Summary about Disease
Non-classic congenital adrenal hyperplasia (NCCAH), also known as late-onset or attenuated CAH, is a milder form of congenital adrenal hyperplasia (CAH). It's a genetic disorder affecting the adrenal glands, leading to a partial deficiency of an enzyme needed to produce certain hormones, primarily cortisol. The most common cause is a deficiency of the 21-hydroxylase enzyme. This deficiency results in an overproduction of androgens (male sex hormones). Unlike classic CAH, individuals with NCCAH often don't show symptoms until later in childhood or even adulthood.
Symptoms
Symptoms can vary greatly in severity and may include:
Females:
Early or premature pubic hair and/or armpit hair
Acne
Irregular menstrual cycles or absence of menstruation (amenorrhea)
Infertility
Hirsutism (excessive hair growth on the face, chest, and back)
Deepening of the voice
Increased muscle mass
Males:
Early or premature pubic hair and/or armpit hair
Acne
Early growth spurt but normal adult height
Both Sexes:
Advanced bone age
Adults may experience decreased fertility.
Causes
NCCAH is caused by genetic mutations in the CYP21A2 gene. This gene provides instructions for making the 21-hydroxylase enzyme, which is crucial for producing cortisol and aldosterone in the adrenal glands. The mutations in NCCAH typically result in a partial enzyme deficiency, unlike the severe deficiency seen in classic CAH. NCCAH is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.
Medicine Used
4. Medicine used Treatment for NCCAH isn't always necessary, especially if symptoms are mild. When treatment is needed, the primary medication is:
Glucocorticoids: Low doses of glucocorticoids (like hydrocortisone, prednisone, or dexamethasone) are used to suppress the overproduction of androgens by the adrenal glands. The dosage is carefully monitored to avoid side effects, especially growth suppression in children.
Oral Contraceptives: For women, oral contraceptives can help regulate menstrual cycles and reduce hirsutism and acne.
Anti-androgens: Spironolactone is sometimes prescribed to reduce androgen levels and alleviate symptoms like hirsutism and acne in women.
Is Communicable
NCCAH is not communicable. It is a genetic disorder and cannot be spread from person to person.
Precautions
There are no specific precautions to prevent NCCAH as it is a genetic condition. However, if you have a family history of CAH, genetic counseling is recommended if you are planning a pregnancy. This counseling can help you understand the risk of having a child with CAH and discuss available testing options. People with NCCAH should work closely with their healthcare provider to manage symptoms and monitor for potential side effects of medications.
How long does an outbreak last?
NCCAH is not an infection, so the term "outbreak" is not applicable. NCCAH is a chronic condition, meaning it is long-lasting. Symptoms may fluctuate in severity, but the underlying genetic condition persists throughout life. Proper management with medication can effectively control symptoms.
How is it diagnosed?
Diagnosis typically involves:
Physical Examination: Evaluation of symptoms such as early pubic hair, acne, or hirsutism.
Blood Tests: Measuring hormone levels, including 17-hydroxyprogesterone (17-OHP), androgens (like testosterone and DHEA-S), and cortisol. A cosyntropin (ACTH) stimulation test is often performed to evaluate the adrenal glands' response to ACTH. In NCCAH, the 17-OHP level typically rises higher than normal after ACTH stimulation, but not as high as in classic CAH.
Genetic Testing: Analyzing the CYP21A2 gene to identify mutations. Genetic testing can confirm the diagnosis and determine the specific mutation(s) present.
Timeline of Symptoms
The onset and progression of symptoms in NCCAH are variable:
Infancy/Childhood: Some individuals may develop early signs such as premature pubic hair growth.
Adolescence: Symptoms like acne, hirsutism, and menstrual irregularities may become more apparent.
Adulthood: Some individuals may not experience noticeable symptoms until adulthood when they encounter fertility problems or other hormone-related issues. The timeline is highly individual, and some people with NCCAH may remain asymptomatic throughout their lives.
Important Considerations
Diagnosis: Accurate diagnosis is crucial to differentiate NCCAH from other conditions with similar symptoms, such as polycystic ovary syndrome (PCOS) in women.
Treatment: Treatment decisions should be individualized based on the severity of symptoms and the individual's goals. Not everyone with NCCAH requires treatment.
Monitoring: Regular monitoring by a healthcare provider is important to assess the effectiveness of treatment and manage any potential side effects of medications.
Fertility: Women with NCCAH may experience fertility problems. Treatment with glucocorticoids or other medications can often improve fertility.
Genetic Counseling: Genetic counseling is recommended for individuals with NCCAH who are considering having children to understand the risk of passing the condition on to their offspring.