Disorders of Sexual Differentiation
Disorders of sexual differentiation refer to a group of conditions where the body’s genitals and reproductive organs do not match and do not fit with the definitions of either a male or a female. For example, the baby may look like a female from outside, but may have male anatomy. If a baby is born with disorders of sexual differentiation, the baby will have a combination of male and female sexual characterises.
Disorders of sexual differentiation are a rare condition. To diagnose and treat this condition, it requires a team of experienced and specialized doctors to work together.
What Causes Disorders of Sexual Differentiation?
Disorders of sexual differentiation are also known as intersex disorders or ambiguous genitalia. This condition exists from the time of birth. If females have this condition, they may have an enlarged clitoris, abnormal labia, and urogenital sinus. Males with this condition will can have a small penis, undescended testes, and abnormal scrotum.
The exact cause of disorders of sexual differentiation is unknown. It may occur due to variations in the genital and chromosomal abnormalities. Congenital adrenal hyperplasia (CAH) is the most common cause of intersex disorders. CAH is a condition where the baby does not have an enzyme in the adrenal gland to produce cortisol and aldosterone hormones. This leads to the excess production of a male sex hormone called androgen during fetal development. This causes male sexual characteristics in the baby.
In some cases, it may also develop due to exposure to the hormones of the opposite gender during the development of the embryo. Disorders of sexual differentiation may also develop due to the androgen sensitivity. If the baby has this condition, he is genetically a male, but the body does not respond to male hormones and will have female external sexual characteristics.
How Are Disorders of Sexual Differentiation Diagnosed?
If the sexual organs of the baby are not clear at birth, then the diagnosis is performed immediately. In some cases, the condition is not recognized until the child reaches puberty. If the baby has partial androgen insensitivity syndrome, the genitals look different at birth and the diagnosis is performed right away. If it is caused by complete androgen insensitivity syndrome, the condition remains undetected until the girl fails to menstruate.
The diagnosis of disorders of sexual differentiation starts with a pelvic exam and the evaluation of medical history. The doctor conducts several tests such as the following to confirm the diagnosis:
- Blood tests to check the hormone levels
- Chromosomal testing
- Imaging tests such as an MRI to evaluate the sexual organs
How are Disorders of Sexual Differentiation Treated?
The treatment for disorders of sexual differentiation is based on the cause of the condition and its signs. The treatment options include:
- Medications: Medications such as supplemental hormones can be used to correct the hormonal imbalance and to manage other development issues.
- Surgery: Surgery involves the reconstruction of the genitalia to promote fertility.
In some cases, a combination of medications and surgery is used to treat the condition.
Dr Mallikarjuna Reddy – A Qualified and Experienced Pediatric Urologist in Hyderabad
Dr Mallikarjuna Reddy offers a wide range of healthcare services for children, from birth to adolescence. He closely works with you to understand your child’s needs and determines the right choice of treatment. During your initial consultation, he explains everything in detail and answers any questions you may have. To know more, schedule your initial consultation today.