hrp0094p2-235 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) | ESPE2021

A Selective Nonpeptide Somatostatin Receptor 5 (SST5) Agonist Effectively Decreases Insulin Secretion in a KATPHI Mouse Model and in Human HI Islets

Juliana Christine , Chai Jinghua , Arroyo Pablo , Rico-Bautista Elizabeth , Betz Stephen , De Leon Diva ,

Inactivating mutations of ß-cell KATP channels cause the most common and severe form of congenital hyperinsulinism (HI), a ß-cell disorder that results in dysregulated insulin secretion and persistent hypoglycemia. Children with KATPHI are typically unresponsive to diazoxide, the only FDA-approved drug for HI. Octreotide, an SST2-selective agonist peptide that inhibits insulin secretion, is used as second line therapy, but poor efficacy and SST2...

hrp0097rfc10.3 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) & Multisystem endocrine disorders | ESPE2023

Non-coding Variants in HK1 Account for 5% of Cases of Congenital Hyperinsulinism Without an Identified Genetic Cause

Rosenfeld Elizabeth , E. Boodhansingh Kara , A. Stanley Charles , Ganguly Arupa , D. De Leon Diva

Background: The genetic etiology of non-syndromic HI remains unknown in over 20% of all cases, and over 50% of diazoxide-responsive cases. Non-coding variants in HK1 have been suggested to cause HI by linkage-analysis (Pinney et al., 2008). More recently, variants within a regulatory region of HK1 intron 2 were reported in 17 individuals with HI (Wakeling et al., 2022). These variants have been proposed to cause HI by disrup...

hrp0095fc7.6 | Growth and Syndromes | ESPE2022

The Multifaceted Burden Experienced by Caregivers of Individuals With Bardet-Biedl Syndrome: Findings from the CARE-BBS Study

Forsythe Elizabeth , Mallya Usha M. , Yang Min , Caroline , Lynn Mary , Grea Ali , Po Jeremy , Haqq Andrea M.

Background: Caregivers of patients with Bardet Biedl syndrome (BBS) face substantial burden from highly prevalent features of the disease, namely hyperphagia, or uncontrollable hunger, and obesity. However, the burden experienced by caregivers of individuals with BBS is not well characterized.Methods: A multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to quantify the burden experien...

hrp0095t8 | Section | ESPE2022

Caregiver Burden in Bardet-Biedl Syndrome: a Survey of Obesity and Hyperphagia Impacts

Forsythe Elizabeth , G. Mallya Usha , Yang Min , Huber Caroline , Lynn Cala Mary , Greatsinger Ali , Pomeroy Jeremy , M. Haqq Andrea

Background: Hyperphagia, or pathologic insatiable hunger, and early-onset obesity are prevalent clinical features of Bardet-Biedl syndrome (BBS), a rare genetic disorder. While hyperphagia and obesity have broad impacts on individuals with BBS and their caregivers, the extent of this burden is not well characterized.Methods: This multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to q...

hrp0089p3-p126 | Fat, Metabolism and Obesity P3 | ESPE2018

Tracing the Effect of the Melanocortin-4 Receptor Pathway in Obesity: Study Design and Methodology of the TEMPO Registry

Eneli Ihuoma , Xu Jinyu , Fiedorek Fred , Webster Matthew , McCagg Amy , Ayers Kristin , Ploeg Lex Van Der , Garfield Alastair , Estrada Elizabeth

Introduction: The hypothalamic melanocortin-4 receptor (MC4R) pathway plays a vital role in energy balance. Genetic defects in the MC4R pathway may result in severe early onset obesity.Objective: The TEMPO registry (NCT03479437) aims to identify and enroll approximately 1000 participants with rare genetic forms of obesity that are potentially related to key genes, upstream or downstream, of the MC4R. In addition, the TEMPO registry will evaluate the burd...

hrp0089p2-p353 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Young Transgender People’s Attitudes to Fertility Preservation and Practice

Monti Elena , Walton-Betancourth Sandra , Wafa Raheala , Roberts Alice , Kleczewski Sara , Adu-Gyamfi Kirpal , Perkins Elaine , Williamson Elizabeth , Butler Gary

Background: GnRH analogue and subsequent oestradiol treatments are indicated to alleviate gender dysphoriain adolescent male to female young people (MtF; transgirls). Side effects include impairments in gonadal histology that may cause infertility or biological sterility. Current guidelines encourage professionals to address potential infertility risk and fertility preservation options with transgender youth and their families before starting these treatments.<p class="abs...

hrp0094p1-32 | Fat, Metabolism and Obesity A | ESPE2021

Sex hormones drive changes in lipoprotein profiles in adolescents; early implications for cardiovascular disease risk

Robinson George , Peng Junjie , Peckham Hannah , Radziszewska Anna , Butler Gary , Pineda-Torra Ines , Jury Elizabeth , Ciurtin Coziana ,

Prior to menopause, it is known that women have a lower risk of cardiovascular disease (CVD) and coronary heart disease compared to age-matched men; it is reported that women have around half the CVD risk and almost a 10-year delay in first myocardial infarction event compared to men. Sex differences in serum lipids could contribute to CVD risk through driving atherosclerosis, the buildup of lipids in the sub-endothelial intimal layer of medium-sized to large arteries. We hypo...

hrp0086p1-p37 | Adrenal P1 | ESPE2016

DNA Methylation Signatures Associated with Prenatal Dexamethasone Treatment

Karlsson Leif , Barbaro Michela , Gomez-Cabrero David , Lajic Svetlana

Background: Prenatal treatment with dexamethasone (DEX) has been used since the mid 80’s to minimize virilisation of girls with congenital adrenal hyperplasia. Long-term data on treatment safety and health outcome are still limited. It has been shown in animal models that prenatal dexamethasone treatment affects DNA methylation signatures as well as metabolism and behavior. We have previously shown that DEX affects working memory in children who were treated with DEX duri...

hrp0095p1-487 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Early-Life Exposure to Phthalates in A Population of Infants from The North of Italy: Characterization and Time Trends

Lucaccioni Laura , Righi Elena , Trevisani Viola , Passini Erica , Palandri Lucia , Bruzzi Patrizia , Predieri Barbara , Iughetti Lorenzo

Background: Phthalates are ubiquitous environmental contaminants and endocrine-disrupting chemicals (EDCs). Nowadays, they are considered reproductive toxicants and in-utero exposure is well documented, although evidence of early life exposure is scarce, and needs to be described. Aim of this study is to assess phthalate exposure and its changes over the first months of life in a cohort of healthy full term infants and their mothers from a restricted area of t...

hrp0095p1-349 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Use of Urinary Gonadotropins for The Evaluation of the Minipubertal Profile in Term Newborns and Infants Within The First Six Months of Age

Lucaccioni Laura , Trevisani Viola , Passini Erica , Palandri Lucia , Bruzzi Patrizia , Predieri Barbara , Righi Elena , Iughetti Lorenzo

Background: The activation of the hypothalamus-pituitary-gonadal (HPG) axis during the first months both in males(M) and females(F) is named as minipuberty. Urinary gonadotropins (uGn) represent an unexpensive and non-invasive method of assessing pubertal development and they have recently been used also for studying minipuberty.Aims of the study are: 1) to describe the urinary hormonal pattern (uLH, uFSH, testosterone – uT, oestra...