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.
3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency (Congenital Adrenal Hyperplasia)
What Your Test Results Mean:
Test results indicate that you are a carrier of 3-beta-hydroxysteroid dehydrogenase type II deficiency (CAH). Carriers are not expected to show symptoms. You and your partner would both have to be carriers of CAH for there to be an increased chance to have a child with symptoms; this is known as autosomal recessive inheritance. Carrier testing of your partner or donor is recommended in addition to consultation with a genetic counselor for a more detailed risk assessment.
Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.
CAH is an inherited condition that affects hormone-producing glands including the gonads (ovaries and testes) and the adrenal glands. The gonads direct sexual development before birth and during puberty. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones and control salt levels in the body. There are three types of CAH: the salt-wasting, non-salt-wasting, and non-classic types.
In the salt-wasting type, hormone production is extremely low. Individuals with this type lose large amounts of sodium in their urine, which can be life-threatening. Individuals affected with the salt-wasting type are usually diagnosed soon after birth due to complications related to a lack of salt reabsorption, including dehydration, poor feeding, and vomiting. Individuals with the non-salt-wasting type of CAH produce enough hormone to allow sodium reabsorption in the kidneys. Individuals with the non-classic type have the mildest symptoms and do not experience salt wasting.
In males with any type of CAH, problems with male sex hormones lead to abnormalities of the external genitalia. These abnormalities range from having the opening of the urethra on the underside of the penis (hypospadias) to having external genitalia that do not look clearly male or female (ambiguous genitalia). Affected males are also frequently infertile.
Females with CAH may have slight abnormalities of the external genitalia at birth. Females affected with the non-salt-wasting or non-classic types are typically not diagnosed until mid-childhood or puberty, when they may experience irregular menstruation, premature pubic hair growth, and excessive body hair growth. Females with CAH also have impaired fertility.
The long-term prognosis for people with CAH is usually good-to-excellent with adequate hormone replacement therapy monitoring.
Treatment may include hormone replacement therapy which is typically monitored by an endocrinologist. Individuals with ambiguous genitalia may require surgery to correct the function and appearance of the external genitalia.
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