Ambiguous Genitalia: Types, Causes and Treatment

Ambiguous genitalia is a congenital (present from birth) defect in which the external genitalia - penis or vulva - of the child do not have the typical appearance of either a male or female. The genitalia usually show a combination of male and female characteristics. The possession of ambiguous genitalia is referred to as Intersexuality and people with ambiguous genitalia are referred to as Intersex. Intersexuality was referred to as hermaphroditism and intersex people were called hermaphrodites in the past but these terms are now considered politically incorrect.

Causes of Ambiguous Genitalia

During conception, the mother of a child contributes an X chromosome and the father contributes an X or Y chromosome. If the father contributes an X chromosome, then a genetically female fetus (XX) will develop and if he contributes a Y chromosome, a genetically male fetus (XY) will be formed. In the early stages of fetal life, both male and female fetuses are identical. At a certain stage – about 8 weeks for an XY fetus and 12 weeks for an XX fetus – the changes that cause them to differentiate into male and female respectively, occur. These changes occur in the same fetal tissue in both types of fetuses.  Cases of ambiguous genitalia occur when there is a disorder in the process of differentiation of this fetal tissue.

The following are possible causes of ambiguous genitalia:

In Genetic Females

1. Congenital Adrenal Hyperplasia: In this certain forms of this condition, the adrenal glands of the fetus produce excessive amounts of androgens (male hormones) which cause the female genitalia to look male.
2. Excessive Male Hormone Production: Tumors in the mother or child which produce male hormones can cause female genitalia to look male.
3. Ingestion of Certain Medications by a Mother: Certain substances or drugs have male hormone activity e.g. progestin taken to prevent miscarriages.
4. Chromosomal Abnormalities: These include conditions like Turner’s syndrome (XO), Swyer’s syndrome (XY female), mosaicism, etc.

In Genetic Males

1. Congenital Adrenal Hyperplasia: Certain forms of this condition cause reduced male hormone production which allows female-looking genitalia to develop. 
2. Unknown Causes or Genetic Abnormalities: This could cause a disruption of genital development.
3. 5-alpha-reductase Deficiency: This condition in genetic males makes their bodies unable to convert testosterone into its active form. The active form is necessary for development of normal male genitalia.
4. Androgen Insensitivity Syndrome: This syndrome causes an inability in the fetus to utilize male hormones and thus, female-type genitalia then develops. 
5. Ingestion of Certain Medications by a Mother: Certain substances or drugs have female hormone activity e.g. nutritional supplements which contain plant estrogens.
6. Chromosomal Abnormalities: These include conditions like Klinefelter’s syndrome (XXY), XYY syndrome, mosaicism, etc.

Types of Ambiguous Genitalia

1. True Hermaphroditism: Ovaries and testicles are present and the external genitalia are not clearly male or female. This condition is very rare.
2. Female Pseudohermaphroditism: The child has ovaries and a penis-like structure (usually due to clitoromegaly).
3. Male Pseudohermaphroditism: The child has undescended testicles and external female genitalia.
4. Mixed Gonadal Dysgenesis

Treatment of Ambiguous Genitalia

Treatment for ambiguous genitalia is a controversial topic. Many people especially intersex people believe that such a decision should be made by the individuals who have the condition when they are legally responsible, if they choose to. The following are the modes of treatment:

1. Counselling: Having ambiguous genitalia causes a lot of emotional distress for the individual.

2. Determination of the Individual’s Sex: This will include

-          Physical examination of the external genitalia by a physician

-          Chromosomal analysis to determine genetic sex

-          Pelvic ultrasound to check for the presence of reproductive organs e.g. undescended testes, ovaries, uterus etc.

-          Ability or potential of the individual to actually belong or adapt to either of the sexes.

3. Reconstructive Surgery: This is usually done to make the genitalia look more natural according to the chosen gender. It could also be done to help restore or promote sexual function.

4. Hormone Therapy: If the condition which caused the ambiguous genitalia is not very severe, hormone replacement therapy may be enough to correct it. Hormone therapy is also used to promote development of secondary sexual characteristics during puberty and sometimes, throughout life.