ESPE Abstracts

Background: Rokineticin receptors (PROKR1 and PROKR2) belong to the family of G protein-coupled receptors. Bi-or mono allelic mutations in PROKR2 gene have been identified in Kallmann syndrome which is characterized by hypogonadotropic hypogonadism and anosmia/hyposmia. Recently, PROKR2 mutations were reported in patients with multiple pituitary hormone (MPHD) and growth hormone deficiencies (GHD), suggesting a potential role for the PROK2 p...

Objective: Allostatic load (AL) refers to the physiological response that occurs in chronic stress burden, Excessive weight gain is an important source of physiological stress promoting chronic low-inflammation state detrimental for health. We estimated AL score among a pediatric population, in order to define a correlation between cumulative biological dysregulation and excess weight.Methods: We enrolled 164 children an...

Encouraged by unimolecular dual incretin co-agonists (GLP1/GIP) to enhance glycemic efficacy (Finan et al. 2013, Sci Transl Med) and GLP1/glucagon co-agonists to enhance weight loss efficacy (Day et al. 2009, Nat Chem Biol) and to restore diet-induced leptin sensitivity (Clemmensen et al. 2014, Diabetes), we recently developed the first tri-agonist (GLP1/GIP/glucagon) for the treatment of metabolic disorders (Finan et al. 2014, Nat Med). Importantly, this concerted triple agon...

Sex-steroid hormones such as testosterone and estradiol play a key role in sexual differentiation during gestation but exert also strong effects on the body and the brain during puberty or even in adulthood. In addition, influences on cognition and emotional processing are frequently reported. The investigations of transgender people undergoing cross-sex hormone therapy provide a unique model for studying those effects on gray and white matter brain structure in vivo by using ...

Background: Vitamin D Dependent Rickets Type IA(VDDR1a) is an autosomal recessive disorder characterized by defects in the biosynthesis of its active form 1,25 dihydroxyvitamin D due to the mutations in the CYP27B1 gene encoding for the enzyme 1α-hydroxylase.Objective and hypotheses: To evaluatethe clinical characteristics, molecular genetics aetiology and long-term outcome of a large nationwide cohort of VDDR-Ia f...

Background: Steroidogenic Factor 1 (NR5A1/SF-1) is essential for the development and function of human sex and steroid organs. Variants of SF-1 lead to a broad spectrum of phenotypes including adrenal insufficiency and differences of sex development (DSD), but data on the whole picture of phenotypes in individuals with SF-1 variants are currently lacking. We aim to investigate the phenotype of individuals with SF-1 variants in a large interna...

BMP4, a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily, is involved in the embryonic development of various organ and tissues including the cranio-facial structures, olfactory placode, pituitary, eyes, heart, and kidneys. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. BMP4 plays an important role in the embryonic development of the GnRH neurons ...

Introduction and Aims: Metabolic syndrome (METs) has different complications such as cardiovascular diseases and diabetes type 2. There is no uniform definition for METs. In this study, we aimed to define METs from different viewpoints to determine the most appropriate method that could be used for early METs diagnosis in general population and treat them immediately.Materials and Methods: This study was an analytic cros...

Obesity—defined as excess fat mass which impacts on physical health—is a complex and multifactorial disease where numerous environmental factors (overeating and/or reduced physical activity) act in concert with genetic factors. Understanding molecular mechanisms of obesity has rapidly improved in recent years due to the development of faster, more specific genetic screening tools (1). Rare genetic obesities are distinguished from more-common polygenic obesities where...

Childhood onset of growth hormone deficiency (GHD) is a clinically heterogeneous condition and defining its cause is important for diagnostics and treatment. The most common genes implicated in the genetic etiology of growth hormone deficiency (GHD) are GH1 (MIM: 139250), encoding growth hormone (GH), and GHRHR (MIM: 139191), encoding the receptor for GHRH. GHD may also result from mutations in genes that encode transcription factors involved in pituitary dev...