Summary about Disease
Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that affect the adrenal glands. These glands are responsible for producing essential hormones, including cortisol, aldosterone, and androgens. In CAH, the adrenal glands can't produce enough cortisol, and sometimes aldosterone, leading to an overproduction of androgens. The most common cause is a deficiency in the enzyme 21-hydroxylase. CAH can cause a variety of symptoms depending on the severity and type.
Symptoms
Symptoms of CAH vary depending on the type and severity.
Classic CAH (More severe):
Females: Ambiguous genitalia at birth (enlarged clitoris, fused labia), rapid growth in childhood, early puberty, irregular or absent periods, infertility.
Males: Often appear normal at birth but may have enlarged penis, rapid growth in childhood, early puberty.
Both Sexes: Salt-wasting crisis (vomiting, dehydration, low blood pressure, low sodium, high potassium), which can be life-threatening.
Non-Classic CAH (Milder):
Acne, early puberty, rapid growth, irregular menstrual cycles, hirsutism (excessive hair growth), infertility.
Causes
CAH is caused by genetic mutations that affect enzymes involved in adrenal hormone production. The most common cause (over 90% of cases) is a mutation in the CYP21A2 gene, which leads to 21-hydroxylase deficiency. It's an autosomal recessive disorder, meaning both parents must carry a copy of the mutated gene for their child to be affected.
Medicine Used
The primary treatment for CAH involves hormone replacement therapy.
Glucocorticoids (e.g., hydrocortisone, prednisone, dexamethasone): Replace cortisol and suppress excess androgen production. Dosage is carefully managed to balance hormone levels and minimize side effects.
Mineralocorticoids (e.g., fludrocortisone): Replace aldosterone in individuals with salt-wasting CAH.
Sodium Chloride Supplementation: Infants with salt-wasting CAH may require additional sodium chloride supplementation.
Is Communicable
No, CAH is not communicable. It is a genetic disorder and cannot be spread from person to person.
Precautions
Medical Alert: Individuals with CAH should wear a medical alert bracelet or carry identification indicating their condition and the need for steroid medication, especially in emergencies.
Stress Management: During times of stress (illness, injury, surgery), the body requires more cortisol. Steroid dosage needs to be increased during these times, as directed by a doctor.
Regular Monitoring: Regular check-ups with an endocrinologist are essential to monitor hormone levels, growth, and development, and to adjust medication dosages as needed.
Genetic Counseling: Genetic counseling is recommended for individuals with CAH and their families to understand the inheritance pattern and recurrence risk.
How long does an outbreak last?
CAH is not an outbreak, it is a lifelong genetic condition. Symptoms related to hormonal imbalances can fluctuate and require continuous management.
How is it diagnosed?
Newborn Screening: Most states include CAH in their newborn screening programs, which involves a blood test to measure 17-hydroxyprogesterone (17-OHP) levels. Elevated levels may indicate CAH.
Blood Tests: Measure hormone levels, including 17-OHP, cortisol, aldosterone, and androgens.
Genetic Testing: Confirms the diagnosis by identifying mutations in the CYP21A2 gene or other genes associated with CAH.
Prenatal Diagnosis: Chorionic villus sampling (CVS) or amniocentesis can be used to diagnose CAH in utero.
Timeline of Symptoms
Classic CAH:
At birth: Ambiguous genitalia in females, possible salt-wasting crisis in both sexes.
Childhood: Rapid growth, early puberty.
Adulthood: Irregular periods, infertility.
Non-Classic CAH:
Childhood or Adolescence: Acne, hirsutism, irregular periods, early puberty, rapid growth.
Important Considerations
Adrenal Crisis: A potentially life-threatening situation caused by severe cortisol deficiency. It can be triggered by stress, illness, or injury. Symptoms include vomiting, dehydration, low blood pressure, and shock. Immediate medical attention is required, including intravenous fluids and steroid injection.
Medication Adherence: Consistent adherence to hormone replacement therapy is crucial for managing CAH and preventing complications.
Psychological Support: Individuals with CAH, especially those with ambiguous genitalia, may benefit from psychological support to address body image concerns and promote emotional well-being.
Fertility: CAH can affect fertility in both males and females. However, with proper management, many individuals with CAH can conceive.
Long-Term Effects of Treatment: Long-term use of glucocorticoids can have side effects, such as weight gain, osteoporosis, and increased risk of diabetes. Regular monitoring and adjustments to medication dosage are essential to minimize these risks.