Endocrine Abstracts

The role of CNVs in male infertility is poorly defined, and only those linked to the Y chromosome have been the object of extensive research. Although it has been predicted that the X chromosome is also enriched in spermatogenesis genes, no clinically relevant gene mutations have been identified so far. In order to advance our understanding of the role of X-linked genetic factors in male infertility, we applied high resolution X chromosome specific array-CGH in 199 men with di...

BackgroundPrecise diagnostics for postprandial reactive hypoglycaemic syndrome (PRHS) after gastric bypass surgery (GBS) are lacking. Oral glucose tolerance tests are advocated but might cause early dumping in this population and often cause hypoglycaemic values in a normal population.AimTo evaluate glycaemic responses during liquid and solid mixed meal tolerance tests (LMMTT and SMMTT) in a post-GBS populati...

Introduction: INSL3 and its receptor LGR8, are essential for the first phase of testicular descent. Homozygous loss of either of the two genes in mice leads to cryptorchidism. Even though mutations in both homologous human genes are not a common cause of cryptorchidism. To date, only one missense mutation at codon 222 (T222P) of the LGR8 gene has been proposed as causative mutation for cryptorchidism. This conclusion was based on both functional in vitro studies and the...