Hermaphroditism, also referred to as intersex, is a condition in which there is a discrepancy between the external and internal sexual and genital organs. It is grouped together with other conditions as a disorder of sex development (DSD).
There are four different types of hermaphroditism, as follows:
- 46, XX hermaphroditism
- 46, XY hermaphroditism
- True gonadal hermaphroditism
- Complex hermaphroditism
Even with the introduction of modern diagnostic methods, the cause of hermaphroditism is not able to be determined in many children. This is referred to as complex or idiopathic hermaphroditism.
46, XX hermaphroditism
An individual with 46, XX hermaphroditism has two XX chromosomes and the ovaries of a woman, but has external genitalia that appear to be male.
This type is usually caused by the excessive exposure of the female fetus to male hormones in the womb. There is fusion of the labia, and the clitoris becomes enlarged to resemble a penis. Internally, the female sexual organs such as the uterus and fallopian tubes have a normal structure.
46, XY hermaphroditism
An individual with 46, XY hermaphroditism has one X and one Y chromosome, as is usually seen in males, but the external genitalia are either not completely formed, or resemble those of females. The internal sexual organs may be normal, incomplete or absent, depending on the specific case.
This type usually occurs because of an imbalance of female and male hormones. It may be caused by abnormal function of the testes, reduced ability to produce testosterone, or difficulty in utilizing the testosterone produced in the body.
True Gonadal Hermaphroditism
An individual with true gonadal hermaphroditism has both ovarian and testicular tissue, either in the same gonad (referred to as an ovotestis) or in one ovary and one testis. Some affected individuals have XX chromosomes, others have XY chromosomes, and others have a combination of both. Likewise, the external genitalia can vary in form, from male, or female, to ambiguous.
The cause of this type of hermaphroditism is not clear. Some animal studies have suggested a link to exposure to agricultural pesticides, although this has yet to be established in human studies.
Complex hermaphroditism involves other disorders of sexual development beyond simple 46, XX and 46, XY. These may include:
This type is not usually associated with a discrepancy between the internal and external genitalia. Instead, the individual shows abnormal levels of sex hormones and incomplete sexual development.
Signs and symptoms
The signs and symptoms of hermaphroditism depend on the type of condition. They may include:
- Ambiguous genitalia
- Labial fusion
- Undescended testes
- Electrolyte abnormalities
- Delayed, absent or abnormal pubertal changes
There are several diagnostic tests that may play a role in identifying the condition and deciding upon the appropriate course of action. These may include:
- Analysis of chromosomes
- Blood tests to investigate hormone and electrolyte levels
- Hormone stimulation tests
- Molecular testing
- Endoscopic exam
- Ultrasound imaging
- Magnetic resonance imaging (MRI)
A child with hermaphroditism will usually require care from a multidisciplinary healthcare team to address the various needs presented.
There is also significant controversy and stigma related to the treatment of hermaphroditism. Previously, a gender was assigned early in the treatment process, usually based on the external genitalia. Accordingly, surgery and hormonal therapy was recommended. However, more recently the complexity of gender and sexuality has been acknowledged. The treatment of patients is therefore becoming more individualized and less standardized.
Hermaphroditism is a complex issue and the ideal treatment of the condition is not clear. It is important that affected individuals have access to adequate support to deal with any issues related to the condition. Their family and friends may also benefit from such support groups.