Congenital Adrenal Hyperplasia and Growth Outcomes
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Congenital adrenal hyperplasia (CAH) is a disorder of adrenal gland cortisol biosynthesis caused by key enzyme deficiencies, the most common being 21-hydroxylase in 90–95% cases . Depending on the severity, there are two forms of CAH: classical (a severe enzymatic deficiency with onset in the neonatal period, infancy or childhood) and non-classical (a milder form manifesting in later life). Classical forms are further classified into salt-wasting (SW) (associated with mineralocorticoid deficiency and adrenal crisis) and simple-virilizing (SV) (normal/subclinical mineralocorticoid deficiency) types. The lack of cortisol stimulates pituitary adreno corticotropic hormone (ACTH) release that leads to adrenal hyperplasia and accumulation of cortisol precursors like 17-hydroxyprogesterone (17-OHP), which are shunted to the alternate metabolic pathway of androgen synthesis. High levels of androgens and testosterone manifest as genital virilization in girls and pseudo-precocious puberty in...
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