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The molecular basis and genotype-phenotype correlations of congenital adrenal hyperplasia (CAH) in Anatolian population.
Dundar A, Bayramov R, Onal MG, Akkus M, Dogan ME, Kenanoglu S, Cerrah Gunes M, Kazimli U, Ozbek MN, Ercan O, Yildirim R, Celmeli G, Parlak M, Dundar I, Hatipoglu N, Unluhizarci K, Akalin H, Ozkul Y, Saatci C, Dundar M. Dundar A, et al. Mol Biol Rep. 2019 Aug;46(4):3677-3690. doi: 10.1007/s11033-019-04809-4. Epub 2019 Apr 20. Mol Biol Rep. 2019. PMID: 31006099
Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disorder due to presence of mutations in the genes involved in the metabolism of steroid hormones in adrenal gland. There are two main forms of CAH, classic form and non-classic form. While classic form …
Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disorder due to presence of mutations in the genes involved in the me …
Presentation, Diagnosis, and Follow-Up Characteristics of 17alpha-Hydroxylase Deficiency Cases with Exon 1-6 Deletion (Founder Mutation) in the CYP17A1Gene: 20-Year Single-Center Experience.
Dundar I, Akinci A, Camtosun E, Ciftci N, Kayas L. Dundar I, et al. Sex Dev. 2023;17(1):43-50. doi: 10.1159/000529158. Epub 2023 Jan 18. Sex Dev. 2023. PMID: 36652930
CONTEXT: 17alpha-Hydroxylase/17,20-lyase deficiency (17OHD) is characterized by decreased sex steroids and cortisol synthesis, as well as an increased mineralocorticoid effect. ...
CONTEXT: 17alpha-Hydroxylase/17,20-lyase deficiency (17OHD) is characterized by decreased sex steroids and cortisol synthesis, as wel …
Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.
Reisch N, Idkowiak J, Hughes BA, Ivison HE, Abdul-Rahman OA, Hendon LG, Olney AH, Nielsen S, Harrison R, Blair EM, Dhir V, Krone N, Shackleton CH, Arlt W. Reisch N, et al. J Clin Endocrinol Metab. 2013 Mar;98(3):E528-36. doi: 10.1210/jc.2012-3449. Epub 2013 Jan 30. J Clin Endocrinol Metab. 2013. PMID: 23365120 Free PMC article.
CONTEXT: Mutations in the electron donor enzyme P450 oxidoreductase (POR) result in congenital adrenal hyperplasia with apparent combined 17alpha-hydroxylase/17,20 lyase and 21-hydroxylase deficiencies, also termed P450 oxidoreductase deficiency (PORD). Major clinic …
CONTEXT: Mutations in the electron donor enzyme P450 oxidoreductase (POR) result in congenital adrenal hyperplasia with apparent combined 17 …
Endocrine profiles and cycle characteristics of infertile 17alpha-hydroxylase/17,20-lyase Deficiency Patients undergoing assisted Reproduction Treatment: a retrospective cohort study.
Pan P, Zheng L, Huang J, Chen X, Ni R, Zhang Q, Yang D, Li Y. Pan P, et al. J Ovarian Res. 2023 Jun 14;16(1):111. doi: 10.1186/s13048-023-01190-6. J Ovarian Res. 2023. PMID: 37316894 Free PMC article.
BACKGROUND: 17alpha-hydroxylase/17,20-lyase deficiency (17-OHD) is a rare form of congenital adrenal hyperplasia caused by CYP17A1 gene variants. ...
BACKGROUND: 17alpha-hydroxylase/17,20-lyase deficiency (17-OHD) is a rare form of congenital adrenal hyperplasia caused by CYP17A1 ge …
Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17alpha-hydroxylase/17,20-lyase deficiency.
