17-Hydroxylase Deficiency - StatPearls - NCBI Bookshelf
2023年1月3日 · In particular, the 17-hydroxylase deficiency is a rare cause of CAH due to loss of function mutations in the CYP17A1 gene located on chromosome 10q24-q25. Typically these mutations result in the loss of function of both 17-hydroxylase and 17,20-lyase activities.
Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
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.
17-Hydroxylase Deficiency Syndrome - Medscape
2025年1月28日 · 17-Hydroxylase (17-OH) deficiency syndrome is a rare genetic disorder of steroid biosynthesis that causes decreased production of glucocorticoids and sex steroids by the adrenal glands and...
17 alpha-hydroxylase/17,20-lyase deficiency - MedlinePlus
17 alpha(α)-hydroxylase/17,20-lyase deficiency is a condition that affects the function of certain hormone-producing glands called the gonads ( ovaries in females and testes in males) and the adrenal glands. Explore symptoms, inheritance, genetics of this condition.
Diagnosis of 17-alpha hydroxylase deficiency performed late in …
17-alpha-hydroxylase deficiency (17OHD) is a rare autosomal recessive disorder caused by mutations in the CYP17A1 gene, with an estimated incidence of 1 in 50 000, accounting for only 1% of congenital adrenal hyperplasia (CAH) (4).
17α-hydroxylase/17,20-lyase deficiency in congenital adrenal ...
17α-hydroxylase/17,20-lyase deficiency is caused by mutations in the cytochrome P450 family 17 subfamily A member 1 (CYP17A1) gene, and is associated with the impaired production of cortisol and sex steroids (5).
17-Hydroxylase Deficiency Syndrome Treatment & Management - Medscape
2025年1月28日 · 17-hydroxylase (17-OH) deficiency syndrome is a rare genetic disorder of steroid biosynthesis that causes decreased production of glucocorticoids and sex steroids and increased synthesis...
C-17 Hydroxylase Deficiency: Practice Essentials ... - Medscape
2023年2月24日 · Patients with 17-hydroxylase deficiency typically have impairments of 17-alpha-hydroxylase and 17,20-lyase activity. However, cases of isolated 17,20-lyase deficiency have...
17-Hydroxylase Deficiency - PubMed
2023年1月3日 · In general, the 17-hydroxylase deficiency expresses as sexual infantilism in 46XX women and ambiguous genitalia in 46XY men. This activity will focus on the etiology, epidemiology, and clinical features of this rare genetic disorder.
17-Alpha-Hydroxylase Deficiency - SpringerLink
2023年2月16日 · 17 alpha-hydroxylase deficiency (17-OHD) is an autosomal recessive disease caused by a mutation in the CYP17A1 gene located on chromosome 10q24.3, which leads to a disturbance in cytochrome p-450 enzyme activity.