Congenital Adrenal Hyperplasia: Symptoms and Treatments

Congenital adrenal hyperplasia (CAH) is an inherited disorder caused by the deficiency of an enzyme that produces cortisol and aldosterone. The condition can affect females and males. Congenital adrenal hyperplasia (CAH) is a disorder of the endocrine system that causes the body to make high levels of male hormones. Those who are born with this disease are usually diagnosed soon after birth through the newborn screening program.

According to the National Organization for Rare Diseases, CAH affects around 1 in every 15,000 newborn children. CAH is passed down through families, so most cases are inherited.

Types of Congenital Adrenal Hyperplasia

Classic CAH

It usually affects infants and young children. An enzyme known as 21-hydroxylase is responsible for producing cortisol and aldosterone in the adrenal glands. The adrenal glands cannot produce these hormones if this enzyme is missing in classical CAH.

Furthermore, the body makes too much testosterone, a hormone associated with the male sex. This causes girls and boys to display masculine traits early on, including abnormal appearance of the genitalia.

Nonclassical CAH

Nonclassical CAH, also known as late-onset CAH, affects children and young adults. It is caused by a partial enzyme deficiency instead of a complete lack of enzymes.

Complications

The low level of cortisol in children with classic CAH puts them at risk for an adrenal crisis. The result can be vomiting, dehydration, low blood sugar, low blood pressure and shock. Adrenal crises are life-threatening and require immediate attention. Dehydration may also result from low aldosterone and abnormal potassium and sodium levels. There is typically no adrenal crisis associated with the nonclassical form of CAH.

It can be difficult to identify symptoms of congenital adrenal hyperplasia, especially since they may resemble the effects of other conditions or diseases. Prompt diagnosis and management is highly important.

For more information, please visit us at kapendocrine.com or call 615-857-5110 to speak with Dr. Nidhi Gupta.