hrp0092rfc3.1 | Multi-system Endocrine Disorders | ESPE2019

European Registries For Rare Endocrine Conditions (EuRRECa): Results From The Pilot Phase Of The Platform For e-Reporting Of Rare Endocrine Conditions (e-REC)

Ali Salma , Bryce Jillian , Muir Tom , Okure Akanimo , Cools Martine , Danne Thomas , Dattani Mehul , Dekkers Olaf , Hiort Olaf , Linglart Agnès , Netchine Irène , Nordenström Anna , Patócs Attila , Pereira Alberto , Persani Luca , Reisch Nicole , Smyth Arlene , Šumnik Zdeněk , Taruscio Domenica , Visser W. Edward , Ahmed S.Faisal

Background: EuRRECa (European Registries for Rare Endocrine Conditions) is a new project incorporating the development of a core endocrine registry and the development of an e-reporting programme for rare endocrine conditions (e-REC) that are covered within Endo-ERN (https://eurreca.net/e-rec/).Methods: 24 Endo-ERN centres within 12 countries participated in a pilot phase of e-REC...

hrp0092rfc6.4 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Targeted Molecular Genetic Diagnosis by Next Generation Sequence Analysis Method and Investigation of Responsible Candidate Genes in Patients with Osteogenesis Imperfecta

Özen Samim , Gökşen Damla , Işik Esra , Gürkan Ferda Evin , Onay Hüseyin , Akgün Bilçag , Ata Aysun , Atik Tahir , Özkinay Ferda , Darcan Şükran , Çogulu Özgür

Introduction: The aim of this study was to investigate the molecular genetic etiology and to determine the relationship between genotype and phenotype with targeted next-generation sequence (NGS)analysis.Method: Patients with a clinical diagnosis of OI were included in the study. Initially, mutations in COL1A1 and COL1A2 genes which are known to be most responsible for OI were investigated. In the second step, a targeted...

hrp0092p2-69 | Diabetes and Insulin | ESPE2019

Gluten-free Diet in Children with Recent Onset Type 1 Diabetes is Associated with Slower Pace of C-peptide Decline, Better Metabolic Control and Lower Insulin Requirement at 12 months

Neuman Vít , Pruhová Štepánka , Kulich Michal , Funda David P. , Koloušková Stanislava , Vosáhlo Jan , Romanová Martina , Petruželková Lenka , Obermannová Barbora , Cinek Ondrej , Šumník Zdenek

Objectives: Data on the role of gluten in type 1 diabetes (T1D) pathogenesis are scarce. We aimed to test whether gluten-free diet (GFD) can decelerate the decline in beta-cell capacity in newly diagnosed non-coeliac T1D children.Methods: Forty six children (aged 10.2±3.3 years) were recruited into this non-randomized self-selected intervention trial: 26 started with GFD, whereas 20 remained on standard diet. Main o...

hrp0086p1-p352 | Gonads & DSD P1 | ESPE2016

A Multicenter Study on Long-Term Outcomes in 56 Males with 45,X/46,XY Mosaicism

Johansen Marie Lindhardt , Acerini Carlo , Andrade Juliana , Balsamo Antonio , Cools Martine , Cuccaro Rieko Tadokoro , Darendeliler Feyza , Fluck Christa E , Grinspon Romina , Guran Tulay , Hannema Sabine , Lucas-Herald Angela K , Hiort Olaf , Lichiardopol Corina , Ortolano Rita , Riedl Stefan , Ahmed S Faisal , Juul Anders

Background: 45,X/46,XY mosaicism is a rare karyotype with a broad phenotypic variation. In patients with a male or predominantly male phenotype, impaired genital development and statural growth have been observed, but little is known about long-term outcomes. Larger multicenter studies are needed.Objective and hypotheses: The aim of this study is to investigate long-term outcomes, namely gonadal function, growth and co-morbidities, in a larger group of m...

hrp0084p1-58 | DSD | ESPE2015

Long-term Endocrine Outcome in Men with Partial Androgen Insensitivity Syndrome

Lucas-Herald Angela K , Ahmed S Faisal , Bertelloni Silvano , Juul Anders , Bryce Jillian , Jiang Jipu , Rodie Martina , Johansen Marie L , Hiort Olaf , Holterhus Paul-Martin , Cools Martine , Desloovere An , Weintrob Naomi , Hannema Sabine E , Guran Tulay , Darendeliler Feyzad , Nordenstrom Anna , Hughes Ieuan

Background: Partial Androgen insensitivity syndrome (PAIS) is a rare condition which is associated with a variable phenotype. To date, there are limited data reporting long-term endocrine outcome for this condition.Aims: To determine the outcomes and clinical characteristics for 46, XY males with PAIS, using information from the International DSD (I-DSD) Registry and its clinical users.Methods: The I-DSD Registry and its users were...

