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 …

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 …

[HTML][HTML] 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 …

Androgen resistance

IA Hughes, A Deeb - Best practice & research Clinical endocrinology & …, 2006 - Elsevier
Androgen resistance causes the androgen insensitivity syndrome in its variant forms and is
a paradigm of clinical syndromes associated with hormone resistance. In its complete form …

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 …

Minireview: sex differentiation

IA Hughes - Endocrinology, 2001 - academic.oup.com
Mammalian sex differentiation is a hormone-dependent process in the male following the
determination of a testis from the indifferent gonad through a cascade of genetic events …

Molecular genetics of hypospadias and cryptorchidism recent developments

N Kalfa, L Gaspari, M Ollivier, P Philibert… - Clinical …, 2019 - Wiley Online Library
During the last decade, a tremendous amount of work has been devoted to the study of the
molecular genetics of isolated hypospadias and cryptorchidism, two minor forms of disorders …

Phenotypic heterogeneity of mutations in androgen receptor gene

R Singh, L Singh, K Thangaraj - Asian journal of andrology, 2007 - Wiley Online Library
Androgen receptor (AR) gene has been extensively studied in diverse clinical conditions. In
addition to the point mutations, trinucleotide repeat (CAG and GGN) length polymorphisms …

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 …

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 …