Aetiology of hypospadias: a systematic review of genes and environment
LFM Van der Zanden, I Van Rooij… - Human reproduction …, 2012 - academic.oup.com
BACKGROUND Hypospadias is a common congenital malformation of the male external
genitalia. Most cases have an unknown aetiology, which is probably a mix of monogenic …
genitalia. Most cases have an unknown aetiology, which is probably a mix of monogenic …
Developmental model for the pathogenesis of testicular carcinoma in situ: genetic and environmental aspects
E Rajpert-De Meyts - Human reproduction update, 2006 - academic.oup.com
Carcinoma in situ testis (CIS), also known as intratubular germ cell neoplasia (ITGCN), is a
pre-invasive precursor of testicular germ cell tumours, the commonest cancer type of male …
pre-invasive precursor of testicular germ cell tumours, the commonest cancer type of male …
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
S Eggers, S Sadedin, JA Van Den Bergen, G Robevska… - Genome biology, 2016 - Springer
Background Disorders of sex development (DSD) are congenital conditions in which
chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often …
chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often …
A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length
S Dejager, H Bry-Gauillard, E Bruckert… - The Journal of …, 2002 - academic.oup.com
Our study aims to provide a comprehensive view of the endocrine features in Kennedy's
disease (KD). Twenty-two men with KD underwent detailed endocrine investigations …
disease (KD). Twenty-two men with KD underwent detailed endocrine investigations …
Environmental and genetic contributors to hypospadias: a review of the epidemiologic evidence
SL Carmichael, GM Shaw… - Birth Defects Research …, 2012 - Wiley Online Library
This review evaluates current knowledge related to trends in the prevalence of hypospadias,
the association of hypospadias with endocrine‐disrupting exposures, and the potential …
the association of hypospadias with endocrine‐disrupting exposures, and the potential …
Hypospadias: interactions between environment and genetics
N Kalfa, P Philibert, LS Baskin, C Sultan - Molecular and cellular …, 2011 - Elsevier
Hypospadias is one of the most common congenital malformations. It is considered to be a
mild form of the 46, XY disorders of sex development (DSD), but its precise etiology remains …
mild form of the 46, XY disorders of sex development (DSD), but its precise etiology remains …
Molecular epidemiology of hypospadias: review of genetic and environmental risk factors
JM Manson, MC Carr - Birth Defects Research Part A: Clinical …, 2003 - Wiley Online Library
Hypospadias is one of the most common congenital anomalies in the United States,
occurring in approximately 1 in 125 live male births. It is characterized by altered …
occurring in approximately 1 in 125 live male births. It is characterized by altered …
Linkage between cryptorchidism, hypospadias, and GGN repeat length in the androgen receptor gene
EL Aschim, A Nordenskjöld… - The Journal of …, 2004 - academic.oup.com
Although sufficient androgen receptor (AR) function is crucial for normal male sexual
differentiation, single-point mutations in the AR gene are infrequent in the two most common …
differentiation, single-point mutations in the AR gene are infrequent in the two most common …
Review of genetic and environmental factors leading to hypospadias
EM Shih, JM Graham Jr - European journal of medical genetics, 2014 - Elsevier
Hypospadias is one of the most common congenital malformations, affecting about 4–6
males per 1000 male births, and ranging in severity from a urethral meatus that is slightly off …
males per 1000 male births, and ranging in severity from a urethral meatus that is slightly off …
Genetic pathway of external genitalia formation and molecular etiology of hypospadias
Y Kojima, K Kohri, Y Hayashi - Journal of Pediatric Urology, 2010 - Elsevier
Hypospadias is one of the most common congenital disorders in males. Impaired fetal
androgen action interferes with masculinization, including external genitalia formation, and …
androgen action interferes with masculinization, including external genitalia formation, and …