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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:
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.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”