Congenital Adrenal Hyperplasia

What is Congenital Adrenal Hyperplasia (CAH)?

A series of genetic conditions known as congenital adrenal hyperplasia (CAH) damage the adrenal glands, which are in charge of manufacturing vital hormones. A lack of certain enzymes required for producing hormones is the root cause of CAH. 21-hydroxylase insufficiency is the most prevalent kind of CAH.

What are the causes and symptoms of CAH?

CAH is usually a hereditary disorder caused by a mutation in one of the genes involved in hormone synthesis. The most prevalent form of CAH is caused by a CYP21A2 gene mutation, which results in a lack of the 21-hydroxylase enzyme. CAH can arise randomly in some people with no family history of the disorder.

The symptoms differ based on the degree of the enzyme deficit and the kind of CAH. Symptoms of severe instances may include:

  • Females with genital ambiguity at birth
  • Salt insufficiency can result in dehydration, vomiting, and low blood pressure.
  • Infants with inadequate weight gain and growth
  • Puberty begins early in both males and girls.
  • Adolescent acne with excessive hair growth (hirsutism).
  • Women with irregular menstruation cycles or fertility issues

How to manage CAH effectively?

  • Hormone replacement therapy: This involves replenishing insufficient hormones, particularly cortisol, and aldosterone to regulate the body's response to stress, the maintenance of blood sugar levels, and the control of inflammation. Aldosterone replacement therapy aids in the regulation of salt and water balance in the body.
  • Monitoring and Adjustment: It is critical to monitor hormone levels, growth, and development on a regular basis and frequent visits to an endocrinologist are required to assess the success of hormone replacement therapy.
  • Salt Supplementation: Salt supplementation is especially crucial when the body loses more salt than usual due to illness, heavy sweating, or hot weather.
  • Glucocorticoid Stress Dosing: To compensate for the increased demand on the body during times of illness, injury, or other forms of physical stress, extra glucocorticoid medication may be required.
  • Surgical Intervention: Surgical intervention may be suggested in some cases of CAH. Girls born with ambiguous genitalia, for example, may require reconstructive surgery, and the decision to proceed is made in conjunction with a team of professionals that includes paediatric endocrinologists, surgeons, and psychologists.
  • Psychological support: Living with a chronic disease, such as CAH, can have emotional and psychological implications. Individuals with CAH and their families can benefit from psychological support, counselling, and education to help them cope with the condition.