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Journal Abstract Search

297 related items for PubMed ID: 21402750

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  • 2. Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development.
    Phelan N, Williams EL, Cardamone S, Lee M, Creighton SM, Rumsby G, Conway GS.
    Eur J Endocrinol; 2015 Jun; 172(6):745-51. PubMed ID: 25740850
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  • 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
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  • 4. 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
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  • 5. 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 27; 56(10):685-692. PubMed ID: 31186340
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  • 6. 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
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  • 7. 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 28; 83(4):518-26. PubMed ID: 25899528
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  • 8. Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: the P212R substitution of the steroid 5alpha-reductase 2 may constitute an ancestral founder mutation in Mexican patients.
    Vilchis F, Ramos L, Méndez JP, Benavides S, Canto P, Chávez B.
    J Androl; 2010 Oct 28; 31(4):358-64. PubMed ID: 20019388
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  • 9. 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
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  • 15. 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 Jan 01; 74(1):67-71. PubMed ID: 20395661
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  • 16. 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
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  • 18. 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 31; 59(5):798-806. PubMed ID: 23513070
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  • 20. Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A>G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea.
    Skordis N, Shammas C, Efstathiou E, Sertedaki A, Neocleous V, Phylactou L.
    Hormones (Athens); 2011 May 31; 10(3):230-5. PubMed ID: 22001134
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