Congenital Adrenal Hyperplasia (CAH)

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What is Congenital Adrenal Hyperplasia (CAH)? CAH is an inherited group of genetic disorders that limits hormone production in the adrenal glands. It is also called Adrenogenital Syndrome. The adrenal gland is a pair of walnut-sized organs above the kidneys. These organs are made up of two parts; the outer part called the “cortex” and […] Read More

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Congenital Adrenal Hyperplasia (CAH)

What is Congenital Adrenal Hyperplasia (CAH)? CAH is an inherited group of genetic disorders that limits hormone production in the adrenal glands. It is also called Adrenogenital Syndrome. The adrenal gland is a pair of walnut-sized organs above the kidneys. These organs are made up of two parts; the outer part called the “cortex” and the inner part called the “medulla”, and each produces important hormones.
  • The cortex produces cortisol, aldosterone, and androgens.
  • The medulla produces dopamine, adrenaline, and noradrenaline.
In CAH patients, this genetic problem results in a lack of one of the 5 enzymes needed to synthesize cortisol in the adrenal cortex. CAH affects a child’s normal growth and development.  Types of CAH There are 2 major types of CAH and they include:
  • Classic CAH
This form is rare and is usually seen in infants. Classic CAH is subdivided into 2 forms:
  • Salt Wasting
In severe enzyme deficiency, insufficient aldosterone production can lead to salt wasting, failure to thrive (stunted growth), and potentially fatal hypovolemia and shock. Salt loss CAH posses an increased risk of early neonatal morbidity and death.
  • Simple Virilizing
This is due to 21-hydroxylase deficiency and is characterized by genital ambiguity and virilization of the external genitalia in females and pseudo puberty in both boys and girls
  • Non-classic CAH
This is a milder and more common form of CAH. There are no clear symptoms of non-classic CAH when a baby is born, but evidence may begin in late childhood or early adulthood. Cortisol may be the only hormone that is deficient.  Teenage and adult females suffering from non-classic CAH may have normal appear in genitals at birth, but later in life, they may experience;
  • Irregular or absent menstrual periods,
  • Severe acne,
  • Masculine features like facial hair, excessive body hair, deepened voice, etc.
Other signs in both males and females include:
  • Early development of pubic hair,
  • Rapid growth during childhood,
  • Shorter final height.
Possible Complications People who have classic CAH are at risk of adrenal crisis because of very low cortisol levels in the blood and can cause: 
  • Dehydration,
  • Vomiting,
  • Low blood sugar levels,
  • Shock.
Aldosterone may also be low leading to:
  • Low sodium level,
  • Low potassium level,
  • Dehydration.
Either classic or non-classic CAH may cause fertility problems in both male and female genders. Prevention Congenital adrenal hyperplasia is an inherited disease that spans from birth through life. There is no known way to prevent it.  If you fall into the risk groups and you are about to start a family, it is recommended that you see a genetic counselor. Treatments There is no cure for congenital adrenal hyperplasia, however, with proper treatment, most victims can lead normal lives. Treatments are aimed at the management and control of the syndrome. And this involves:
  1. Replacement Hormone Medication; steroids like hydrocortisone, prednisone, dexamethasone, etc, and hormone-based chemotherapy.
  2. Reconstructive Surgery; for genital reconstruction and is an option for girls.
For both treatments, do visit a medical consultant for advice and direction.

Symptoms

Symptoms of CAH

Among the signs that show as a result of the type of CAH a child has, other symptoms may include:

  1. Excessive urination of sodium.
  2. Early, delayed, or absent puberty.
  3. Virilism.
  4. Hyperandrogenism.

Causes

Causes of CAH

The most common cause of congenital adrenal hyperplasia is a 21-hydroxylase deficiency. 

Factors that increase the risk of having CAH include:

  • Autosomal Excessive Inheritance Pattern; is the combination of 21-hydroxylase deficiency with other rare enzyme deficiencies that can cause CAH. 

Children who have this condition have two parents who are CAH patients or are both carriers of the genetic mutation that creates the condition.

  • Certain ethnic heritages like Hispanic, Italian, Ashkenazi Jews, Yugoslav, etc.

FAQ

What are the treatment options for CAH?

Treatment is with steroids that replace the low hormones. Infants and children take a form of cortisol called “hydrocortisone”, while adults can take hydrocortisone, prednisone, or dexamethasone. These all replace cortisol.

Can CAH be cured?

Congenital adrenal hyperplasia is a genetic problem which results in the leak of one of the enzymes needed to synthesize these hormones. Although there is no cure, with proper treatment, most people with CAH can lead normal lives.

How is congenital adrenal hyperplasia inherited?

All forms of CAH are inherited. Either one or both parents may have CAH or may be carriers of the genetic mutation that cause the condition and pass it down to their children through the genetic strand.

Can people with CAH drink alcohol?

Moderate drinking of alcohol does not affect CAH or it's treatment. However, much alcohol intake can affect the breakdown of steroids in the liver rendering the treatment less effective. Low alcohol intake is advised for CAH patients.

 

Can you get pregnant with CAH?

 

Pregnancy Is possible for CAH patients while on routine maintenance therapy. About 80% of women with simple virilizing and 60% of women with salt-wasting forms are fertile.