Endocrine Abstracts

Introduction: Y-chromosomal azoospermia factor (AZF) microdeletions are one of the few well-established genetic causes of male infertility, specifically azoospermia or severe oligozoospermia. Since the introduction of a PCR-based method to easily detect the distinct deletion patterns, the screening of infertile men for Y microdeletions has become a very common genetic test performed frequently by a large number of laboratories. An external quality control scheme was establishe...

Data about the entire sperm DNA methylome are limited to two sperm donors whereas studies dealing with a greater number of subjects focused only on a few genes or were based on low resolution arrays. This implies that information about what we can consider as a normal sperm DNA methylome and whether it is stable among different normozoospermic individuals is still missing. The definition of the DNA methylation profile of normozoospermic men, the entity of inter-individual vari...

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...

Introduction: ICH is a rare and heterogeneous condition due to defects of GnRH secretion or action. Recent data indicate that ICH, though characterized by a strong genetic component, is a disease of multifactorial origin. Indeed, digenic defects have been described as a possible pathogenic explanation for ICH.Subjects: We present two familial cases with particular clinical and genetic profiles, out of a cohort of 300 ICH patients.R...

Introduction and objectives: Achieving and maintaining a penile erection are two essential components of the male sexual response. It has recently been suggested that distinct molecular mechanism could underlie the two disturbances. The aim of the present study is to verify possible clinical differences on pathogenetic factors underlying difficulties of achieving and maintaining an erection.Methods: We studied a consecutive series of 560 pa...