ⓘ Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency

                                     

ⓘ Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency

Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of congenital adrenal hyperplasia resulting from a defect in the gene CYP17A1, which encodes for the enzyme 17α-hydroxylase. It causes decreased synthesis of cortisol and sex steroids, with resulting increase in mineralocorticoid production. Thus, common symptoms include mild hypocortisolism, ambiguous genitalia in genetic males or failure of the ovaries to function at puberty in genetic females, and hypokalemic hypertension. However, partial deficiency is notable for having inconsistent symptoms between patients, and affected genetic females may be wholly asymptomatic except for infertility.

                                     
  • Congenital adrenal hyperplasia due to 11β - hydroxylase deficiency Congenital adrenal hyperplasia due to 17α - hydroxylase deficiency Disorders of sex development
  • Congenital adrenal hyperplasia due to 11β - hydroxylase deficiency is a form of congenital adrenal hyperplasia CAH which produces a higher than normal
  • Congenital adrenal hyperplasia due to 21 - hydroxylase deficiency in all its forms, accounts for over 95 of diagnosed cases of congenital adrenal hyperplasia
  • adrenal hyperplasia due to 3β - hydroxysteroid dehydrogenase deficiency 17α - hydroxypregnenolone is increased, while in patients with congenital adrenal hyperplasia
  • Congenital adrenal hyperplasia due to 3β - hydroxysteroid dehydrogenase deficiency is an uncommon form of congenital adrenal hyperplasia CAH resulting
  • Lipoid congenital adrenal hyperplasia is an endocrine disorder that is an uncommon and potentially lethal form of congenital adrenal hyperplasia CAH
  • metabolite from 17α - hydroxyprogesterone via 11β - hydroxylase It is a marker of congenital adrenal hyperplasia due to 21 - hydroxylase deficiency The corticosteroid
  • the development of the enzyme, which leads to congenital adrenal hyperplasia due to 21 - hydroxylase deficiency A related pseudogene is located near this
  • synthesis problems, congenital adrenal hyperplasia is the most common in various forms: 21 - hydroxylase 17α - hydroxylase 11β - hydroxylase and 3β - hydroxysteroid