hrp0098p3-3 | Adrenals and HPA Axis | ESPE2024

Towards Universal Congenital Adrenal Hyperplasia Newborn Screening in Indonesia: Knowledge, Perspectives and Experience of Pediatric Residents and Pediatricians

Utari Agustini , Arnetta Puteri Helena , Nur Insani Annisa , Herqutanto Herqutanto , Fadiana Ghaisani , Stafford Diane , Chanoine Jean-Pierre , Pulungan Aman

Introduction: As Indonesia begins implementing newborn screening (NBS) for congenital adrenal hyperplasia (CAH), pediatricians must be prepared to promptly and correctly diagnose and manage CAH. The aimof this study was to explore the knowledge, perspectives and experience of Indonesian pediatricians and pediatric residents regarding CAH.Methods: A cross-sectional electronic survey via Google Form was disseminated during...

hrp0098p3-4 | Adrenals and HPA Axis | ESPE2024

Bridging Gaps in Congenital Adrenal Hyperplasia Care: Insights from General Practitioners' Knowledge, Attitudes, and Experiences in Indonesia

Arnetta Puteri Helena , Nur Insani Annisa , Herqutanto Herqutanto , Fadiana Ghaisani , Stafford Diane , Chanoine Jean-Pierre , Utari Agustini , Pulungan Aman

Introduction: General practitioners (GP) are often the first point of contact for patients presenting with symptoms of congenital adrenal hyperplasia (CAH). With a limited number of pediatricians and pediatric endocrinologists as well as the upcoming universal implementation of CAH newborn screening (NBS) in Indonesia, the role of GPs in the diagnosis and emergency management of CAH cannot be overstated. This is the first study to explore the knowledge, attitu...

hrp0095p1-411 | Adrenals and HPA Axis | ESPE2022

Prevalence and Incidence of Congenital Adrenal Hyperplasia in Denmark – a nationwide cohort study

Berglund Agnethe , Juul Ornstrup Marie , Lind-Holst Marie , Bækvad-Hansen Marie , Duno Morten , Juul Anders , Borch Luise , Jørgensen Niels , M. Main Kathrina , Hansen Dorte , Højbjerg Gravholt Claus

Aim: Increased clinical attention toward less severe cases of congenital adrenal hyperplasia (CAH) may affect both incidence and prevalence. In this nationwide population-based cohort study, we estimate incidence, prevalence, and age at diagnosis of CAH according to subtype and sex.Patients and Methods: Individuals registered with a diagnosis of CAH during 1977 to 2018 were identified in the Danish National Patient Regis...

hrp0086fc3.2 | Pituitary | ESPE2016

Spectrum of LHX4 Mutations in a Cohort of 510 Patients with Hypopituitarism

Cohen Enzo , Collot Nathalie , Rose Sophie , Dastot Florence , Duquesnoy Philippe , Copin Bruno , Bertrand Anne-Marie , Brioude Frederic , Hilal Latifa , Leger Juliane , Maghnie Mohamad , Oliver-Petit Isabelle , Polak Michel , Touraine Philippe , Sobrier Marie-Laure , Amselem Serge , Legendre Marie

Background: Mutations in the gene encoding LHX4, a homeodomain-containing factor with two LIM domains, are responsible for dominant hypopituitarisms with incomplete penetrance and variable expressivity. To date, only 14 unambiguous LHX4 mutations have been reported. Among those cases, 12 had an absent or ectopic posterior pituitary (EPP) and/or an abnormal sella turcica.Objective and hypotheses: To i) assess the contribution of LHX4 in combined pituitary...

hrp0084p1-52 | Diabetes | ESPE2015

A Randomised Trial of the Effects of Perinatal Education of Overweight Pregnant Women to Prevent Childhood Overweight: The ETOIG Study

Parat Sophie , Cosson Emmanuel , Baptiste Amandine , Tauber Marie-Therese , Valensi Paul , Bertrand Anne-Marie , Dabbas Myriam , Elie Caroline , Lorenzini Francoise , Negre Veronique

