scholarly journals SRD5A2 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Srd5a2 Gene

scholarly journals Correlation of androgen receptor and SRD5A2 gene mutations with pediatric hypospadias in 46, XY DSD children

2016 ◽  
Vol 15 (1) ◽  
Author(s):  
X.H. Fu ◽  
W.Q. Zhang ◽  
X.S. Qu
Keyword(s):  
Androgen Receptor ◽  
Gene Mutations ◽  
Srd5a2 Gene

An Acceptor Site Mutation in Intron 1 of the Steroid 5α-Reductase-2 (SRD5A2) Gene in Two Unrelated Cases of 46XY Male Pseudohermaphordite.

2010 ◽  
pp. P1-311-P1-311
Author(s):  
Ali S. Alzahrani ◽  
Minjing Zou ◽  
Essa Baitei ◽  
Roua Al-Rijjal ◽  
Omalkhaire Al-Shaikh ◽  
...  
Keyword(s):  
Acceptor Site ◽  
Site Mutation ◽  
Srd5a2 Gene ◽  
Intron 1

UP-1.131: Role of Genetic Polymorphism in SRD5A2 Gene in Progression of Prostate Cancer

Urology ◽  
2009 ◽  
Vol 74 (4) ◽  
pp. S211
Author(s):  
C. Slavov ◽  
E. Popov ◽  
A. Mitkova ◽  
R. Kaneva
Keyword(s):  
Prostate Cancer ◽  
Genetic Polymorphism ◽  
Srd5a2 Gene

scholarly journals Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency

2019 ◽  
Vol 2019 ◽  
pp. 1-10 ◽  
Author(s):  
Nanis S. Marzuki ◽  
Firman P. Idris ◽  
Hannie D. Kartapradja ◽  
Alida R. Harahap ◽  
Jose R. L. Batubara
Keyword(s):  
Autosomal Recessive ◽  
Disorders Of Sex Development ◽  
External Genitalia ◽  
Compound Heterozygous ◽  
Phenotypic Characteristics ◽  
Sex Development ◽  
Srd5a2 Gene ◽  
Diagnostic Approaches ◽  
Autosomal Recessive Condition

The 5-alpha-reductase type 2 deficiency (5ARD2) is an autosomal recessive condition associated with impairment in the conversion of testosterone to dihydrotestosterone. This condition leads to undervirilisation in 46,XY individuals. To date, there have been more than 100 variations identified in the gene responsible for 5ARD2 development (steroid 5-alpha-reductase 2, SRD5A2). However, few studies have examined the molecular characterisation of Indonesian 5ARD2 cases. In the current study, we analysed 37 subjects diagnosed with 46,XY DSD (disorders of sex development) with confirmed variations in the SRD5A2 gene. We examined results from testosterone/dihydrotestosterone (T/DHT) and urinary etiocholanolone/androsterone (Et/An) ratios, as well as from molecular and clinical analyses. Twelve variants in the SRD5A2 gene were identified, and 6 of which were novel, namely, c.34–38delGinsCCAGC, p.Arg50His, p.Tyr136∗, p.Gly191Arg, p.Phe194Ile, and p.Ile253Val variants. Moreover, we determined that 20 individuals contained harmful mutations, while the remaining 17 variants were benign. Those containing harmful mutations exhibited more severe phenotypes with median external genitalia masculinisation scores (EMS) of 3 (1.5–9) and were more likely to be diagnosed at a later age, reared as female, and virilised at pubertal age. In addition, the respective sensitivities for detecting severe 5ARD2 cases using T/DHT (cutoff: 10) and urinary Et/An ratios (cutoff: 0.95) were 85% and 90%, whereas mild cases were only identified with 64.7% and 47.1% sensitivity, respectively. Although we were unable to identify clear correlations between genotypic and phenotypic characteristics in this study, we clearly showed that individuals who were homozygous or compound heterozygous for any of the harmful mutations were more likely to exhibit classic 5ARD2 phenotypes, lower EMS, female assignment at birth, and virilisation during puberty. These results serve to inform the development of improved clinical and molecular 5ARD2 diagnostic approaches, specifically in Indonesian patients.

Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA

The Lancet ◽  
1999 ◽  
Vol 354 (9183) ◽  
pp. 975-978 ◽  
Author(s):  
Nick M Makridakis ◽  
Ronald K Ross ◽  
Malcolm C Pike ◽  
Laura E Crocitto ◽  
Laurence N Kolonel ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
African American ◽  
Los Angeles ◽  
Srd5a2 Gene ◽  
Hispanic Men

Clinical, Biochemical and Morphologic Diagnostic Markers in an Infant Male Pseudohermaphrodite Patient with Compound Heterozygous Mutations (G115D/R246W) in SRD5A2 Gene

2004 ◽  
Vol 62 (5) ◽  
pp. 259-264 ◽  
Author(s):  
Mónica Fernández-Cancio ◽  
Joan Rodó ◽  
Pilar Andaluz ◽  
María Jesús Martínez de Osaba ◽  
Francisco Rodríguez-Hierro ◽  
...  
Keyword(s):  
Diagnostic Markers ◽  
Compound Heterozygous ◽  
Srd5a2 Gene ◽  
Compound Heterozygous Mutations ◽  
Infant Male

scholarly journals Steroid 5- -Reductase Type 2 (SRD5a2) Gene Polymorphisms and Risk of Prostate Cancer: A HuGE Review

2009 ◽  
Vol 171 (1) ◽  
pp. 1-13 ◽  
Author(s):  
J. Li ◽  
R. J. Coates ◽  
M. Gwinn ◽  
M. J. Khoury
Keyword(s):  
Prostate Cancer ◽  
Gene Polymorphisms ◽  
Srd5a2 Gene

scholarly journals SRD5A2 gene polymorphisms affect the risk of breast cancer

The Breast ◽  
2014 ◽  
Vol 23 (2) ◽  
pp. 137-141 ◽  
Author(s):  
Amirtharaj Francis ◽  
Saumya Sarkar ◽  
Singh Pooja ◽  
Daminani Surekha ◽  
Digumarthi Raghunatha Rao ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Gene Polymorphisms ◽  
Srd5a2 Gene

scholarly journals Micropenis and the 5α-Reductase-2 (SRD5A2) Gene: Mutation and V89L Polymorphism Analysis in 81 Japanese Patients

2003 ◽  
Vol 88 (7) ◽  
pp. 3431-3436 ◽  
Author(s):  
Goro Sasaki ◽  
Tsutomu Ogata ◽  
Tomohiro Ishii ◽  
Kenjiro Kosaki ◽  
Seiji Sato ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Japanese Patients ◽  
Polymorphism Analysis ◽  
Srd5a2 Gene
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