Congenital adrenal hyperplasia (CAH) is a group of hereditary disorders that disrupt healthyadrenal glandfunctions.
Thesalt-wastingform of congenital adrenal hyperplasia can be life-threatening if not treated immediately.
What Causes Congenital Adrenal Hyperplasia?
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Congenital adrenal hyperplasia is resulting from a genetic mutation.
Most people with CAH have a deficiency of the enzyme 21-hydroxylase.
This deficiency leads to lower cortisol levels.
This results in the overproduction of androgens and subsequentvirilization.
Classical CAH
Classical, or classic, CAH is usually discovered at birth or during early infancy.
There are two subtypes of classical CAH: thesalt-wasting typeand thesimple-virilizing punch in.
The second most common variant of CAH is 11 beta-hydroxylase deficiency (11-OHD).
It accounts for about 0.2%0.8% of all CAH cases.
This extremely rare form is seen in roughly 1 in 100,000200,000 live births.
Symptoms for non-salt-wasting, simple virilizing CAH are less likely to cause life-or-death medical emergencies.
Symptoms of nonclassical CAH can include:
When Is CAH Dangerous?
CAH is dangerous when it causes salt wasting.
The salt-wasting form of CAH causes sodium levels in the blood to plummet.
CSW can result in life-threatening complications such as anadrenal crisis, which requires immediate medical attention.
Dangerous symptoms associated with salt-wasting CAH include:
How Is CAH Diagnosed?
Blood and urine tests will also check electrolyte and sodium levels to determine whether someone is experiencing salt wasting.
Genetic testing may also be used to look for mutations associated with CAH.
Early detection is critical, especially when a newborn may have the salt-wasting form of CAH.
Treatment Options for CAH
Regular monitoring and follow-up care are necessary when treating CAH.
Glucocorticoid and mineralocorticoid replacement is the gold-standard treatment for CAH.
Medication dosage requirements will fluctuate across someone’s lifespan and in times of distress.
Some people require less medication as they get older.
Its important to find a surgeon who is a specialist and familiar with this procedure.
Living With CAH
Living with CAH often requires managing the condition on a daily basis.
Luckily, there are numerous support groups and counseling services designed specifically to help people cope with CAH.
Prenatal Screening: Will My Baby Have CAH?
Can I Prevent CAH in My Baby?
Medications can be taken to replace these missing hormones.
Although CAH isn’t curable, it’s a treatable condition.
With proper treatment and support, people with CAH can live long and healthy lives.
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