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163 related items for PubMed ID: 35607271

  • 1. Validation of steroid ratios for random urine by mass spectrometry to detect 5α-reductase deficiency in Vietnamese children.
    Tran TCM, Tran TNA, Le HBN, Nguyen VH, Tran MD, Vu CD, Greaves RF.
    Clin Chem Lab Med; 2022 Jul 26; 60(8):1225-1233. PubMed ID: 35607271
    [Abstract] [Full Text] [Related]

  • 2. Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic.
    Berra M, Williams EL, Muroni B, Creighton SM, Honour JW, Rumsby G, Conway GS.
    Eur J Endocrinol; 2011 Jun 26; 164(6):1019-25. PubMed ID: 21402750
    [Abstract] [Full Text] [Related]

  • 3. New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients.
    Gui B, Song Y, Su Z, Luo FH, Chen L, Wang X, Chen R, Yang Y, Wang J, Zhao X, Fan L, Liu X, Wang Y, Chen S, Gong C.
    J Med Genet; 2019 Oct 26; 56(10):685-692. PubMed ID: 31186340
    [Abstract] [Full Text] [Related]

  • 4. Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5α-reductase type 2 deficiency.
    Sasaki G, Ishii T, Hori N, Amano N, Homma K, Sato S, Hasegawa T.
    Endocr J; 2019 Sep 28; 66(9):837-842. PubMed ID: 31178538
    [Abstract] [Full Text] [Related]

  • 5. Diagnosis of 5α-reductase 2 deficiency: is measurement of dihydrotestosterone essential?
    Chan AO, But BW, Lee CY, Lam YY, Ng KL, Tung JY, Kwan EY, Chan YK, Tsui TK, Lam AL, Tse WY, Cheung PT, Shek CC.
    Clin Chem; 2013 May 28; 59(5):798-806. PubMed ID: 23513070
    [Abstract] [Full Text] [Related]

  • 6. Gas chromatography-mass spectrometry profiling of steroids in urine of patients with acute intermittent porphyria.
    Casals G, Marcos J, Pozo ÓJ, Aguilera P, Herrero C, To-Figueras J.
    Clin Biochem; 2013 Jun 28; 46(9):819-24. PubMed ID: 23499585
    [Abstract] [Full Text] [Related]

  • 7. Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population.
    Han B, Cheng T, Zhu H, Yu J, Zhu WJ, Song HD, Yao H, Qiao J.
    Biomed Res Int; 2020 Jun 28; 2020():1789514. PubMed ID: 32596280
    [Abstract] [Full Text] [Related]

  • 8. Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency.
    Cheng T, Wang H, Han B, Zhu H, Yao HJ, Zhao SX, Zhu WJ, Zhai HL, Chen FG, Song HD, Cheng KX, Liu Y, Qiao J.
    Asian J Androl; 2019 Jun 28; 21(6):577-581. PubMed ID: 31031332
    [Abstract] [Full Text] [Related]

  • 9. Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD.
    Akcan N, Uyguner O, Baş F, Altunoğlu U, Toksoy G, Karaman B, Avcı Ş, Yavaş Abalı Z, Poyrazoğlu Ş, Aghayev A, Karaman V, Bundak R, Başaran S, Darendeliler F.
    J Clin Res Pediatr Endocrinol; 2022 Jun 07; 14(2):153-171. PubMed ID: 35135181
    [Abstract] [Full Text] [Related]

  • 10. The Molecular Basis of 5α-Reductase Type 2 Deficiency.
    Batista RL, Mendonca BB.
    Sex Dev; 2022 Jun 07; 16(2-3):171-183. PubMed ID: 35793650
    [Abstract] [Full Text] [Related]

  • 11. Diagnosis of 5alpha-reductase 2 deficiency: a local experience.
    Chan AO, But BW, Lau GT, Lam AL, Ng KL, Lam YY, Lee CY, Shek CC.
    Hong Kong Med J; 2009 Apr 07; 15(2):130-5. PubMed ID: 19342739
    [Abstract] [Full Text] [Related]

