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
Author:
Funder
Çocuk Endokrinolojisi ve Diyabet Derneği
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
http://link.springer.com/content/pdf/10.1007/s40618-018-0940-y.pdf
Reference48 articles.
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2. Cheon CK (2011) Practical approach to steroid 5alpha-reductase type 2 deficiency. Eur J Pediatr 170(1):1–8. https://doi.org/10.1007/s00431-010-1189-4
3. 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 (2013) Diagnosis of 5alpha-reductase 2 deficiency: is measurement of dihydrotestosterone essential? Clin Chem 59(5):798–806. https://doi.org/10.1373/clinchem.2012.196501
4. 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, Gruters A, Eunice M, Ammini AC, Hafez M, Hochberg Z, Einaudi S, Al Mawlawi H, Nunez CJ, Servant N, Lumbroso S, Paris F, Sultan C (2011) Phenotypical, biological, and molecular heterogeneity of 5alpha-reductase deficiency: an extensive international experience of 55 patients. J Clin Endocrinol Metab 96(2):296–307. https://doi.org/10.1210/jc.2010-1024
5. Cheng J, Lin R, Zhang W, Liu G, Sheng H, Li X, Zhou Z, Mao X, Liu L (2015) Phenotype and molecular characteristics in 45 Chinese children with 5alpha-reductase type 2 deficiency from South China. Clin Endocrinol (Oxf) 83(4):518–526. https://doi.org/10.1111/cen.12799
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