Background: Early-life risk factors of childhood obesity include maternal obesity; smoking, diabetes and high weight gain during pregnancy for the mother; short duration of breastfeeding and poor quality of early feeding in the infants. Perinatal life thus may be a good period for primary prevention.Objective and hypotheses: We aimed to evaluate whether perinatal education of overweight pregnant women would reduce childhood overweight.<p class="abste...

hrp0095p1-235 | Diabetes and Insulin | ESPE2022

Etiology-based diagnosis of pediatric patients with atypical diabetes using routine and omic-based phenotyping and genotyping: results from the GENEPEDIAB study

Welsch Sophie , Gallo Paola , Beckers Dominique , Lebrethon Marie-Christine , Mouraux Thierry , Seret Nicole , Lysy Philippe

Objective: To provide etiology-based diagnostics to pediatric patients with diabetes in Belgium using routine clinical phenotyping and thorough genotyping.Methods: A Belgian GENEPEDIAB study consortium was created to screen, using routine diagnostic tools, for monogenic forms of diabetes in pediatric patients followed in convention centers for type 1 or type 2 diabetes, while presenting atypical biological and clinical f...

hrp0092p1-337 | Fat, Metabolism and Obesity (2) | ESPE2019

How does Clusters of Parental Characteristics Influences Offspring Adiposity: A Prospective Study

Ybarra Marina , Meng Lingrui , Zaihra Tasneem , Mathieu Marie-Ève , Barnett Tracie , Henderson Mélanie

Introduction: Childhood obesity rates have increased exponentially in the past three decades. Parental characteristics, such as weight status, physical activity (PA), education and smoking habits have been identified individually as being potential determinants of offspring obesity. However, no prospective studies have examined the joint impact of parental lifestyle habits on their offspring's adiposity. We identified clusters of parental characteristics, ...

hrp0092p1-419 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Premature Ovarian Insufficiency in Women after Treatment for Childhoodcancer is a Risk Factor for Metabolic Syndrome

Netterlid Axel , Mörse Helena , Giwercman Aleksander , Henic Emir , Erfurth Eva-Marie , Elfving Maria

Background: Childhood cancer survivors (CSS) are at risk for several late effects, among them increased risk of metabolic syndrome (MetS). We wanted to study if female hypogonadism was a risk factor for MetS.Method: This study included 167 female CCS, mean age 34.3 (19.3-57.8) years in the South region of Sweden and 164 matched controls, mean age 35.0 (19.3–58.0). The female CCS were diagnosed at mean age 8.9 (0.1-1...

hrp0089rfc8.3 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

Pharmacological Treatment of Adolescent Polycystic Ovary Syndrome (PCOS) According to the 2018 International Evidence-Based Guideline for the Assessment and Management of PCOS

Pena Alexia , Witchel Selma , Hoeger Kathy , Oberfield Sharon , Vogiatzi Maria , Misso Marie , Teede Helena

The treatment of Polycystic Ovary Syndrome (PCOS) during adolescence is controversial. The aim of the international evidence-based guideline was to promote accurate diagnosis, optimal consistent care, prevention of complications and to improve patient experience and health outcomes. Extensive international health professional and patient engagement informed the priorities and core outcomes for the guideline. Internationally nominated panels including women with PCOS and a mult...

hrp0089p1-p046 | Diabetes &amp; Insulin P1 | ESPE2018

Phenotypes of Diabetes and Determinants of Glycemic Control and Diabetes Complications in Haitian Youth Living in Haiti

Dumas Marie-Pier , Sainvil Michele , Altenor Kelty , von Oettingen Julia Elisabeth

Background: In non-Caucasian youth residing in low-income settings, risk of mortality and rates of diabetes complications are substantially higher and clinical phenotypes may be distinct.Objectives: To assess the clinical presentation, glycemic control, and chronic complications of diabetes in Haitian youth residing in Haiti.Methods: Retrospective review between 01/2013–03/2018 of youth 0-25 years with diabetes followed at a c...