tie these two together for me … Congenital Adrenal Hyperplasia (CAH) is a genetic disorder

tie these two together for me … Congenital Adrenal Hyperplasia (CAH) is a genetic disorder passed down in families. It happens due to changes in certain genes that help make important enzymes in the adrenal glands (Tippabathani et al., 2023). One of these key genes is called 21-hydroxylase. In most cases (95%), CAH is caused by changes in a specific gene known as CYP21A2, which makes the 21-hydroxylase enzyme (Tippabathani et al., 2023). These symptoms are typical of a serious condition known as congenital adrenal hyperplasia (CAH), specifically the 21-hydroxylase deficiency. In simple terms, CAH is a hormonal disorder that newborns inherit. It affects the adrenal glands, located above the kidneys, preventing them from producing enough hormones that manage stress (cortisol) and regulate salt balance (aldosterone). As a result, these glands produce an excess of male hormones (androgens), which can lead to a baby girl being born with masculine features in her genitalia (Nath, 2022; Speiser et al., 2022). This issue arises due to a genetic mutation that blocks the action of the 21-hydroxylase enzyme, disrupting normal hormone production. Because cortisol and aldosterone are not being produced, the body compensates by increasing androgen levels. If this condition is not diagnosed and treated promptly, the resulting loss of salt and water can become life-threatening, as illustrated by this baby’s emergency visit.

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