What is Congenital Adrenal Hyperplasia (CAH)?
Congenital Adrenal Hyperplasia (CAH) is a group of inherited disorders affecting the adrenal glands, which are responsible for producing cortisol, aldosterone, and androgens. The most common form of CAH is due to a deficiency in the enzyme 21-hydroxylase, which leads to an overproduction of androgens and underproduction of cortisol and aldosterone.
How does CAH affect females?
In females, the excess production of androgens can lead to virilization, characterized by ambiguous genitalia at birth, early pubarche, and hirsutism. In more severe cases, it can cause amenorrhea or irregular menstrual cycles, and may complicate infertility issues in adulthood.
Ambiguous genitalia at birth
Precocious puberty
Hirsutism (excessive body hair)
Severe acne
Irregular or absent menstrual periods
Infertility
How is CAH diagnosed?
Diagnosis of CAH typically involves a combination of clinical evaluation, hormonal assays, and genetic testing. Elevated levels of 17-hydroxyprogesterone are a key indicator. Newborn screening programs in many countries also include tests for CAH.
Glucocorticoids to replace cortisol
Mineralocorticoids to replace aldosterone, if needed
Anti-androgens to reduce the effects of excess androgens
Fertility treatments for those facing infertility issues
Surgical correction of ambiguous genitalia may also be considered, typically performed during infancy or childhood.
Monitor menstrual cycles and manage irregularities
Provide fertility counseling and treatment
Offer guidance on hormone replacement therapies
Collaborate with endocrinologists and genetic counselors
Maintaining hormonal balance to prevent adrenal crises and manage symptoms
Monitoring bone density, as long-term glucocorticoid use can affect bone health
Addressing psychological and social aspects, including body image and fertility concerns
Can CAH be prevented?
CAH is an inherited condition, so it cannot be prevented. However, genetic counseling can help at-risk couples understand their chances of having a child with CAH and discuss potential prenatal testing options.
