ESPE Abstracts

Context: Newborns with Congenital hypogonadotropic hypogonadism (CHH) have an impaired postnatal activation of the gonadotropic axis. Substitutive therapy with recombinant gonadotropins can be proposed to mimic physiological male mini-puberty during the first months of life.Objective: To retrospectively compare the clinical (penile size, volume and testicular descent) and biological efficacy (serum concentrations of test...

Background: Approximately one-third of the central precocious puberty (CPP) cases have familial transitions. Although more than 30 genes related to puberty have been reported to date, only a few (KISS1, KISS1R, MKRN3, DLK1 and PROKR2) were associated with CPP. This study aims to reveal the associated sequence variants of MKRN3 and DLK1 genes in cases with familial CPP and their etiology.Method:...

In recent years, the problem of androgen deficiency as a factor in the formation of dyslipidemia, endothelial dysfunction, insulin resistance and systemic inflammation has been studied mainly in adult men, because the main cause of mortality and disability in this cohort is cardiovascular disease. However, there are practically no data on the relationships of sex hormones with lipid metabolism during hypoandrogenism (HA) during puberty.Aim of research: w...

Introduction: Patients homozygous for mutation in the PCSK-1 gene present clinically with severe congenital diarrhea and variable hormonal defects due to lack of enzyme/prohormone processing by Prohormone Convertase 1/3 (PC1/3). Although absence of spontaneous puberty has been reported in patients with PCSK-1 mutations, no peptide hormone(s) in the hypothalamus-pituitary-gonadal axis (HPG) have been reported to be dependent on PC1/3 cleavage. Here we studied t...

Introduction: Primary brain tumors are the second most common childhood malignancies, with an increasing survival rate over the years. Late effects on puberty and fertility alter survivors’ quality of life.Methods: We included 204 patients diagnosed with a primary brain tumor before 18 years, followed in pediatric endocrinology at the University Hospital “Necker-Enfants Malades” in Paris between January 20...

Objective: The influence of androgens and estrogens on growth is complex, and understanding their relative roles is important for optimizing the treatment of children with various disorders of growth and puberty.Design: We examined the proportional roles of androgens and estrogens in the regulation of pubertal growth in boys with constitutional delay of growth and puberty (CDGP). The study compared 6-month low-dose intramuscular testoste...

Background: There is preliminary evidence that adrenal steroids other than cortisol may be valuable biomarkers for major depressive disorder (MDD). So far, studies have been conducted in adults only, and conclusions are limited, mainly due to small sample sizes. Therefore, the present study was intended to assess whether adrenal steroids (progesterone, 17-hydroxyprogesterone, 21-deoxycortisol, 11-deoxycortisol, cortisol, cortisone, deoxycorticosterone, cortico...

Congenital hypogonadotropic hypogonadism (CHH) is a rare condition caused by a dysfunction of the GnRH Axis. The clinical variability of the disease is accompanied by genetic heterogeneity. Indeed, more than 40 genes are implicated in the pathogenesis of this condition. The main goal of this present study was to characterize genetic defects in a large cohort of French CHH patients using a targeted NGS panel.Patients: a cohort of 120 unrelated patients (7...

Background/Aim: Sex hormones drive organizational and activational changes in craniofacial structures and various regions of the brain and establish a sexual dimorphism in the re-shaping of the brain and related structures during puberty. Although the evolutionary approach, which accepts the brain and related structures as secondary sex characteristics since they are target organs for sexual selection, increases awareness of the role of sex hormones in sex-spe...

Background: In 2013, Abreu et al identified loss-of function mutation in the MKRN3 gene of fifteen patients from five families with idiopathic central precocious puberty (iCPP), highlighting the implication of this maternally imprinted gene in this still poorly understood condition. Since this study, other mutations have been described and now represent the most common genetic cause of iCPP.Objective: The objective of th...