Impact of advanced paternal age on fertility and risks of genetic disorders in offspring

A Kaltsas, E Moustakli, A Zikopoulos, I Georgiou… - Genes, 2023 - mdpi.com
The average age of fathers at first pregnancy has risen significantly over the last decade
owing to various variables, including a longer life expectancy, more access to contraception …

Male reproductive disorders and fertility trends: influences of environment and genetic susceptibility

NE Skakkebaek, E Rajpert-De Meyts… - Physiological …, 2016 - journals.physiology.org
It is predicted that Japan and European Union will soon experience appreciable decreases
in their populations due to persistently low total fertility rates (TFR) below replacement level …

Genetics of azoospermia

F Cioppi, V Rosta, C Krausz - International journal of molecular sciences, 2021 - mdpi.com
Azoospermia affects 1% of men, and it can be due to:(i) hypothalamic-pituitary
dysfunction,(ii) primary quantitative spermatogenic disturbances,(iii) urogenital duct …

Effects of increased paternal age on sperm quality, reproductive outcome and associated epigenetic risks to offspring

R Sharma, A Agarwal, VK Rohra, M Assidi… - Reproductive Biology …, 2015 - Springer
Over the last decade, there has been a significant increase in average paternal age when
the first child is conceived, either due to increased life expectancy, widespread use of …

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 …

Disorders of spermatogenesis: perspectives for novel genetic diagnostics after 20 years of unchanged routine

F Tüttelmann, C Ruckert, A Röpke - Medizinische Genetik, 2018 - degruyter.com
Infertility is a common condition estimated to affect 10–15% of couples. The clinical causes
are attributed in equal parts to the male and female partners. Diagnosing male infertility …

Role of genetics and epigenetics in male infertility

S Gunes, SC Esteves - Andrologia, 2021 - Wiley Online Library
Male infertility is a complex condition with a strong genetic and epigenetic background. This
review discusses the importance of genetic and epigenetic factors in the pathophysiology of …

Genetics of male infertility: from research to clinic

C Krausz, AR Escamilla, C Chianese - Reproduction, 2015 - rep.bioscientifica.com
Male infertility is a multifactorial complex disease with highly heterogeneous phenotypic
representation and in at least 15% of cases, this condition is related to known genetic …

[HTML][HTML] DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

JP Suntharalingham, F Buonocore, AJ Duncan… - Best practice & research …, 2015 - Elsevier
DAX-1 (NR0B1) and SF-1 (NR5A1) are two nuclear receptor transcription factors that play a
key role in human adrenal and reproductive development. Loss of DAX-1 function is …

The orphan nuclear receptors steroidogenic factor-1 and liver receptor homolog-1: structure, regulation, and essential roles in mammalian reproduction

MC Meinsohn, OE Smith, K Bertolin… - Physiological …, 2019 - journals.physiology.org
Nuclear receptors are intracellular proteins that act as transcription factors. Proteins with
classic nuclear receptor domain structure lacking identified signaling ligands are designated …