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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
The defects causing adrenal hyperplasia are congenital (i.e. present at birth). Steroidogenesis : The enzymes affected in CAH are represented by one red and four green bars on the top half of the diagram (for example, "21α-hydroxylase" is visible near the top center. "17α-hydroxylase" and "17,20 lyase" are carried out by a single enzyme). [ 29 ]
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.
Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of congenital adrenal hyperplasia (CAH) resulting from a mutation in the gene CYP17A1, which produces the enzyme 17α-hydroxylase. [1] [2] It causes decreased synthesis of cortisol and sex hormones, with resulting increase in mineralocorticoid production.
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 ...
In males, virilization may signal precocious puberty, while congenital adrenal hyperplasia and androgen producing tumors (usually) of the gonads or adrenals are occasional causes in both sexes. [ 3 ] In adolescent or adult females
Some national authorities, such as the UK Human Fertilization and Embryology Authority, maintain lists of conditions for which PGD is permissible, including intersex conditions such as 5 alpha reductase deficiency, androgen insensitivity syndrome, congenital adrenal hyperplasia and others. [5]
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 ().