Searchable abstracts of presentations at key conferences in endocrinology
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18th European Congress of Endocrinology

Symposia

Genetics and epigenetics of testicular failure

ea0041s17.1 | Genetics and epigenetics of testicular failure | ECE2016

Aberrations on the X-chromosome as cause of male infertility

Tuttelmann Frank

Infertility affects 10–15% of couples and the causes of couple infertility are equally attributed to male and female (co-)factors. Male infertility is a genetically and clinically highly heterogeneous disease with a multitude of up to 1,500 genes supposedly involved in spermatogenesis. Thus, unravelling the underlying causes and the pathophysiology is challenging and candidate gene approaches, e.g. picking one or several genes known to cause infertility in mice, did not i...

ea0041s17.2 | Genetics and epigenetics of testicular failure | ECE2016

Gene variants modulating testicular function

Laan Maris

Determinants of male reproductive system are highly complex. The palette of genetic variants modulating testicular function and fertility potential, are expected to be heterogenous. Our team has exploited complimentary study designs to provide novel insights and robust data on the contribution of genetic variation to testicular physiology and risk to impaired fertility in men. Firstly, I discuss our discovery studies utilizing the candidate gene approach and focusing on gonado...

ea0041s17.3 | Genetics and epigenetics of testicular failure | ECE2016

SEMA3A and SEMA3E: from mice to Kallmann syndrome

Cariboni Anna

Gonadotropin releasing hormone neurons are a small group of scattered hypothalamic neuroendocrine cells that control reproductive functions in all mammals and many vertebrates.Despite their position in the adult hypothalamus, during development they originate in the nasal placode and migrate along the vomeronasal nerve to reach the forebrain and attain their final position in the hypothalamus. Failure of GnRH neurons to migrate lead to Kallmann Syndrome,...