Genetic polymorphisms of 17β-hydroxysteroid dehydrogenase 3 and the risk of hypospadias

F Sata, N Kurahashi, S Ban, K Moriya… - The journal of sexual …, 2010 - academic.oup.com
Introduction Hypospadias is a common congenital anomaly caused by incomplete fusion of
urethral folds. Development of the urethra and external genital system in the male fetus is an …

Steroid 5-alpha-reductase type 2 (SRD5A2) gene V89L polymorphism and hypospadias risk: A meta-analysis

K Zhang, Y Li, Y Mao, M Ma - Journal of Pediatric Urology, 2017 - Elsevier
Background Hypospadias is a common congenital malformation in males, in which the
urethral orifice is found on the ventral side of the penis as a result of incomplete fusion of …

The valine allele of the V89L polymorphism in the 5-α-reductase gene confers a reduced risk for hypospadias

HTT Thai, M Kalbasi, K Lagerstedt… - The Journal of …, 2005 - academic.oup.com
Context: Hypospadias is one of the most common malformations in man, with an incidence
of 1: 300 in newborn boys. No gene has been identified that causes isolated hypospadias …

Association of SRD5A2 gene mutations with risk of hypospadias in the Iranian population

M Rahimi, M Ghanbari, Z Fazeli, M Rouzrokh… - Journal of …, 2017 - Springer
Background Hypospadias is one of the most common forms of congenital malformation of
the male external genitalia worldwide. The ratio in the Iranian population is one in 250 live …

Steroid 5α-reductase 1 polymorphisms and testosterone/dihydrotestosterone ratio in male patients with hypospadias

A Tria, O Hiort, GHG Sinnecker - Hormone research, 2004 - karger.com
Background/Aim: Defects in the steroid 5α-reductase type 2 (SRD5A2) activity cause
decreased formation of dihydrotestosterone (DHT) from testosterone (T), resulting in …

Hypospadias risk and polymorphism in SRD5A2 and CYP17 genes: case-control study among Indian children

R Samtani, M Bajpai, K Vashisht, PK Ghosh… - The Journal of …, 2011 - auajournals.org
Purpose: Hypospadias is a common congenital error of genital development, the frequency
of which is increasing. As androgens have a significant role in the development of the male …

Genotype-phenotype correlation and identification of two novel SRD5A2 mutations in 33 Chinese patients with hypospadias

S Yuan, L Meng, Y Zhang, C Tu, J Du, W Li, P Liang… - Steroids, 2017 - Elsevier
Hypospadias, a common congenital malformation of male external genitalia, is
characterized mainly by an aberrant opening of the urethra on the ventral side of the penis …

[HTML][HTML] A49T, R227Q and TA repeat polymorphism of steroid 5 alpha-reductase type II gene and Hypospadias risk in North Indian children

R Samtani, M Bajpai, PK Ghosh, KN Saraswathy - Meta gene, 2015 - Elsevier
Abstract Background/Aims Hypospadias is a common congenital error of genital
development, the frequency of which is increasing. As androgens have a significant role in …

Genetics of Hypospadias: Are Single-Nucleotide Polymorphisms in SRD5A2, ESR1, ESR2, and ATF3 Really Associated with the Malformation?

LFM Van Der Zanden, IALM Van Rooij… - The Journal of …, 2010 - academic.oup.com
Context: Hypospadias is a common congenital malformation of the male external genitalia
with a multifactorial etiology. Little is known about the genes involved in hypospadias. A few …

Mutation analysis of the SRD5A2, AR and SF-1 genes in 52 Chinese boys with hypospadias

R Wang, Z Dong, W Wang, Y Xiao, J Ni… - Journal of Pediatric …, 2013 - degruyter.com
Objectives: To investigate the prevalence of genetic mutations in steroid 5α-reductase-2
(SRD5A2), androgen receptor (AR) and steroidogenic factor-1 (SF-1) in Chinese children …