Max Lab
Feb 07, 2024
Congenital adrenal hyperplasia (CAH) refers to a group of genetic disorders that can affect the adrenal glands. Located on top of the kidneys, the adrenal glands produce several important hormones that are needed by the body to function properly.
The hormones produced by the adrenal glands include:
In congenital adrenal hyperplasia, the body lacks an enzyme that is needed by the adrenal glands to produce the hormones.
The disorder can be found in infants as well as in adults. Congenital adrenal hyperplasia has two types, which are:
Classic Congenital Adrenal Hyperplasia
Typically detected at the time of birth or during an infant’s early years, classic CAH is the rarer but more severe form of congenital adrenal hyperplasia. If not diagnosed and treated early, the disorder can even be fatal, leading to complications like shock or coma. Classic CAH is further categorised into two sub-types: -
Non-Classic Congenital Adrenal Hyperplasia
Non-classic CAH is the milder form of congenital adrenal hyperplasia and generally means that there is excessive production of androgens in the body. This form of CAH generally develops later, during childhood, puberty, or even early adulthood. Many times, it may not even display any symptoms but may impact one’s sexual development. Non-classic CAH may be diagnosed through blood and urine tests, physical examination, and genetic testing.
Congenital adrenal hyperplasia is known to be an autosomal recessive disorder, which means that it may be inherited by a child when both parents have autosomal recessive gene traits.
Genetic mutations like these can impact the supply of part particular enzymes called 21-hydroxylase and 11-hydroxylase. The absence of either one of these enzymes is one of the leading causes of congenital adrenal hyperplasia.
Low levels or a complete lack of these enzymes results in decreased cortisol levels as well. To make up for the shortage of cortisol, the adrenal glands start producing more androgens, or male hormones.
The symptoms of congenital adrenal hyperplasia may vary, depending on the type of CAH. The symptoms also vary based on which gene is defective and the level of enzyme deficiency one has.
Classic CAH results in a higher production of androgens in one’s body, the symptoms of which appear at birth or in early infancy. Further, the symptoms of congenital adrenal hyperplasia in females are different from those in males. However, some common symptoms that one may notice include:
Other symptoms that may be a result of the hormonal imbalances include:
Non-classic CAH may start displaying symptoms at the onset of puberty or during early adulthood. For this type of congenital adrenal hyperplasia, the symptoms may include:
The treatment for congenital adrenal hyperplasia may vary depending on its type and the severity of the condition. Most treatment plans for CAH aim to reduce the excessive amounts of androgens in the body while also including supplements to make up for the deficient hormones.
However, the treatment for congenital adrenal hyperplasia in adults and children is similar. A healthcare provider may suggest hormone replacement therapy or steroids after a thorough examination of the symptoms through a number of diagnostic tests and a physical examination. Apart from oral medication and supplements, surgery can also be considered by females with CAH for functional or cosmetic purposes.
It is important to remember that while congenital adrenal hyperplasia poses its own set of challenges, early detection and proper treatment at the right time can make a world of difference, with most individuals leading healthy lives afterwards.
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