What is the prevalence of Congenital Adrenal Hyperplasia (CAH)?
How many people does Congenital Adrenal Hyperplasia (CAH) affect? Does it have the same prevalence in men and women? And in the different countries?
Congenital Adrenal Hyperplasia (CAH) is a relatively rare genetic disorder that affects the adrenal glands. It is estimated to occur in approximately 1 in every 10,000 to 18,000 live births worldwide. CAH is caused by mutations in genes involved in the production of cortisol, a hormone essential for regulating various bodily functions. The condition can lead to abnormal hormone levels, resulting in a range of symptoms including ambiguous genitalia in females, early puberty, and potential adrenal crisis. Early diagnosis and appropriate medical management are crucial for individuals with CAH to lead healthy lives.
Congenital Adrenal Hyperplasia (CAH) is a group of genetic disorders that affect the adrenal glands, leading to impaired hormone production. It is estimated that CAH occurs in approximately 1 in every 10,000 to 18,000 live births worldwide, making it a relatively rare condition.
CAH is more commonly observed in certain populations, such as individuals of Ashkenazi Jewish, Yupik Eskimo, or Yugoslav descent. The prevalence may vary among different ethnic groups due to specific genetic mutations associated with CAH.
CAH can manifest in different forms, with the most common being 21-hydroxylase deficiency, accounting for about 95% of cases. This form affects the production of cortisol and aldosterone hormones, leading to a range of symptoms including ambiguous genitalia in females, early puberty, and adrenal crises.
Early diagnosis and treatment are crucial in managing CAH and preventing complications. Newborn screening programs have been implemented in many countries to identify affected infants, allowing for timely intervention and hormone replacement therapy.
While CAH is a relatively rare condition, its impact on affected individuals and their families can be significant. Ongoing research and advancements in genetic testing contribute to a better understanding and management of this disorder.
Posted Jun 12, 2018 by Dena 3550
