Mixed Gonadal Dysgenesis in Children | Diagnosis & Treatment

The first step in treating a child with mixed gonadal dysgenesis (MGD) is forming an accurate diagnosis. A baby can be diagnosed with MGD soon after birth, when a through physical examination and a series of tests are performed.

How can doctors tell if my child has MGD?

MGD is diagnosed based on the presence of the two abnormal gonads: the undescended testis on one side and the streak gonad on the other. During a physical exam, a physician is only able to feel the testis because the streak gonad isn’t something that can be felt.

If doctors suspect MGD 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 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.

Can MGD be detected prenatally?

No, MGD is extremely difficult to detect prenatally. Amniocentesis, a procedure doctors use to identify chromosomal disorders in fetuses, isn’t able to accurately detect MGD. This is because a person can have the mosaic 45 XO karyotype involved in MGD and still look normal. A diagnosis of MGD is made based on the presence of the two abnormal gonads, which don’t necessarily result from having the mosaic karyotype.

At Boston Children's Hospital, the first step in treating your child's is to determine the appropriate sex for your child. This is done as a partnership between your team of health care providers and your family. This determination will inform the course of treatment. You, as parents, will be involved every step of the way.

How is a gender assigned?

Gender assignment is important for treatment purposes as well as the emotional well being of the child as he grows older.  Once you and your child's doctor decide on the appropriate gender for your baby, it's a matter of determining what treatments are most beneficial.

Typically, the decision on whether to raise a child with MGD as male or female is based on the child's anatomy. If raised male, the child typically makes enough testosterone and wouldn't need additional hormone therapy, which is an additional benefit.

Raising a child with MGD as female is a bit more complicated. Because she has a testis that's producing testosterone and she doesn't have a normal ovary, surgery will need to be done to remove the testis and the girl will need to be on hormone replacement therapy to receive adequate estrogen.

What treatments are available?

The medical treatment options for DSDs may include:

Surgery

  • Regardless of what sex is assigned to a child, corrective surgery is usually needed to remove or create the appropriate sexual organs.  To avoid any risks associated with anesthesia, corrective surgery usually happens after a child is 6 months old.
  • If the child is raised as male, based on having one decent testis and a decent phallus, it's likely that the female ductal structures on the opposite side would need to be removed.
  • The decision to raise a child as female might be made if the phallus is very small and the doctor believes that the child would function better as a girl. In this case, surgery would be needed to remove the testis

Hormone replacement therapy (HRT)

  • In terms of lifelong management of MGD, 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

Will children with MGD receive hormone therapy throughout their whole lives?

It depends on the gender of the child.  A male child with a testis that's functioning well enough to produce male hormones won't need hormonal therapy. Children reared as females would need hormonal therapy throughout their lives because they don't have a normal ovary.

How do you determine that my child's hormone levels are normal and is progressing as they should be?

For males, blood can be tested to make sure testosterone levels are normal. A male might not need hormone therapy if his testis functions adequately. A doctor will also perform routine clinical examinations to see how a boy is maculinizing. The questions they will want to answer include: Is the penis growing? Are the existing testes growing? Are they developing pubic hair?

Since females can't produce their own estrogen, doctors will make sure she receives hormone replacement therapy throughout her life. Blood tests can establish that a girl's estrogen levels remain normal.