Disorders of Sexual Differentiation

Disorders of sexual differentiation are a group of conditions in which a person’s external genitals and internal reproductive organs don’t match. This can make it difficult to determine the sex of the child in some cases.

Patients can be seen by Texas Children's experts in Pediatric and Adolescent Gynecology.

Causes & Risk Factors

Disorders of sexual differentiation are congenital conditions, meaning they are present at birth. They are caused by abnormalities that occur during development of the reproductive system.

In some cases the abnormalities may be caused by exposing the fetus to hormones of the opposite sex while in the womb. In other cases, the cause of the abnormalities is not known.

Some examples include:

• Complete androgen insensitivity – where cells do not respond to male hormones, causing a genetic male to develop outwardly as a girl
• Congenital adrenal hyperplasia (CAH) – when the body produces too much of a male sex hormone, causing abnormal male development in females
• Vaginal agenesis – where a girl is born without a vagina

Symptoms & Types

Symptoms will depend on the underlying cause or specific condition. Symptoms in girls may include:

• Ambiguous genitalia at birth
• Enlarged clitoris
• Partial labial fusion
• Labial or groin masses which may turn out to be testes
• Delayed or absent puberty
• Unexpected changes at puberty, such as excessive hair growth

Diagnosis & Tests

Diagnosis starts with a thorough medical history and physical exam, including a pelvic exam.

Additional testing may include:

• Blood tests
• Chromosome testing
• Hormone testing
• Imaging – such as ultrasound or MRI (magnetic resonance imaging) to evaluate internal reproductive organs
• Surgery – to better evaluate anatomy using tiny telescopes

Treatment & Care

Treatment depends on the individual, the cause of the disorder and the symptoms.

Treatment strategies may include:

• Medications – such ashormone replacement therapy to correct any hormonal imbalance
• Surgery – to correct the function and appearance of the genitals and improve fertility
• Counseling – to help the girl and her family deal with the emotional and psychological challenges of disorders of sexual differentiation

Disorders of sexual differentiation are rare and complex conditions requiring a team of physicians with specialized expertise – including neonatologists, geneticists, endocrinologists,  psychiatrists, and social workers – all working together to improve the girl’s physical and emotional well-being.