Endocrine Abstracts

Male infertility affects 7% of the general population and in about 50% of cases the aetiology remains unknown. The routine genetic testing is based on karyotype analysis and the screening of Y chromosome deletions. For long time the role of the other sex chromosome, the X chromosome, in spermatogenesis remained largely unexplored. While both sex chromosomes are derived from a pair of autosomes around 300 million years ago, their current size and gene content differs dramatical...

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...

Follicle-stimulating hormone (FSH) therapy is a potential treatment option in idiopathic infertile men with normal FSH levels. In fact, a recent Cochrane meta-analysis showed that FSH treatment of men affected by idiopathic oligozoospermia significantly improves pregnancy rate. Hyaluronic acid (HA) binding capacity of spermatozoa is considered a marker of functional competency, consequently the evaluation of the percentage of HA bound spermatozoa in the ejaculate can serve as ...

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...

Purpose: Non-Obstructive Azoospermia (NOA), occurring in approximately 1% of men, has an unknown etiology in the majority of cases. This study aims at evaluating the diagnostic efficiency of a gene panel contemplating all known genes associated with azoospermia in mice.Subjects and methods: Design of a ‘mouse azoospermia’ gene panel through the consultation of MGI; selection of 175 mouse azoospermia genes with human orthologues; selection of 31...

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...

Idiopathic central hypogonadism (ICH) is a rare and heterogeneous disease due to defects of GnRH secretion or action. Depending on the association with a normal or defective sense of smell, ICH could be respectively identified as normosmic ICH (nICH) or Kallmann’s syndrome (KS). Recent experimental evidences indicate the involvement of the new PROK2/PROKR2 pathway in GnRH neuron maturation and function and mutations affecting these two genes have been described in some IC...

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...

Background: The etiology of non-obstructive azoospermia (NOA) remains unknown in about 40% of cases and genetic factors are likely to be involved in a large proportion of them. Gene mutations involved in stem cell proliferation and DNA repair may cause isolated NOA or be responsible for syndromic diseases, such as Fanconi Anemia (FA). Although the most frequent presenting symptom in FA is bone marrow failure in childhood, in about 10% of cases the diagnosis is delayed until ad...