What genetic pattern is most commonly associated with congenital adrenal hyperplasia?

Congenital adrenal hyperplasia (CAH) is primarily linked to an autosomal recessive inheritance pattern. This means that for an individual to be affected by the condition, they must inherit two copies of the mutated gene, one from each parent. The most common form of CAH results from a deficiency in the enzyme 21-hydroxylase, which is encoded by the CYP21A2 gene. Since this gene is located on an autosome (non-sex chromosome), the disorder follows the autosomal recessive inheritance pattern.

When both parents are carriers of the mutated gene (not showing the disease themselves), there is a 25% chance with each pregnancy for the child to inherit both copies of the mutation and be affected by CAH. This explains why linking CAH to autosomal recessive inheritance is the most accurate description of its genetic pattern.

In contrast, other inheritance patterns mentioned, such as autosomal dominant or X-linked recessive, do not fit with the characteristics of CAH, as seen in the conditions typically associated with those patterns. Mitochondrial inheritance also does not apply, because it relates to genes located in the mitochondria, which are inherited only from the mother, and it does not describe CAH