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Novel genotype in two siblings with 5-α-reductase 2 deficiency: Different clinical course due to the time of diagnosis


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Mendonca BB, Domenice S, Arnhold IJ, Costa EM. 46,XY Disorders of sex development (DSD). Clin Endo-crinol (Oxf). 2009; 70(2): 173-187. Mendonca BB Domenice S Arnhold IJ Costa EM 46,XY Disorders of sex development (DSD) Clin Endo-crinol (Oxf) 2009 702 173 18710.1111/j.1365-2265.2007.02993.x-i1Search in Google Scholar

Hochberg Z, Chayen R, Reiss N, Falik Z, Makler A, Munichor M, et al. Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency. J Clin Endocrinol Metab. 1996; 81(8): 2821-2827. Hochberg Z Chayen R Reiss N Falik Z Makler A Munichor M Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency J Clin Endocrinol Metab 1996 818 2821 282710.1210/jcem.81.8.8768837Search in Google Scholar

Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, Fenichel P, et al. Phenotypical, biological, and molecular heterogeneity of 5 α-reductase deficiency: An extensive international experience of 55 patients. J Clin Endocrinol Metab. 2011; 96(2): 296-307. Maimoun L Philibert P Cammas B Audran F Bouchard P Fenichel P Phenotypical, biological, and molecular heterogeneity of 5 α-reductase deficiency: An extensive international experience of 55 patients J Clin Endocrinol Metab 2011 962 296 30710.1210/jc.2010-1024Search in Google Scholar

Andersson S, Berman DM, Jenkins EP, Russell DW. Deletion of steroid 5 α-reductase 2 gene in male pseudo-hermaphroditism. Nature. 1991; 354(6349): 159-161. Andersson S Berman DM Jenkins EP Russell DW Deletion of steroid 5 α-reductase 2 gene in male pseudo-hermaphroditism Nature 1991 3546349 159 16110.1038/354159a0Search in Google Scholar

Vilchis F, Ramos L, Mendez JP, Benavides S, Canto P, Chavez B. Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: The P212R substitution of the steroid 5 α-reductase 2 may constitute an ancestral founder mutation in Mexican patients. J Androl. 2010; 31(4): 358-364. Vilchis F Ramos L Mendez JP Benavides S Canto P Chavez B Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: The P212R substitution of the steroid 5 α-reductase 2 may constitute an ancestral founder mutation in Mexican patients J Androl 2010 314 358 36410.2164/jandrol.109.009407Search in Google Scholar

Imperato-McGinley J, Zhu YS. Androgens and male physiology the syndrome of 5 α-reductase-2 deficiency. Mol Cell Endocrinol. 2002; 198(1-2): 51-59. Imperato-McGinley J Zhu YS Androgens and male physiology the syndrome of 5 α-reductase-2 deficiency Mol Cell Endocrinol 2002 1981-2 51 5910.1016/S0303-7207(02)00368-4Search in Google Scholar

Sasaki G, Ogata T, Ishii T, Kosaki K, Sato S, Homma K, et al. Micropenis and the 5 α-reductase-2 (SR-D5A2) gene: Mutation and V89L polymorphism analysis in 81 Japanese patients. J Clin Endocrinol Metab. 2003; 88(7): 3431-3436. Sasaki G Ogata T Ishii T Kosaki K Sato S Homma K Micropenis and the 5 α-reductase-2 (SR-D5A2) gene: Mutation and V89L polymorphism analysis in 81 Japanese patients J Clin Endocrinol Metab 2003 887 3431 343610.1210/jc.2002-02141512843198Search in Google Scholar

Thigpen AE, Davis DL, Gautier T, Imperato-McGinley J, Russell DW. Brief report: The molecular basis of steroid 5 α-reductase deficiency in a large Dominican kindred. N Engl J Med. 1992; 327(17): 1216-1219. Thigpen AE Davis DL Gautier T Imperato-McGinley J Russell DW Brief report: The molecular basis of steroid 5 α-reductase deficiency in a large Dominican kindred N Engl J Med 1992 32717 1216 121910.1056/NEJM1992102232717061406794Search in Google Scholar

Alswailem MM, Alzahrani OS, Alghofaili L, Qasem E, Almohanaa M, Alsagheir A, et al. Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population. Endocrine. 2019; 63(2): 361-368. Alswailem MM Alzahrani OS Alghofaili L Qasem E Almohanaa M Alsagheir A Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population Endocrine 2019 632 361 36810.1007/s12020-018-1767-130269266Search in Google Scholar

