Endocrine Abstracts

Mortality is 3 fold higher in patients with Turner syndrome (TS) than in the general population, primarily due to cardiovascular complications. Recent clinical guidelines (Gravholt et al. EJE 2017) underlined the need of a lifelong cardiovascular follow-up. However, prospective studies evaluating the aortic natural history in clinical practice are scarce. We performed a monocentric longitudinal study including 204 adult TS patients, between 2005 and 2018. Inclusion criteria we...

Introduction: 45,X karyotype is known to be related to more severe phenotype disorders, still comparative analysis of the karyotypes and phenotypes in Turner syndrome (TS) is difficult, even in the largest studies, mainly due to differences in patient‘s age and variability in the definition of clinical features (1). We aimed: to assess if monosomia in Turner syndrome patients is related to their cardiometabolic features.Methods: 75 females with conf...

Context: Metformin is an established therapy for women with PCOS and pre-diabetes or diabetes when lifestyle modification is insufficient. Metformin should also be considered in women with PCOS with BMI≥25 kg/m2 independently of the presence of metabolic disturbances. However, its long-term efficacy in this subset of patients is inadequately studied.Aim: We analyzed collection data of 10 years for the efficacy of metformin on body mass (...

Context: Polycystic ovary syndrome (PCOS) is associated with an increased cardiometabolic risk that might not necessarily translate into adverse cardiovascular outcome later in life. Recently, alterations in gut microbial composition have been reported in the syndrome. Microbiota-dependent metabolite trimethylamine N-oxide (TMAO) and its precursors are closely linked with development of atherosclerotic cardiovascular disease, independently of traditional risk factors.<p cl...

Background: Maternal circulating cortisol and 24-h urinary free cortisol levels are up to three times higher in third trimester pregnant women compared to non-pregnant women. Maternal cortisol status could be associated with offspring sex, maternal PCOS and testosterone levels.Aims: To determine predictors of maternal serum (S) and urinary (U) cortisol and cortisone levels during 3rd trimester and to examine associations between maternal cortisol status,...

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...

Background: HIV-infection is associated to several age-related comorbidities, such as a premature decline of serum testosterone (T). There is evidence about the relationship between health status, represented by frailty and comorbidities, and serum T levels in general population, while only one previous retrospective study investigated it in HIV-infected men.Aim: To investigate the association between frailty and gonadal status by assessing serum total T...

Prolactin (PRL) exerts independent hypertrophic effects on prostate in in vivo and in vitro experimental models, and prostatic PRL receptors are known to activate cell proliferation pathways such as MAPK and STAT. Nevertheless, in men with hyperprolactinemia the risk of prostate cancer has been found reduced suggesting a role of concomitant hypogonadism. Chronic cabergoline treatment generally normalizes PRL treatment and improves gonadal function. The curren...

Introduction: Isolated Gonadotropin Releasing Hormone (GnRH) Deficiency (IGD) is a rare disease with a wide spectrum of reproductive and non- reproductive clinical characteristics and is mainly characterized by hypogonadotropic hypogonadism with anosmia (Kallmann Syndrome) or normal olfactory function (Normosmic Idiopathic Hypogonadotropic Hypogonadism- nIHH). Apart from the phenotypic heterogeneity IGD is also highly genetically heterogeneous with >35 genes impli...