Overview
Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that affect the adrenal glands. These glands, situated above the kidneys, play a crucial role in hormone production. CAH results from enzyme deficiencies that impact cortisol and aldosterone synthesis.
Types of Congenital adrenal hyperplasia (CAH)
- Classic CAH:
- Salt-Losing Form: Severe deficiency affecting both cortisol and aldosterone. Presents with vomiting, dehydration, and low blood pressure.
- Simple-Virilizing Form: Less severe, primarily affecting cortisol production. Leads to early virilization (masculinization) in females.
- Nonclassic CAH:
- Milder form, often diagnosed during childhood or early adulthood. Symptoms may include irregular menstrual cycles, hirsutism (excessive hair growth), and acne.
Causes of Congenital adrenal hyperplasia (CAH)
CAH results from a deficiency in one of the enzymes required for cortisol synthesis. The most common cause is a deficiency of the enzyme 21-hydroxylase. Cortisol and aldosterone regulate metabolism, blood pressure, and immune function.
Risk Factors of Congenital adrenal hyperplasia (CAH)
- Genetics: Both parents carrying a recessive gene or having CAH.
- Ethnicity: Certain groups (e.g., Jews, Hispanics) may be at higher risk.
Symptoms of Congenital adrenal hyperplasia (CAH)
Symptoms vary based on the specific gene defect and enzyme deficiency:1. Classic CAH: Infants: Enlarged genitals (ambiguous in females), rapid growth.
Adults: Early pubic hair growth.
2. Nonclassic CAH: Females: Absence of menses, deep voice, excessive facial/body hair, acne.
Both genders: Early pubic hair appearance.
Preventions of Congenital adrenal hyperplasia (CAH)
Genetic counseling before starting a family is essential to prevent CAH.
Diagnosis of Congenital adrenal hyperplasia (CAH)
- Newborn Screening: Classic CAH is screened in developed countries.
- Prenatal Testing: Detects CAH in fetuses.
- Physical Examination: Ambiguous genitalia or signs of shock.
- Blood Tests: Measure hormone levels and monitor electrolytes.
Treatment for Congenital adrenal hyperplasia (CAH)
- Medication: Hydrocortisone (replaces cortisol) and fludrocortisone (replaces aldosterone).
- Reconstructive Surgery: For females to reduce genital size.
- Specialists: Consult an endocrinologist, surgeon, plastic surgeon, or medical geneticist.
When to seek medical attention ?
Seek medical attention if CAH symptoms are suspected.