Endocrine Abstracts

Background: Congenital hypogonadotropic hypogonadism (CHH), a clinically and genetic heterogenous sydrome, is caused by > 40 known loci whose mutations share the ability to cause defects in the ontogeny of the GnRH neuron network leading to absent/incomplete puberty and infertility. Cornelia de Lange Syndrome (CdLS) is similarly heterogenous disorder (distinctive facies, psychomotor delay, growth retardation and upper limb malformation) caused by mutations in 7 different g...

Introduction: Obesity is a worldwide pandemic, and in men can often be associated with hypogonadotropic hypogonadism (HH), a finding consistent with a clear link between sex steroids and reproduction. In this study, we aimed to characterize the phenotypic spectrum of male obesity, focusing on the metabolic and reproductive effect of weight loss after bariatric surgery, as well as to explore the role of central inflammation.Methods: We conducted an observ...

Context: Congenital hypogonadotropic hypogonadism (CHH) and CHARGE syndrome are clinically and genetically overlapping syndromes, with mutations in the CHD7 gene presenting in both disorders. However systematic evaluation of CHARGE features in CHD7-positive CHH patients is seldom performed.Objective: This study aims to systematically evaluate CHARGE features in CHD7-positive patients and explore the phenotype-genotype correlation.<p...