What is Classical Congenital Adrenal Hyperplasia (CAH)?
Classical Congenital Adrenal Hyperplasia (CAH) is an inherited disorder affecting the adrenal glands, which are responsible for producing vital hormones like cortisol and aldosterone. The condition is characterized by a deficiency in one of the enzymes needed for cortisol production. The most common enzyme deficiency in classical CAH is 21-hydroxylase.
How does CAH affect female reproductive health?
In females, classical CAH can lead to ambiguous genitalia at birth, menstrual irregularities, and complications in fertility. The excess production of androgens (male hormones) can disrupt the normal development of female genitalia, causing virilization. This may necessitate surgical intervention to correct genital ambiguity.
Ambiguous genitalia
Early onset of puberty
Hirsutism (excessive hair growth)
Severe acne
Menstrual irregularities
Infertility
How is CAH diagnosed?
Diagnosis typically involves a combination of clinical evaluation, hormonal assays, and genetic testing. Newborn screening programs often detect elevated levels of 17-hydroxyprogesterone, prompting further investigation. Confirmatory tests may include ACTH stimulation tests and genetic analysis of the CYP21A2 gene.
Glucocorticoid therapy: To replace deficient cortisol and suppress excess androgen production.
Mineralocorticoid therapy: For those with aldosterone deficiency, to maintain salt balance and blood pressure.
Surgical interventions: To correct ambiguous genitalia, usually performed in infancy or early childhood.
Fertility treatments: For those experiencing infertility due to CAH, options may include ovulation induction and assisted reproductive technologies.
What are the long-term complications of CAH?
Long-term complications can include chronic adrenal insufficiency, metabolic abnormalities, and psychological issues. Regular follow-up with a multidisciplinary team, including endocrinologists and gynecologists, is essential to monitor and manage these complications effectively.
Adjusting glucocorticoid doses to prevent adrenal crises.
Monitoring for hypertensive disorders of pregnancy.
Genetic counseling to understand the risk of passing CAH to offspring.
Counseling and psychological support: To address issues related to gender identity, body image, and fertility concerns.
Support groups: Providing a community for sharing experiences and coping strategies.
Educational resources: To help patients and families understand the condition and its management.
Are there any preventive measures for CAH?
Currently, there are no preventive measures for CAH as it is a genetic condition. However, genetic counseling can provide valuable information for prospective parents with a family history of CAH. Prenatal diagnosis and early treatment initiation can significantly improve outcomes.
