What Does NxGen MDx Screen For?
We screen for up to 120 genetic disorders that can affect your pregnancy, the health of your baby, and your family's future. You can learn more about our various screens — and which sets of screens (or "panels") align with where you are in your reproductive journey.
X-Linked Congenital Adrenal Hypoplasia
What Your Test Results Mean:
Test results indicate that you are a carrier of X-linked congenital adrenal hypoplasia. Some female carriers can show symptoms, while others show no symptoms at all. Female carriers also have an increased chance to have a child with X-linked congenital adrenal hypoplasia. The chance to have a child with X-linked congenital adrenal hypoplasia depends on the sex of the child. Consultation with a genetic counselor for a more detailed risk assessment is recommended.
Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.
X-linked adrenal hypoplasia congenital is an inherited disorder that disrupts the body’s production of hormones and is usually present in boys. One of the main signs is adrenal insufficiency, which begins in infancy or childhood with symptoms such as vomiting, difficulty with feeding, dehydration, low blood sugar, and shock. Boys with this disorder may also have a shortage of male sex hormones, causing underdeveloped reproductive tissues, undescended testicles, delayed puberty, and infertility.
If untreated, X-linked adrenal hypoplasia can be life-threatening. With early diagnosis and proper medication management, most individuals have a normal life expectancy.
There is no cure for X-linked adrenal hypoplasia. Acute salt-wasting is usually treated with close monitoring in a hospital setting. Hormone replacement medications can help reduce some symptoms.
Talk to a Genetic Counselor
As a NxGen client, you'll have access to personal genetic counselors who can help explain the results of your screens and provide insight on how to move forward. To schedule a personal conference to discuss your screen results, call (855) 776-9436. or click the link below.Discuss Your Screening Results