M Selveindran N, Syed Zakaria SZ, Jalaludin MY, Rasat R. Quality of life in children with disorders of sex development. Horm Res Paediatr. 2017; 88(5): 324-330. M Selveindran N Syed ZakariaSZ Jalaludin MY Rasat R Quality of life in children with disorders of sex development Horm Res Paediatr 2017 885 324 33010.1159/00047878028965114Search in Google Scholar

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5): 405-424. Richards S Aziz N Bale S Bick D Das S Gastier-Foster J Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med 2015 175 405 42410.1038/gim.2015.30454475325741868Search in Google Scholar

Nicoletti A, Baldazzi L, Balsamo A, Barp L, Pirazzoli P, Gennari M, et al. SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects. Clin Endocrinol (Oxf). 2005; 63(4): 375-380. Nicoletti A Baldazzi L Balsamo A Barp L Pirazzoli P Gennari M SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects Clin Endocrinol (Oxf) 2005 634 375 38010.1111/j.1365-2265.2005.02348.x16181229Search in Google Scholar

Avendano A, Paradisi I, Cammarata-Scalisi F, Callea M. 5-α-Reductase type 2 deficiency: Is there a genotype-phenotype correlation? A review. Hormones (Athens). 2018; 17(2): 197-204. Avendano A Paradisi I Cammarata-Scalisi F Callea M 5-α-Reductase type 2 deficiency: Is there a genotype-phenotype correlation? A review Hormones (Athens) 2018 172 197 20410.1007/s42000-018-0013-9Search in Google Scholar

Andonova S, Robeva R, Vazharova R, Ledig S, Grozdanova L, Stefanova E, et al. New territory for an old disease: 5-α-reductase type 2 deficiency in Bulgaria. Sex Dev. 2017; 11(1): 21-28. Andonova S Robeva R Vazharova R Ledig S Grozdanova L Stefanova E New territory for an old disease: 5-α-reductase type 2 deficiency in Bulgaria Sex Dev 2017 111 21 2810.1159/000454974Search in Google Scholar

Perry RJ, Novikova E, Wallace AM, Donaldson MD. Pitfalls in the diagnosis of 5 α-reductase type 2 deficiency during early infancy. Horm Res Paediatr. 2011; 75(5): 380-382. Perry RJ Novikova E Wallace AM Donaldson MD Pitfalls in the diagnosis of 5 α-reductase type 2 deficiency during early infancy Horm Res Paediatr 2011 755 380 38210.1159/000324646Search in Google Scholar

Chan AO, But BW, Lee CY, Lam YY, Ng KL, Tung JY, et al. Diagnosis of 5 α-reductase 2 deficiency: Is measurement of dihydrotestosterone essential? Clin Chem. 2013; 59(5): 798-806. Chan AO But BW Lee CY Lam YY Ng KL Tung JY Diagnosis of 5 α-reductase 2 deficiency: Is measurement of dihydrotestosterone essential? Clin Chem 2013 595 798 80610.1373/clinchem.2012.196501Search in Google Scholar

Hackel C, Oliveira LE, Ferraz LF, Tonini MM, Silva DN, Toralles MB, et al. New mutations, hotspots, and founder effects in Brazilian patients with steroid 5 α-reductase deficiency type 2. J Mol Med (Berl). 2005; 83(7): 569-576. Hackel C Oliveira LE Ferraz LF Tonini MM Silva DN Toralles MB New mutations, hotspots, and founder effects in Brazilian patients with steroid 5 α-reductase deficiency type 2 J Mol Med (Berl) 2005 837 569 57610.1007/s00109-005-0651-7Search in Google Scholar

Karczewski K, Francioli L. The genome Aggregation Database (gnomAD). MacArthur Lab. 2017. https://macarthurlab.org/2017/02/27/the-genome-aggregation-database-gnomad Karczewski K Francioli L The genome Aggregation Database (gnomAD) MacArthur Lab 2017 https://macarthurlab.org/2017/02/27/the-genome-aggregation-database-gnomadSearch in Google Scholar

Silveri RI, Russell DW. 5 α-Reductase type 2 mutations are present in some boys with isolated hypospadias. J Urol. 1999; 162(3): 1142-1145. Silveri RI Russell DW 5 α-Reductase type 2 mutations are present in some boys with isolated hypospadias J Urol 1999 1623 1142 114510.1016/S0022-5347(01)68102-3Search in Google Scholar

