Ambiguous Genitalia

In Ambiguous genitalia, the external sexual organ does not represent the typical male or female gender. Previously it was also known as intersex or pseudo-hermaphroditism. In this abnormal genetic, sexual organs, and external appearance in respect to the gender of the infant seen. It is a congenital condition, i.e., it is present since birth. It is a social and medical emergency condition. It is also known as DSD (a disorder of sexual differentiation). Suspicion of ambiguous genitalia should be kept in mind when the following conditions are present −

  • Micropenis: length of the penis is less than 2.5 cm in a full-term newborn infant.

  • Labioscrotal folds asymmetry is present.

  • Cryptorchidism i.e., testis not present at its usual position is seen

  • Hypospadias i.e., the downward position of the penis is seen.

  • Increase in the size of the clitoris or inguinal hernia is seen.

  • Other external genital changes are also seen.

It can be classified under the following four headings

  • 46, XX virilized female

  • 46, XY under virilized male

  • Gonadal differentiation and chromosomal disorders

  • Syndromes associated with ambiguous genitalia

Ambiguous Genitalia: Causes

The probable causes of Ambiguous genitalia may include −

  • One of the most important causes of Ambiguous genitalia is congenital adrenal hyperplasia (CAH). In this disease, normal gonadal hormones that are required for sexual development are not produced at an appropriate biological level.

  • Chromosomal abnormalities such as Turner syndrome, Klinefelter syndrome, and many other genetic abnormalities can also lead to Ambiguous genitalia.

  • Exposure of female babies to male hormones due to certain drugs in pregnant mothers can lead to Ambiguous genitalia.

  • Tumors of a certain variety that produces male hormones can lead to Ambiguous genitalia.

  • Abnormal testicle development is one of the common causes of Ambiguous genitalia in male babies.

  • Androgen insensitivity syndrome.

  • Disorder in male hormones production.

  • 5-alpha-reductase enzyme deficiency causes a reduction in male hormone production.

Ambiguous Genitalia: Symptoms

Symptoms are separately discussed in male and female babies.

Genetically female babies have the following symptoms −

  • Enlarged external genital organ i.e., clitoris; which appears like a penis.

  • Obstructed or closed labia due to the presence of folds of the membrane which looks like a scrotum.

  • Mass derived from the testis will be fused with labia.

  • Inguinal hernia.

  • Increased pigmentation of the labial fold.

Genetically male babies have the following symptoms

  • Hypospadias; the urine tube or urethra does not open at the tip of the penis.

  • Penis size will be abnormal or small and the opening will be near the scrotum.

  • Testis will be present in the abdomen instead of the scrotum is known as an Undescended testis and it appears like labia.

Ambiguous Genitalia: Risk Factors

The major risk factors for Ambiguous genitalia include −

  • Familial history or history of a similar condition in siblings is a major risk factor.

  • Inherited genetic abnormality.

  • Death for unknown reasons in a previous pregnancy.

  • Genital disorders or abnormal genital appearances.

  • Abnormal puberty changes.

  • Congenital adrenal hyperplasia.

Ambiguous Genitalia: Diagnosis

To diagnose Ambiguous genitalia, some of the prominent methods are −

  • Proper history is important, such as ingestion of any maternal drugs during pregnancy, and family history of similar complaints.

  • Past history of any death in pregnancy or infancy.

  • External genital examination will give a clue about the diagnosis with the appearance of the external sexual organs as described above.

Investigations include the following

  • Serum electrolytes, Blood sugar, Hormonal study, Karyotyping, Ultrasonography, Genitography, Sinogram, CT, MRI,

  • Exploratory laparotomy/Laparoscopy.

  • HCG stimulation test.

  • GnRH stimulation test.

Ambiguous Genitalia: Treatment

A team of the following experts is required −

  • Pediatrician

  • Medical geneticist

  • Pediatric urologist

  • Pediatric endocrinologist

  • Gynecologist

  • Pediatric psychologist

  • Cytogeneticist

  • Social worker

  • Radiologist

The following measures are to be taken −

  • Should co-relate the baby’s sex to the chromosomal and gonadal sex

  • Pubertal growth should be anticipated

  • Surgeries to be planned considering future function.

  • Fertility should be preserved

  • Reconstructive surgeries are available and should be considered as and when required.

  • Hormone therapy.

  • Psychological support from parents.

Reconstructive surgery − The goal of the surgery is to make the genitalia looks as natural as possible. Restoration of the sexual function. Repeated surgery may be required.

Hormone therapy − Helps to restore the initial hormonal imbalance till the gonads have the ability to produce an appropriate quantity of sex hormones. Testosterone supplements may be necessary for puberty or in adult life.

Ambiguous Genitalia: Prevention

As such, specific measures are not available to prevent this condition, but prevention of the above-mentioned risk factors should be done to reduce the risk of its development. Couples with a previous history of such conditions or any death due to unknown causes should undergo genetic and hormonal counseling before planning for the next pregnancy.

Any abnormal sexual development should lead to the suspicion of this condition and proper professional help should be taken. Proper awareness about the condition and risk factors should be undertaken by the government and social work groups. It can also lead to infertility and increased risk of certain cancers therefore those situations should also be kept in mind.


Patients diagnosed with Ambiguous genitalia should be provided adequate mental and social help and support. A team of experts should work in coordination to help the patient in the most efficient way. The gender of the new-born should be decided as soon as possible depending upon the external appearance and genetic and chromosomal study.

Many self-help groups are also available, both online and offline, therefore, help can be taken from those groups. In addition, prevention and proper awareness about the condition should be provided to the vulnerable population. Premarital counselling or before planning for pregnancy should also be done.

Dr. Durgesh Kumar Sinha
Dr. Durgesh Kumar Sinha


Updated on: 06-Feb-2023


Kickstart Your Career

Get certified by completing the course

Get Started