Qiao J, Chen X, Zuo CL, Gu YY, Liu BL, Liang J, Lu YL, Tang JF, Wu YX, Chen MD, Chen JL, Wu WL, Song HD. Qiao J, et al. Clin Endocrinol (Oxf). 2010 Mar;72(3):312-9. doi: 10.1111/j.1365-2265.2009.03607.x. Epub 2009 Apr 17. Clin Endocrinol (Oxf). 2010. PMID: 19508587
OBJECTIVE: P450c17 deficiency (17alpha-hydroxylase/17,20-lyase deficiency, 17OHD) is a rare form of congenital adrenal hyperplasia caused by CYP17A1 gene mutations. ...CONCLUSION: Genotype-proven carriers of the CYP17A1 mutation who lack apparent clinical symptoms e …
OBJECTIVE: P450c17 deficiency (17alpha-hydroxylase/17,20-lyase deficiency, 17OHD) is a rare form of congenital adrenal hyperpl …
Diagnosis and management of congenital adrenal hyperplasia.
New MI. New MI. Annu Rev Med. 1998;49:311-28. doi: 10.1146/annurev.med.49.1.311. Annu Rev Med. 1998. PMID: 9509266
The enzymes most often affected are 21-hydroxylase, 11 beta-hydroxylase, and 3 beta-hydroxysteroid dehydrogenase, and less often, 17 alpha-hydroxylase/17, 20-lyase and cholesterol desmolase. Decreased production of cortisol results in increased pituitary secr …
The enzymes most often affected are 21-hydroxylase, 11 beta-hydroxylase, and 3 beta-hydroxysteroid dehydrogenase, and less often, 17 …
Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency.
Costa-Santos M, Kater CE, Auchus RJ; Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group. Costa-Santos M, et al. J Clin Endocrinol Metab. 2004 Jan;89(1):49-60. doi: 10.1210/jc.2003-031021. J Clin Endocrinol Metab. 2004. PMID: 14715827
The severity of hypertension, hypokalemia, 17-deoxysteroid excess, and sex steroid deficiency varied, even among patients with completely inactive CYP17 protein(s). Spontaneous sexual development occurred only in 46,XX females with partial deficiencies. We co …
The severity of hypertension, hypokalemia, 17-deoxysteroid excess, and sex steroid deficiency varied, even among patients with …
Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene.
Yang J, Cui B, Sun S, Shi T, Zheng S, Bi Y, Liu J, Zhao Y, Chen J, Ning G, Li X. Yang J, et al. J Clin Endocrinol Metab. 2006 Sep;91(9):3619-25. doi: 10.1210/jc.2005-2283. Epub 2006 Jun 13. J Clin Endocrinol Metab. 2006. PMID: 16772352
CONTEXT: P450c17 deficiency (17OHD), caused by mutation in CYP17A1 gene, is characterized by severe hypertension-hypokalemia, sexual infantilism in females, and pseudohermaphroditism in males. ...
CONTEXT: P450c17 deficiency (17OHD), caused by mutation in CYP17A1 gene, is characterized by severe hypertension-hypokalemia, sexual …
Two-step biochemical differential diagnosis of classic 21-hydroxylase deficiency and cytochrome P450 oxidoreductase deficiency in Japanese infants by GC-MS measurement of urinary pregnanetriolone/ tetrahydroxycortisone ratio and 11beta-hydroxyandrosterone.
Koyama Y, Homma K, Fukami M, Miwa M, Ikeda K, Ogata T, Hasegawa T, Murata M. Koyama Y, et al. Clin Chem. 2012 Apr;58(4):741-7. doi: 10.1373/clinchem.2011.173286. Epub 2012 Jan 24. Clin Chem. 2012. PMID: 22273564
BACKGROUND: The clinical differential diagnosis of classic 21-hydroxylase deficiency (C21OHD) and cytochrome P450 oxidoreductase deficiency (PORD) is sometimes difficult, because both deficiencies can have similar phenotypes and high blood concentrations of 1 …
BACKGROUND: The clinical differential diagnosis of classic 21-hydroxylase deficiency (C21OHD) and cytochrome P450 oxidoreductase d …