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138 related items for PubMed ID: 34149847

  • 1. 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; 19(2):e109510. PubMed ID: 34149847
    [Abstract] [Full Text] [Related]

  • 2. Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency.
    Marzuki NS, Idris FP, Kartapradja HD, Harahap AR, Batubara JRL.
    Int J Endocrinol; 2019 Apr; 2019():7676341. PubMed ID: 31885560
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. C19 and C21 5 beta/5 alpha metabolite ratios in subjects treated with the 5 alpha-reductase inhibitor finasteride: comparison of male pseudohermaphrodites with inherited 5 alpha-reductase deficiency.
    Imperato-McGinley J, Shackleton C, Orlic S, Stoner E.
    J Clin Endocrinol Metab; 1990 Mar 26; 70(3):777-82. PubMed ID: 1689740
    [Abstract] [Full Text] [Related]

  • 5. Comparison between testosterone enanthate-induced azoospermia and oligozoospermia in a male contraceptive study. III. Higher 5 alpha-reductase activity in oligozoospermic men administered supraphysiological doses of testosterone.
    Anderson RA, Wallace AM, Wu FC.
    J Clin Endocrinol Metab; 1996 Mar 26; 81(3):902-8. PubMed ID: 8772548
    [Abstract] [Full Text] [Related]

  • 6. Clinical, Hormonal, and Genetic Spectrum of 46 XY Disorders of Sexual Development (DSD) Patients.
    Palui R, Ravichandran L, Kamalanathan S, Chapla A, Sahoo J, Narayanan N, Naik D, Thomas N.
    Indian J Pediatr; 2024 May 18. PubMed ID: 38761274
    [Abstract] [Full Text] [Related]

  • 7. 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 May 18; 74(1):67-71. PubMed ID: 20395661
    [Abstract] [Full Text] [Related]

  • 8. Spectrum of Pathogenic Variants in SRD5A2 in Indian Children with 46,XY Disorders of Sex Development and Clinically Suspected Steroid 5α-Reductase 2 Deficiency.
    Kumar A, Sharma R, Faruq M, Suroliya V, Kumar M, Sharma S, Werner R, Hiort O, Jain V.
    Sex Dev; 2019 May 18; 13(5-6):228-239. PubMed ID: 32894851
    [Abstract] [Full Text] [Related]

  • 9. Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development.
    Li L, Zhang J, Li Q, Qiao L, Li P, Cui Y, Li S, Hao S, Wu T, Liu L, Yin J, Hu P, Dou X, Li S, Yang H.
    Ital J Pediatr; 2022 Mar 24; 48(1):47. PubMed ID: 35331321
    [Abstract] [Full Text] [Related]

  • 10. Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.
    Batista RL, Mendonca BB.
    Appl Clin Genet; 2020 Mar 24; 13():83-96. PubMed ID: 32346305
    [Abstract] [Full Text] [Related]

  • 11. 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 24; 59(5):798-806. PubMed ID: 23513070
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Early diagnosis of 5alpha-reductase deficiency in newborns.
    Bertelloni S, Scaramuzzo RT, Parrini D, Baldinotti F, Tumini S, Ghirri P.
    Sex Dev; 2007 Sep 28; 1(3):147-51. PubMed ID: 18391525
    [Abstract] [Full Text] [Related]

  • 14. Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.
    Ittiwut C, Pratuangdejkul J, Supornsilchai V, Muensri S, Hiranras Y, Sahakitrungruang T, Watcharasindhu S, Suphapeetiporn K, Shotelersuk V.
    J Pediatr Endocrinol Metab; 2017 Jan 01; 30(1):19-26. PubMed ID: 27849622
    [Abstract] [Full Text] [Related]

  • 15. Genotype-phenotype correlation, gonadal malignancy risk, gender preference, and testosterone/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 deficiency: a multicenter study from Turkey.
    Abacı A, Çatlı G, Kırbıyık Ö, Şahin NM, Abalı ZY, Ünal E, Şıklar Z, Mengen E, Özen S, Güran T, Kara C, Yıldız M, Eren E, Nalbantoğlu Ö, Güven A, Çayır A, Akbaş ED, Kor Y, Çürek Y, Aycan Z, Baş F, Darcan Ş, Berberoğlu M.
    J Endocrinol Invest; 2019 Apr 01; 42(4):453-470. PubMed ID: 30132287
    [Abstract] [Full Text] [Related]

  • 16. Comparison of two tests to recognize or exclude 5 alpha-reductase deficiency in prepubertal children.
    Greene S, Zachmann M, Manella B, Hesse V, Hoepffner W, Willgerodt H, Prader A.
    Acta Endocrinol (Copenh); 1987 Jan 01; 114(1):113-7. PubMed ID: 2880442
    [Abstract] [Full Text] [Related]

  • 17. Correlation of androgen receptor and SRD5A2 gene mutations with pediatric hypospadias in 46, XY DSD children.
    Fu XH, Zhang WQ, Qu XS.
    Genet Mol Res; 2016 Mar 31; 15(1):15018232. PubMed ID: 27051040
    [Abstract] [Full Text] [Related]

  • 18. Increased activation of the alternative "backdoor" pathway in patients with 21-hydroxylase deficiency: evidence from urinary steroid hormone analysis.
    Kamrath C, Hochberg Z, Hartmann MF, Remer T, Wudy SA.
    J Clin Endocrinol Metab; 2012 Mar 31; 97(3):E367-75. PubMed ID: 22170725
    [Abstract] [Full Text] [Related]

  • 19. Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development.
    Mao Y, Huang JM, Chen-Zhang YW, Lin H, Zhang YH, Jiang JY, Wu XM, Liao L, Tang YM, Yang JY.
    Asian J Androl; 2024 Sep 24. PubMed ID: 39314038
    [Abstract] [Full Text] [Related]

  • 20. Assessment of 5 alpha-reductase activity in hirsute women: comparison of serum androstanediol glucuronide with urinary androsterone and aetiocholanolone excretion.
    Gilad S, Chayen R, Tordjman K, Kisch E, Stern N.
    Clin Endocrinol (Oxf); 1994 Apr 24; 40(4):459-64. PubMed ID: 8187312
    [Abstract] [Full Text] [Related]


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