CAIS stands for Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency, which is a genetic disorder that affects the production of hormones in the adrenal gland. It is a congenital condition, meaning it is present from birth, and is characterized by abnormalities in the production of cortisol and aldosterone. The lack of these hormones can lead to an overproduction of androgen, a type of male sex hormone, resulting in masculinization of the external genitalia in females.
CAIS is caused by a mutation in the CYP21A2 gene, which is responsible for encoding the enzyme 21-hydroxylase that is critical for the production of cortisol and aldosterone. The severity of the condition can vary, with some individuals displaying mild or no symptoms, while others may experience more significant effects. Symptoms may include ambiguous genitalia in females, delayed or absent puberty, infertility, and in some cases, adrenal crisis, a life-threatening condition caused by a sudden deficiency of cortisol.
Treatment for CAIS involves hormone replacement therapy to normalize hormone levels and manage the symptoms. This typically includes a combination of glucocorticoids, mineralocorticoids, and sometimes, hormone replacement therapy to induce the development of secondary sexual characteristics. Regular monitoring and medical management are required throughout an individual's life.
Overall, CAIS is a genetic disorder that affects the adrenal gland's hormone production, resulting in a variety of symptoms and requiring ongoing medical intervention to manage hormone levels.
