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Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. [ 1 ] [ 2 ] It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex . [ 3 ]
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency; Other names: 21-OH CAH: CT scan shows enlarged adrenals with masses consistent with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (image credit: NICHD/A. Mallappa, D. Merke) Specialty: Endocrinology Symptoms: Androgen excess and corticosteroid deficiencies: Frequency
It accounts for less than 5% of the cases of congenital adrenal hyperplasia and is inherited in an autosomal recessive manner with a reported incidence of about 1 in 1,000,000 births. [2] The most common forms of this condition impair both the 17α-hydroxylase activity and the 17,20-lyase activity of CYP17A1.
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is a form of congenital adrenal hyperplasia (CAH) which produces a higher than normal amount of androgen, [1] resulting from a defect in the gene encoding the enzyme steroid 11β-hydroxylase (11β-OH) which mediates the final step of cortisol synthesis in the adrenal. 11β-OH CAH results in hypertension due to excessive ...
Genetic variants in the CYP21A2 gene cause a disturbance in the development of the enzyme, leading to congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Gene conversion events involving the functional gene and the pseudogene account for many cases of steroid 21-hydroxylase deficiency. [64] CAH is an autosomal recessive ...
Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency is an uncommon form of congenital adrenal hyperplasia (CAH) resulting from a mutation in the gene for one of the key enzymes in cortisol synthesis by the adrenal gland, 3β-hydroxysteroid dehydrogenase (3β-HSD) type II ().
Late onset congenital adrenal hyperplasia (LOCAH), also known as nonclassic congenital adrenal hyperplasia (NCCAH or NCAH), is a milder form of congenital adrenal hyperplasia (CAH), [1] a group of autosomal recessive disorders characterized by impaired cortisol synthesis that leads to variable degrees of postnatal androgen excess.
Differential diagnosis of Adrenocorticotropic hormone deficiency includes Congenital adrenal hyperplasia, Addison's disease, and Secondary adrenal insufficiency. [ 1 ] Plasma ACTH levels when off glucocorticoid replacement therapy are the best parameter for differential diagnosis, as levels in primary adrenal insufficiency are generally above ...