Genetics of male infertility

C Krausz, V Rosta, RS Swerdloff, C Wang - Emery and rimoin's principles …, 2022 - Elsevier
Approximately 7% of men suffer from fertility problems, the etiology of which are ascribable
to a number of factors acting at pretesticular, posttesticular, or testicular levels. About 20% of …

[HTML][HTML] The genetic causes of male factor infertility: a review

KLO O'brien, AC Varghese, A Agarwal - Fertility and sterility, 2010 - Elsevier
OBJECTIVE: To illustrate the necessity for an enhanced understanding of the genetic basis
of male factor infertility, to present a comprehensive synopsis of these genetic elements, and …

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 …

Practical clinical and diagnostic pathway for the investigation of the infertile couple

A Garolla, D Pizzol, AR Carosso, A Borini… - Frontiers in …, 2021 - frontiersin.org
Capsule This expert opinion summarizes current knowledge on risk factors for infertility and
identifies a practical clinical and diagnostic approach for the male and female partners of an …

Complete androgen insensitivity syndrome—a review

MB Oakes, AD Eyvazzadeh, E Quint… - Journal of pediatric and …, 2008 - Elsevier
This review paper highlights important diagnostic and therapeutic concerns for girls with
Complete Androgen Insensitivity Syndrome (CAIS). CAIS is an androgen receptor defect …

State of the art for genetic testing of infertile men

RI McLachlan, MK O'Bryan - The Journal of Clinical …, 2010 - academic.oup.com
Intracytoplasmic sperm injection (ICSI) now provides fertility in many cases of severe
idiopathic spermatogenic failure and obstructive azoospermia. Genetic causes must be …

Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF) 1 and HNF4 families: functional and pathological …

GU Ryffel - Journal of molecular endocrinology, 2001 - jme.bioscientifica.com
The subcellular distribution of steroidogenic enzymes has so far been studied mostly in
classical endocrine glands and in the placenta. In the peripheral intracrine organs which …

Possible fetal determinants of male infertility

A Juul, K Almstrup, AM Andersson, TK Jensen… - Nature Reviews …, 2014 - nature.com
Although common reproductive problems, such as male infertility and testicular cancer,
present in adult life, strong evidence exists that these reproductive disorders might have a …

Gene polymorphisms and male infertility–a meta-analysis and literature review

F Tüttelmann, E Rajpert-De Meyts, E Nieschlag… - Reproductive …, 2007 - Elsevier
Many genetic polymorphisms have been studied extensively to elucidate their role in the
pathophysiology of male infertility. This article presents a review of the literature following a …

Blood testosterone threshold for androgen deficiency symptoms

S Kelleher, AJ Conway… - The Journal of Clinical …, 2004 - academic.oup.com
There are few systematic studies of the relationship between blood testosterone
concentrations and the symptoms of overt androgen deficiency. Because most testosterone …