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Feb 26, 2002 · 21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired synthesis of cortisol from cholesterol by the adrenal cortex. In 21-OHD CAH, excessive adrenal androgen biosynthesis results in virilization in all individuals and salt wasting in some individuals. A classic form with severe enzyme ...
May 17, 2021 · Congenital adrenal hyperplasia (CAH), refers to a group of genetic disorders that affect the adrenal glands, which sit atop the kidneys and release hormones the body needs to function. CAH creates imbalances in these hormones, which cause a wide range of symptoms in infants, children, and adults.
Sep 19, 2018 · Growing individuals with classic congenital adrenal hyperplasia should receive maintenance therapy with hydrocortisone and should avoid chronic use of more potent or long-acting glucocorticoids, which can have adverse side effects. Patients with congenital adrenal hyperplasia (and parents of minors) should seek mental health treatment to ...
CAH can be categorized as classic or nonclassic types based on severity: Classic CAH is more severe than the nonclassic form. It can be life threatening in newborns if it is not diagnosed. Classic CAH can be caused by either 21-hydroxylase or 11-hydroxylase deficiency. Nonclassic CAH is sometimes called late-onset CAH. It is a milder form of ...
Apr 26, 2023 · Clinical CAH phenotypes are characterized by decreased cortisol synthesis and increased androgen secretion and depend on both the age at presentation and the severity of the CYP21A2 mutation. Hence, CAH cases can be divided into three categories : (a) Salt-wasting (SW) represents 65–75% of the classic CAH cases. These are manifested in ...
Aug 4, 2017 · Congenital adrenal hyperplasia (CAH) is a group of hereditary disorders that affect the adrenal glands. The adrenal glands produce the hormones cortisol and aldosterone. CAH is caused by genetic ...
May 10, 2024 · The term congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders, each of which involves a deficiency of an enzyme involved in the synthesis of cortisol, [ 1, 2] aldosterone, or both. Deficiency of 21-hydroxylase, resulting from mutations or deletions of CYP21A, is the most common form of CAH, accounting for ...
