Primary amenorrhoea with hypertension: undiagnosed 17‐α‐hydroxylase deficiency
2013; Wiley; Volume: 199; Issue: 8 Linguagem: Inglês
10.5694/mja12.11619
ISSN1326-5377
AutoresFiona L. Britten, Kimberly B. Ulett, Emma L. Duncan, Donald A. Perry‐Keene,
Tópico(s)Hormonal Regulation and Hypertension
ResumoMedical Journal of AustraliaVolume 199, Issue 8 p. 556-558 Case report Primary amenorrhoea with hypertension: undiagnosed 17-α-hydroxylase deficiency Fiona L Britten MB BS, BA/BSc, Corresponding Author Fiona L Britten MB BS, BA/BSc Advanced Trainee in Endocrinology [email protected] Royal Brisbane and Women's Hospital, Brisbane, QLD.Correspondence: [email protected]Search for more papers by this authorKimberly B Ulett MD, Kimberly B Ulett MD Advanced Trainee in General Medicine and Infectious Diseases Royal Brisbane and Women's Hospital, Brisbane, QLD.Search for more papers by this authorEmma L Duncan FRACP, PhD, LMusA, Emma L Duncan FRACP, PhD, LMusA Endocrinologist Royal Brisbane and Women's Hospital, Brisbane, QLD.Search for more papers by this authorDonald A Perry-Keene MB BS(Hons), FRACP, Donald A Perry-Keene MB BS(Hons), FRACP Endocrinologist Royal Brisbane and Women's Hospital, Brisbane, QLD.Search for more papers by this author Fiona L Britten MB BS, BA/BSc, Corresponding Author Fiona L Britten MB BS, BA/BSc Advanced Trainee in Endocrinology [email protected] Royal Brisbane and Women's Hospital, Brisbane, QLD.Correspondence: [email protected]Search for more papers by this authorKimberly B Ulett MD, Kimberly B Ulett MD Advanced Trainee in General Medicine and Infectious Diseases Royal Brisbane and Women's Hospital, Brisbane, QLD.Search for more papers by this authorEmma L Duncan FRACP, PhD, LMusA, Emma L Duncan FRACP, PhD, LMusA Endocrinologist Royal Brisbane and Women's Hospital, Brisbane, QLD.Search for more papers by this authorDonald A Perry-Keene MB BS(Hons), FRACP, Donald A Perry-Keene MB BS(Hons), FRACP Endocrinologist Royal Brisbane and Women's Hospital, Brisbane, QLD.Search for more papers by this author First published: 21 October 2013 https://doi.org/10.5694/mja12.11619Citations: 7Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1Cameron FJ, Montalto J, Yong AB, Warne GL. Steroid 17alpha-hydroxylase deficiency: first Australian case report. J Paediatr Child Health 1997; 33: 259–261. 10.1111/j.1440-1754.1997.tb01593.x CASPubMedWeb of Science®Google Scholar 2Takeda Y, Yoneda T, Demura M, et al. Genetic analysis of the cytochrome P-450c17alpha (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17alpha-hydroxylase deficiency. Clin Endocrinol (Oxf) 2001; 54: 751–758. 10.1046/j.1365-2265.2001.01272.x CASPubMedWeb of Science®Google Scholar 3Kater CE. The 17-alpha and 11-beta hydroxylase deficiency forms of congenital adrenal hyperplasia. Presentation at ENDO 2011 (The Endocrine Society's 93rd Annual Meeting); 2011 Jun 4-7; Boston, USA. Google Scholar 4 Human Gene Mutation Database [internet database]. Institute of Medical Genetics, Cardiff University. http://www.hgmd.cf.ac.uk/ac/index.php (accessed Sep 2012). Google Scholar 5Imai T, Yanase T, Waterman MR, et al. Canadian Mennonites and individuals residing in the Friesland region of The Netherlands share the same molecular basis of 17 alpha-hydroxylase deficiency. Hum Genet 1992; 89: 95–96. 10.1007/BF00207050 CASPubMedWeb of Science®Google Scholar 6Miura K, Yasuda K, Yanase T, et al. Mutation of cytochrome P-45017 alpha gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17. J Clin Endocrinol Metab 1996; 81: 3797–3801. 10.1210/jc.81.10.3797 CASPubMedWeb of Science®Google Scholar 7Costa-Santos M, Kater CE, Auchus RJ; Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group. Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J Clin Endocrinol Metab 2004; 89: 49–60. 10.1210/jc.2003-031021 CASPubMedWeb of Science®Google Scholar 8Jones KL, Freidenberg GR, Buchta R, Derenoncourt A. Male pseudohermaphroditism resulting from 17 alpha-monooxygenase (P-450C17) deficiency in two unrelated Guamanians. Am J Dis Child 1992; 146: 592–595. CASPubMedGoogle Scholar 9Yang J, Cui B, Sun S, et al. Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene. J Clin Endocrinol Metab 2006; 91: 3619–3625. 10.1210/jc.2005-2283 CASPubMedWeb of Science®Google Scholar 10Wei JQ, Wei JL, Li WC, et al. Genotyping of five Chinese patients with 17alpha-hydroxylase deficiency diagnosed through high-performance liquid chromatography serum adrenal profile: identification of two novel CYP17 mutations. J Clin Endocrinol Metab 2006; 91: 3647–3653. 10.1210/jc.2006-0153 CASPubMedWeb of Science®Google Scholar 11Bao X, Ding H, Xu Y, et al. Prevalence of common mutations in the CYP17A1 gene in Chinese Han population. Clin Chim Acta 2011; 412: 1240–1243. 10.1016/j.cca.2011.03.019 CASPubMedWeb of Science®Google Scholar 12Wang W, Fu JF, Gong FQ, et al. Rare hypertension as a result of 17alpha-hydroxylase deficiency. J Pediatr Endocrinol Metab 2011; 24: 333–337. 10.1515/jpem.2011.008 CASPubMedWeb of Science®Google Scholar 13Wang YP, Li J, Li JX, et al. Three novel CYP17A1 gene mutations (A82D, R125X, and C442R) found in combined 17-hydroxylase/17,20-lyase deficiency. Metabolism 2011; 60: 1386–1391. 10.1016/j.metabol.2011.03.008 CASPubMedWeb of Science®Google Scholar 14New MI. Male pseudohermaphroditism due to 17 alpha-hydroxylase deficiency. J Clin Invest 1970; 49: 1930–1941. 10.1172/JCI106412 CASPubMedWeb of Science®Google Scholar 15Auchus RJ. The genetics, pathophysiology, and management of human deficiencies of P450c17. Endocrinol Metab Clin North Am 2001; 30: 101-119, vii. 10.1016/S0889-8529(08)70021-5 CASPubMedWeb of Science®Google Scholar Citing Literature Volume199, Issue8October 2013Pages 556-558 ReferencesRelatedInformation
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