Disorders of Sexual Differentiation | Diagnosis & Treatments

How are disorders of sexual differentiation diagnosed?

The first step in treating a child with disorders of sexual differentiation (DSDs) is forming an accurate diagnosis. A child can be diagnosed with a DSD as early as the newborn period and as late as adulthood. When children with DSDs also have ambiguous genitalia, the disorder can be diagnosed at birth. If doctors suspect a DSD on the initial newborn exam, pediatric specialists in urology and endocrinology will examine your baby right away.

These tests may include:

  • pelvic ultrasounds to look for female reproductive structures, such as a cervix, fallopian tubes, and a uterus
  • blood tests to determine the level of sex hormones in the blood
  • gonadal biopsy to assist in gender assignment
  • karyotyping, a type of analysis that allows doctors to determine the genetic sex of the baby
  • genitogram, a type of test that allows doctors to visualize the outline of the reproductive structures

What happens after a diagnosis has been made?

After a possible DSD is identified, your child’s doctor will explain any medical concerns and make sure you understand the results of the tests. If the child is old enough to be aware of the medical attention he or she is receiving, it’s important to explain what is happening in understandable terms. 

How we treat disorders of sex differentiation

The treatment options disorders of sex differentiation vary depending on the complexity of your child's disorder. The medical treatments may include hormone replacement therapy, surgery, and psychosocial support.

Surgery

Surgical interventions depend on what type of DSD your child has. In some cases, surgery may be required. In other cases, surgery remains an elective (optional) procedure.

Situations where surgery is required:

  • conditions where ambiguous genitalia interfered with a child's sexual and reproductive function (In this case, appropriate sex organs may need to be removed or created in order for them to function properly)
  • conditions like mixed gonadal dysgenesis, where sex assignment is needed; this sex assignment is important for treatment purposes as well as the emotional well being of the child as they grow older
  • if a gonad is cancerous or is at risk for becoming cancerous

Reconstructive surgery to improve the aesthetic appearance of the genitals is often elective. Girls who are born with a condition that causes male-appearing genitalia, like congenital adrenal hyperplasia, often undergo reconstructive surgery to reduce the clitoral size and make the vaginal opening better defined. Male reconstructive genital surgery is used to straighten the penis and move the urethra to the tip of the penis.

Hormone replacement therapy

In terms of lifelong management of DSDs, the goal is to keep hormone levels at a normal level. In order to do this, your child may need to take a daily form of cortisol medication, such as: 

  • dexamethasone
  • fludrocortisone
  • hydrocortisone

Girls may need hormonal therapy throughout their lives, which is given as a daily pill.