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Page 1
Disorders of steroid 11 beta-hydroxylase isozymes.
White PC, Curnow KM, Pascoe L. White PC, et al. Endocr Rev. 1994 Aug;15(4):421-38. doi: 10.1210/edrv-15-4-421. Endocr Rev. 1994. PMID: 7988480 Review.
In addition to 11 beta-hydroxylase activity, the latter enzyme has 18-hydroxylase and 18-oxidase activities and thus can synthesize aldosterone from deoxycorticosterone. Insights into the normal functioning of these enzymes are gained from studies of disorder …
In addition to 11 beta-hydroxylase activity, the latter enzyme has 18-hydroxylase and 18-oxidase activities and thus ca …
Congenital adrenal hyperplasia.
Pang S. Pang S. Baillieres Clin Obstet Gynaecol. 1997 Jun;11(2):281-306. doi: 10.1016/s0950-3552(97)80038-7. Baillieres Clin Obstet Gynaecol. 1997. PMID: 9536212 Review.
Postnatal onset hyperandrogenic symptoms such as premature pubarche, clitoromegaly, hirsutism, menstrual disorders and infertility are well known manifestations of CAH due to 21-hydroxylase deficiency, 3 beta-hydroxysteroid dehydrogenase deficiency or 11 b …
Postnatal onset hyperandrogenic symptoms such as premature pubarche, clitoromegaly, hirsutism, menstrual disorders and infertility are well …
Steroid 11 beta-hydroxylase deficiency and related disorders.
White PC, Speiser PW. White PC, et al. Endocrinol Metab Clin North Am. 1994 Jun;23(2):325-39. Endocrinol Metab Clin North Am. 1994. PMID: 8070425 Review.
Steroid 11 beta-hydroxylase deficiency is the second most frequent cause of congenital adrenal hyperplasia, the inherited inability to synthesize cortisol. ...
Steroid 11 beta-hydroxylase deficiency is the second most frequent cause of congenital adrenal hyperplasi …
Steroid 11 beta-hydroxylase deficiency and related disorders.
White PC. White PC. Endocrinol Metab Clin North Am. 2001 Mar;30(1):61-79, vi. doi: 10.1016/s0889-8529(08)70019-7. Endocrinol Metab Clin North Am. 2001. PMID: 11344939 Review.
Three disorders result from mutations involving two closely linked 11 beta-hydroxylase genes. Steroid 11 beta-hydroxylase deficiency results from mutations in CYP11B1. This is a form of congenital adrenal hyperplasia (CAH) c …
Three disorders result from mutations involving two closely linked 11 beta-hydroxylase genes. Steroid 11 …
Genetics of congenital adrenal hyperplasia.
Krone N, Arlt W. Krone N, et al. Best Pract Res Clin Endocrinol Metab. 2009 Apr;23(2):181-92. doi: 10.1016/j.beem.2008.10.014. Best Pract Res Clin Endocrinol Metab. 2009. PMID: 19500762 Free PMC article. Review.
The biochemical and clinical phenotype depends on the specific enzymatic defect and the impairment of specific enzyme activity. Defects of steroid 21-hydroxylase (CYP21A2) and 11beta-hydroxylase (CYP11B1) only affect adrenal steroidogenesis, whereas 17alpha-hydroxylase (CY …
The biochemical and clinical phenotype depends on the specific enzymatic defect and the impairment of specific enzyme activity. Defects of …
Non-classic congenital adrenal hyperplasia.
Kelestimur F. Kelestimur F. Pediatr Endocrinol Rev. 2006 Aug;3 Suppl 3:451-4. Pediatr Endocrinol Rev. 2006. PMID: 17551465 Review.
Non-classical ( NCAH) forms are characterized by milder enzyme dysfunction and manifests commonly in adolescence or adulthood. The most common form of NCAH is 21 hydroxylase (21-OH) deficiency. Also, a number of NCAH patients with 11 beta hydroxylase ( …
Non-classical ( NCAH) forms are characterized by milder enzyme dysfunction and manifests commonly in adolescence or adulthood. The most comm …
Clinical perspectives in congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Bulsari K, Falhammar H. Bulsari K, et al. Endocrine. 2017 Jan;55(1):19-36. doi: 10.1007/s12020-016-1189-x. Epub 2016 Dec 7. Endocrine. 2017. PMID: 27928728 Review.
Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is a rare autosomal recessive genetic disorder. ...This review article aims to collate the current available data about 11 beta-hydroxylase deficiency and …
Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is a rare autosomal recessive genetic disor …
Disorders of steroid 17 alpha-hydroxylase deficiency.
Kater CE, Biglieri EG. Kater CE, et al. Endocrinol Metab Clin North Am. 1994 Jun;23(2):341-57. Endocrinol Metab Clin North Am. 1994. PMID: 8070426 Review.
The human P450c17 alpha gene (CYP17) is a single copy gene located in chromosome 10, consisting of 8 exons and 7 introns. 17 alpha-Hydroxylase/17,20-lyase deficiency is one of two hypertensive forms of congenital adrenal hyperplasia and is inherited as an autosomal recessi …
The human P450c17 alpha gene (CYP17) is a single copy gene located in chromosome 10, consisting of 8 exons and 7 introns. 17 alpha-Hydroxyla …
Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies.
Peter M, Dubuis JM, Sippell WG. Peter M, et al. Horm Res. 1999;51(5):211-22. doi: 10.1159/000023374. Horm Res. 1999. PMID: 10559665 Review.
In infants with congenital hypoaldosteronism, a comparable frequency of 18-hydroxylase deficiency (aldosterone synthase deficiency type I) and of 18-oxidase deficiency (aldosterone synthase deficiency type II) can be found. Molecular genetic studies of …
In infants with congenital hypoaldosteronism, a comparable frequency of 18-hydroxylase deficiency (aldosterone synthase deficiency …
60 results