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Congenital Adrenal Hyperplasia 

Congenital adrenal hyperplasia is a group of genetic adrenal disorders that affect hormone production. 

In order for the body’s adrenal glands to produce the hormones that assist with numerous bodily functions, they need help from enzymes. But certain genetic mutations can cause the body to underproduce these enzymes, which forces the body to overproduce androgens (male sex hormones) while not making enough cortisol (stress and illness response hormones). This is known as congenital adrenal hyperplasia (CAH), which is classified in two ways. There is classic CAH, which is observed in infancy, and nonclassic CAH, which is usually detected in late childhood or early adulthood. 

What Causes Congenital Adrenal Hyperplasia? 

Congenital adrenal hyperplasia is a genetic condition inherited from one or both parents, who either have CAH themselves or are carriers of its genetic defect. As such, there is no way to prevent a child from developing CAH in the womb. 

Signs & Symptoms of Congenital Adrenal Hyperplasia 

Classic congenital adrenal hyperplasia, which doctors always screen for at birth, can cause children to expel too much salt and water in their urine (salt-wasting CAH) as a result of low aldosterone levels. Simple-virilizing CAH, another form of classic CAH, is less severe as the body is able to produce slightly more aldosterone than in salt-wasting CAH. In both instances, cortisol levels may be low while androgen levels rise.  

Signs to look for include:

  • Premature signs of or changes in puberty 
  • Fast early growth, but short final height 
  • Abnormal external genitalia, particularly in females 
  • Development of male characteristics in females 

Nonclassic CAH does not show up in infant blood screening and isn’t usually identified until at least late childhood (though it can also be diagnosed in adults). This is the mildest form of congenital adrenal hyperplasia.  

Symptoms include: 

  • Early signs of and changes in puberty 
  • Fast growth in childhood and teenage years 
  • Irregular menstrual periods 
  • Male-pattern baldness 

Diagnosing Congenital Adrenal Hyperplasia 

Nonclassic congenital adrenal hyperplasia is usually only diagnosed when a patient begins to exhibit symptoms. Classic CAH is almost always diagnosed in infants. 

Treating Congenital Adrenal Hyperplasia 

While there is no cure for congenital adrenal hyperplasia, it can be managed with proper treatment. This is especially important for people living with classic CAH, which can cause a life-threatening adrenal crisis if left untreated. Classic CAH is treated with hormone replacement medications, while nonclassic CAH does not always require treatment. Corticosteroids or fertility drugs may be prescribed in some cases. The specialists at Tampa General Hospital expertly treat congenital adrenal hyperplasia and other adrenal/endocrine disorders with world-class care.