  • 12. Clinical and molecular characterization of 5α-reductase type 2 deficiency due to mutations (p.Q6X, p.R246Q) in SRD5A2 gene.
    Jia W, Zheng D, Zhang L, Li C, Zhang X, Wang F, Guan Q, Fang L, Zhao J, Xu C.
    Endocr J; 2018 Jun 27; 65(6):645-655. PubMed ID: 29643321
    [Abstract] [Full Text] [Related]

  • 13. Clinical, Hormonal, and Genetic Characteristics of 5α-Reductase Type 2 Deficiency in 103 Chinese Patients.
    Liu Q, Yin X, Li P.
    Endocr Pract; 2022 Sep 27; 28(9):859-866. PubMed ID: 35700942
    [Abstract] [Full Text] [Related]

  • 14. A simple LC-MS/MS method for the determination of cortisol, cortisone and tetrahydro-metabolites in human urine: assay development, validation and application in depression patients.
    Zhai X, Chen F, Zhu C, Lu Y.
    J Pharm Biomed Anal; 2015 Mar 25; 107():450-5. PubMed ID: 25668797
    [Abstract] [Full Text] [Related]

  • 15. Accuracy of Urinary Etiocholanolone/Androsterone Ratio as Alternative to Serum Testosterone/Dihydrotestosterone Ratio for Diagnosis of 5 Alpha-reductase Type 2 Deficiency Patients and Carriers in Indonesia.
    Marzuki NS, Idris FP, Kartapradja H, Renata S, Harahap A, Batubara JRL.
    Int J Endocrinol Metab; 2021 Apr 25; 19(2):e109510. PubMed ID: 34149847
    [Abstract] [Full Text] [Related]

  • 16. Distinguishing primary from secondary Δ(4) -3-oxosteroid 5β-reductase (SRD5B1, AKR1D1) deficiency by urinary steroid analysis.
    Yanagi T, Mizuochi T, Homma K, Ueki I, Seki Y, Hasegawa T, Takei H, Nittono H, Kurosawa T, Matsuishi T, Kimura A.
    Clin Endocrinol (Oxf); 2015 Mar 25; 82(3):346-51. PubMed ID: 25154774
    [Abstract] [Full Text] [Related]

  • 17. Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46,XY DSD.
    Walter KN, Kienzle FB, Frankenschmidt A, Hiort O, Wudy SA, van der Werf-Grohmann N, Superti-Furga A, Schwab KO.
    Horm Res Paediatr; 2010 Mar 25; 74(1):67-71. PubMed ID: 20395661
    [Abstract] [Full Text] [Related]

  • 18. Male assignment in 5α-reductase type 2 deficiency with female external genitalia.
    Konishi A, Ida S, Matsui F, Etani Y, Kawai M.
    Pediatr Int; 2021 May 25; 63(5):592-594. PubMed ID: 33764589
    [No Abstract] [Full Text] [Related]

  • 19. Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.
    Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, Fenichel P, Cartigny M, Pienkowski C, Polak M, Skordis N, Mazen I, Ocal G, Berberoglu M, Reynaud R, Baumann C, Cabrol S, Simon D, Kayemba-Kay's K, De Kerdanet M, Kurtz F, Leheup B, Heinrichs C, Tenoutasse S, Van Vliet G, Grüters A, Eunice M, Ammini AC, Hafez M, Hochberg Z, Einaudi S, Al Mawlawi H, Nuñez CJ, Servant N, Lumbroso S, Paris F, Sultan C.
    J Clin Endocrinol Metab; 2011 Feb 25; 96(2):296-307. PubMed ID: 21147889
    [Abstract] [Full Text] [Related]

  • 20. Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.
    Cheng J, Lin R, Zhang W, Liu G, Sheng H, Li X, Zhou Z, Mao X, Liu L.
    Clin Endocrinol (Oxf); 2015 Oct 25; 83(4):518-26. PubMed ID: 25899528
    [Abstract] [Full Text] [Related]

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