Rahimi M, Ghanbari M, Fazeli Z, Rouzrokh M, Om-rani S, Mirfakhraie R, et al. Association of SRD5A2 gene mutations with risk of hypospadias in the Iranian population. J Endocrinol Invest. 2017; 40(4): 391-396. Rahimi M Ghanbari M Fazeli Z Rouzrokh M Om-rani S Mirfakhraie R Association of SRD5A2 gene mutations with risk of hypospadias in the Iranian population J Endocrinol Invest 2017 404 391 39610.1007/s40618-016-0573-y27848231Search in Google Scholar

Samtani R, Bajpai M, Ghosh P, Saraswathy K. SR-D5A2 gene mutations – A population-based review. Pediatr Endocrinol Rev. 2010; 8(1): 34-40. Samtani R Bajpai M Ghosh P Saraswathy K SR-D5A2 gene mutations – A population-based review Pediatr Endocrinol Rev 2010 81 34 40Search in Google Scholar

Fang C, Guo ZQ, Chen XY, Liu TZ, Zeng XT, Wang XH. Relationship between SRD5A2 rs9282858 polymorphism and the susceptibility of prostate cancer: A meta-analysis based on 20 publications. Medicine (Baltimore). 2017; 96(19): e6791. Fang C Guo ZQ Chen XY Liu TZ Zeng XT Wang XH Relationship between SRD5A2 rs9282858 polymorphism and the susceptibility of prostate cancer: A meta-analysis based on 20 publications Medicine (Baltimore) 2017 9619 e679110.1097/MD.0000000000006791542858828489754Search in Google Scholar

Pearce CL, van den Berg DJ, Makridakis N, Reichardt JK, Ross RK, Pike MC, et al. No association between the SRD5A2 gene A49T missense variant and prostate cancer risk: Lessons learned. Hum Mol Genet. 2008; 17(16): 2456-2461. Pearce CL van den BergDJ Makridakis N Reichardt JK Ross RK Pike MC No association between the SRD5A2 gene A49T missense variant and prostate cancer risk: Lessons learned Hum Mol Genet 2008 1716 2456 246110.1093/hmg/ddn145272288518469342Search in Google Scholar

Costa EM, Domenice S, Sircili MH, Inacio M, Mendonca BB. DSD due to 5 α-reductase 2 deficiency – From diagnosis to long term outcome. Semin Reprod Med. 2012; 30(5): 427-431. Costa EM Domenice S Sircili MH Inacio M Mendonca BB DSD due to 5 α-reductase 2 deficiency – From diagnosis to long term outcome Semin Reprod Med 2012 305 427 43110.1055/s-0032-132472723044880Search in Google Scholar

Byers HM, Mohnach LH, Fechner PY, Chen M, Thomas IH, Ramsdell LA, et al. Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-α reductase type 2 deficiency. Am J Med Genet C Semin Med Genet. 2017; 175(2): 260-267. Byers HM Mohnach LH Fechner PY Chen M Thomas IH Ramsdell LA Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-α reductase type 2 deficiency Am J Med Genet C Semin Med Genet 2017 1752 260 26710.1002/ajmg.c.31560548913028544750Search in Google Scholar

Houk CP, Lee PA. Consensus statement on terminology and management: Disorders of sex development. Sex Dev. 2008; 2(4-5): 172-180. Houk CP Lee PA Consensus statement on terminology and management: Disorders of sex development Sex Dev 2008 24-5 172 18010.1159/00015203218987491Search in Google Scholar

Wisniewski AB, Mazur T. 46,XY DSD with female or ambiguous external genitalia at birth due to androgen insensitivity syndrome, 5 α-reductase-2 deficiency, or 17 β-hydroxysteroid dehydrogenase deficiency: A review of quality of life outcomes. Int J Pediatr Endocrinol. 2009; 2009: 567430. Wisniewski AB Mazur T 46,XY DSD with female or ambiguous external genitalia at birth due to androgen insensitivity syndrome, 5 α-reductase-2 deficiency, or 17 β-hydroxysteroid dehydrogenase deficiency: A review of quality of life outcomes Int J Pediatr Endocrinol 2009 2009 56743010.1186/1687-9856-2009-567430Search in Google Scholar

Fenichel P, Paris F, Philibert P, Hieronimus S, Gaspari L, Kurzenne JY, et al. Molecular diagnosis of 5 α-reductase deficiency in 4 elite young female athletes through hormonal screening for hyperan-drogenism. J Clin Endocrinol Metab. 2013; 98(6): E1055-E1059. Fenichel P Paris F Philibert P Hieronimus S Gaspari L Kurzenne JY Molecular diagnosis of 5 α-reductase deficiency in 4 elite young female athletes through hormonal screening for hyperan-drogenism J Clin Endocrinol Metab 2013 986 E1055 E105910.1210/jc.2012-389323633205Search in Google Scholar

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