What are the other Names for this Condition? (Also known as/Synonyms)

• 21-Hydroxylase Deficiency
• CAH (Congenital Adrenal Hyperplasia)
• Congenital Adrenogenital Disorders Associated with Enzyme Deficiency

What is Congenital Adrenal Hyperplasia? (Definition/Background Information)

• Congenital Adrenal Hyperplasia (CAH) is a group of genetic disorders that leads to low production of vital adrenal cortex hormones. Cortisol and aldosterone are not adequately produced in individuals with CAH, which upsets the balance of hormones in the body
• Due to the low levels of cortisol that are experienced in Congenital Adrenal Hyperplasia, the adrenal gland begins to instead manufacture androgens (male steroid hormones) at levels that are not beneficial to the body
• With the abnormal level of androgens being produced, girls experience abnormal clitoris growth and other masculinization features, while boys experience a rapid body growth
• Congenital Adrenal Hyperplasia is inherited in an autosomal recessive pattern, where two copies of the abnormal gene must be present in order for the disorder to be manifested. Most cases are due to mutations and deletions in the CYP21A gene
• Medications may be used to correct hormonal imbalances and corrective surgeries may be performed for ambiguous genitalia. The affected individuals are able to manage their lives with suitable management of CAH and the use of medications (that needs to be taken lifelong)

Who gets Congenital Adrenal Hyperplasia? (Age and Sex Distribution)

• Congenital Adrenal Hyperplasia is a lifelong disorder that manifests at birth; the symptoms and signs are apparent at birth
• The prevalence rate of CAH ranges from 1 in 10,000-18,000 live births and the condition is rare
• Both males and females are equally affected by CAH
• All racial and ethnic groups are at risk and this condition is seen to occur worldwide

What are the Risk Factors for Congenital Adrenal Hyperplasia? (Predisposing Factors)

• A positive family history is the only risk factor for Congenital Adrenal Hyperplasia; CAH is a condition that is inherited from parents, who carry certain defective genes

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Congenital Adrenal Hyperplasia? (Etiology)

Congenital Adrenal Hyperplasia is a group of inherited genetic disorders caused by mutations to the CYP21A gene.

• In most cases, these mutations are passed down the family in an autosomal recessive pattern
• The severity of the disorder depends on the extent of deletions and mutations on the gene

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children, born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Congenital Adrenal Hyperplasia?

Common signs and symptoms of Congenital Adrenal Hyperplasia may include:

• Low cortisol and low aldosterone levels
• Abnormal clitoris growth and masculinization (in girls)
• Irregular menstruation
• Rapid body growth (in boys)
• Early puberty
• Salt-wasting; disproportionate excretion of salt from the body
• Excessive hair growth
• Infertility

How is Congenital Adrenal Hyperplasia Diagnosed?

A diagnosis of Congenital Adrenal Hyperplasia may be established as follows:

• Complete physical examination with thorough medical and family history evaluation
• Hormone level testing is the most common method of diagnosing Congenital Adrenal Hyperplasia. Hormone testing is usually done at birth in order to take prompt action and begin treatment, so that the child will be able to lead a more normal life
• Genetic testing is another common method of identifying CAH or the chance that a child will be born with the condition

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Congenital Adrenal Hyperplasia?

The complications that could arise from Congenital Adrenal Hyperplasia may include:

• Early puberty: It is common in individuals with CAH, which often leads to premature growth completion. This means that it can result in a shorter ‘adult’ height. While this is not a major health complication, it may be emotionally stressful for the affected individual
• Social isolation and ostracism

How is Congenital Adrenal Hyperplasia Treated?

Congenital Adrenal Hyperplasia can be treated using a variety of methods.

• Glucocorticoids, fludrocortisones, and aldosterone replacers are common drugs to improve hormone balance and lessen symptoms of CAH. These medicines must be taken throughout one’s life in order to maintain health
• Many individuals with CAH are also shorter than other individuals of the same age. Steroid treatments are commonly used to improve their growth (height)
• Corrective surgeries may be performed on infants with ambiguous genitalia

How can Congenital Adrenal Hyperplasia be Prevented?

• Currently, there are no specific methods or guidelines to prevent Congenital Adrenal Hyperplasia, which are genetic disorders
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as Congenital Adrenal Hyperplasia

What is the Prognosis of Congenital Adrenal Hyperplasia? (Outcomes/Resolutions)

• Currently, there is no cure for Congenital Adrenal Hyperplasia
• With early detection and treatment, the symptoms may be minimized or improved, and individuals with CAH are able to lead relatively normal lives

Additional and Relevant Useful Information for Congenital Adrenal Hyperplasia:

Congenital Adrenal Hyperplasia used to be known by the term Congenital Adrenogenital Syndrome, due to its association with both the adrenal glands and sex hormones. However, CAH is now the preferred term.