a condition in which developing genital tissues are unable to respond to normal male hormone levels.
  • Ingestion of substances that contain female hormone activity by the mother, such as nutritional supplements that contain plant estrogens, anti-androgens or estrogens. This occurs when a woman gets pregnant despite taking birth control pills, and not knowing that she's pregnant, continues taking the pills for several weeks. This cause is highly improbable.
  • Leydig cell aplasia, which is a condition that impairs testosterone production.
  • 5alpha-reductase deficiency, which is the impairment of normal male hormone production because of an enzyme defect.



In some children who are born with ambiguous genitalia the severity of the condition, complicated hormone levels and trouble adjusting to their assigned sex could make it either difficult or impossible to conceive a child later in life. However, in other children born with this disorder it could be quite possible to conceive and be fertile later in life.


The timing of the treatment depends on a child's specific situation. This condition could be managed by a medical team that consists of a number of specialties, such as neonatology, urology, pediatric endocrinology, medical genetics, plastic surgery and psychology. This team will explain the options available for the child and probably suggest a course of action.

Treatment options may include:

Reconstructive Surgery:
To make the boy's or girl's genitalia look natural, the child may undergo reconstructive surgery, which is usually cosmetic. In some cases, the surgeon may try to restore sexual function, and the results are usually gratifying. However, there is a risk of disappointing cosmetic result or sexual dysfunction, such as an inability to achieve orgasm, and the child may need repeated surgeries later in life.
In some types of ambiguous genitalia surgeries give the best results when carried out soon after birth, while in other cases it is best to wait until later in the child's development and in some cases until the child has reached sexual maturity. However, in severe cases of this disorder, the surgery should be delayed until the child can play a role in participating in the sex assignment decision to get the best medical and psychological results.
Even though the surgery for boys is complicated, it's usually successful. When a genetic male is born with a short or incomplete penis, surgery gives him the opportunity to have a more normal penis. Mostly, it will have a normal look and erectile functionality, and no further surgery will be required for this reconstructed organ. The remaining female organs, such as a vagina or uterus, that are hidden under the skin rarely cause physical problems, but because a boy's knowledge of these structures may be emotionally difficult, they are often surgically removed later in life.
When it comes to girls, despite any ambiguous appearance, sexual function of the organs is usually not compromised. Surgery options range from uncovering a vagina hidden under the skin to removing excess masculine tissue around the clitoris, depending on the severity of the condition. These surgeries are carried out very carefully to avoid damaging nerve endings and blood flow, in order to ensure normal sexual function in the future.

Hormone Therapy:
In some cases, hormone therapy alone may be enough to correct the initial hormonal imbalance, depending on the severity of the condition. If a genetic female has a slightly enlarged clitoris due to a minor or moderate case of congenital adrenal hyperplasia, proper levels of hormones may shrink the tissue close to its normal size.


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