Pseudohermaphroditism: An Overview

What is Pseudohermaphroditism?

Pseudohermaphroditism is a condition in which an individual has the external genitalia of one sex but the internal genitalia of the other. This can be caused by a variety of factors, including genetic disorders, hormonal imbalances, and exposure to certain chemicals.

Types of Pseudohermaphroditism

There are two main types of pseudohermaphroditism:

• Male pseudohermaphroditism occurs when an individual has the external genitalia of a male but the internal genitalia of a female.
• Female pseudohermaphroditism occurs when an individual has the external genitalia of a female but the internal genitalia of a male.

Causes of Pseudohermaphroditism

The causes of pseudohermaphroditism can be divided into two main categories:

• Genetic causes are the most common cause of pseudohermaphroditism. These causes can be inherited or acquired.
• Environmental causes are less common than genetic causes. These causes can include exposure to certain chemicals, such as diethylstilbestrol (DES).

Symptoms of Pseudohermaphroditism

The symptoms of pseudohermaphroditism can vary depending on the type of pseudohermaphroditism and the underlying cause.

Symptoms of male pseudohermaphroditism can include:

• Ambiguous genitalia
• Undescended testicles
• Hypospadias
• Infertility

Symptoms of female pseudohermaphroditism can include:

• Ambiguous genitalia
• Clitoromegaly
• Amenorrhea
• Infertility

Diagnosis of Pseudohermaphroditism

The diagnosis of pseudohermaphroditism is based on a physical examination and a review of the individual’s medical history.

The following tests may also be used to confirm the diagnosis:

• Karyotyping
• Hormone testing
• Imaging studies

Treatment of Pseudohermaphroditism

The treatment of pseudohermaphroditism depends on the type of pseudohermaphroditism and the underlying cause.

Treatment may include:

• Surgery to correct the ambiguous genitalia
• Hormone therapy
• Genetic counseling

Prognosis for Pseudohermaphroditism

The prognosis for pseudohermaphroditism varies depending on the type of pseudohermaphroditism and the underlying cause.

With proper treatment, most individuals with pseudohermaphroditism can live full and healthy lives.