hrp0084p3-1233 | Turner | ESPE2015

Growth Curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group

Darendeliler Feyza , Bereket Abdullah , Bas Firdevs , Bundak Ruveyde , Sari Erkan , Aydin Banu K , Darcan Sukran , Dundar Bumin , Buyukinan Muammer , Kara Cengiz , Mazicioglu Mumtaz M , Adal Erdal , Akinci Aysehan , Atabek Mehmet E , Demirel Fatma , Celik Nurullah , Ozkan Behzat , Simsek Enver , Cinaz Peyami , Group Turner Syndrome Study

Background: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population specific growth charts for TS.Objective and hypotheses: Considering national and ethnic differences, we undertook this multicentered collaborative study to construct growth charts and reference values for height, weight, and BMI from birth to adulthood for spontaneous growth of Turkish girls w...

hrp0084p3-1243 | Turner | ESPE2015

Anthropometric Findings from Birth to Adulthood in Turkish Girls with Turner Syndrome and Association with Karyotpye Distribution

Sari Erkan , Bereket Abdullah , Yesilkaya Ediz , Bas Firdevs , Bundak Ruveyde , Aydin Banu K , Darcan Sukran , Dundar Bumin , Buyukinan Muammer , Kara Cengiz , Adal Erdal , Akinci Aysehan , Atabek Mehmet E , Demirel Fatma , Celik Nurullah , Ozkan Behzat , Ozhan Bayram , Orbak Zerrin , Ercan Oya , Study Group Turner Syndrome

Background: Turner syndrome (TS) can manifest with various clinical features depending on the karyotype and the genetic background of affected subjects.Objective and hypotheses: The aim of this study was to evaluate growth parameters from birth to adulthood in girls with TS in a cross-sectional study.Method: A total of 842 patients, with an age of diagnosis ranging from birth to 18 years followed-up between 1984 and 2014, from 35 d...

hrp0094p1-48 | Sex Endocrinology and Gonads A | ESPE2021

Gonadal Outcome in 17beta-HSD deficiency and 5alpha-reductase deficiency

Boogers Lidewij S , Bruggenwirth Hennie T , van Bever Yolande , Hersmus Remko , Bryce Jilian , Ahmed S Faisal , Lucas-Herald Angela K , Baronio Federico , Cools Martine , Ellaithi Mona , Globa Evgenia , Guran Tulay , Tosun Busra Gurpinar , Hiort Olaf , Holterhus Paul-Martin , McElreavey Ken , Niedziela Marek , Stancampiano Marianna Rita , Wolffenbuttel Katja P , Oosterhuis J Wolter , Looijenga Leendert HJ , Hannema Sabine E ,

Introduction: 5α-reductase type 2 deficiency (5α--RD) and 17β-HSD type 3 deficiency (17β-HSDD) are rare differences/disorders of sex development (DSD) in which impairment of steroidogenic enzymes causes undervirilisation in patients with a 46,XY genotype. We aim to enlarge the limited knowledge on long-term gonadal function and gonadal pathology in these conditions.Methods: Data on phenotype, laborato...

hrp0094p2-423 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Diagnostic dilemma in a patient with central precocious puberty: Ovarian steroid cell tumor

Balki Hanife Gül , Ata Aysun , Karayazılı Ayşe Merve , Serin Gürdeniz , Koç Gonca , Özdemir Necmettin , Çelik Ahmet , Özen Samim , Gökşen Damla , Darcan Şükran

Ovarian steroid cell tumors (OSCT) are rare sex cord stromal tumors of the ovary and comprise <0.1% of all ovarian tumors. We herein report a case of an OSCT in a 9 year old girl patient who presented with central puberty preocious unresponsive to gonadotrophine relasing hormon analog (GnRH) therapy. A 9 year old girl presented with breast development noticed 4 months ago and menarche 3 months ago. Her height was 141,5 cm (+1,3 SDS), body weight was 35.4 kg (+0.9 SDS) and...

hrp0097fc2.2 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

First Results of the Global ALPL Gene Variant Classification Project

R Farman Mariam , Rehder Catherine , Malli Theodora , Rockman-Greenberg Cheryl , Dahir Kathryn , Ángel Martos-Moreno Gabriel , Linglart Agnès , Ozono Keiichi , Seefried Lothar , del Angel Guillermo , Högler Florian , Barbazza Francesca , K John Lisa , M. A. Delana Mudiyanselage Sewmi , Burner Nading Erica , Huggins Erin , T Rush Eric , El-Gazzar Ahmed , S Kishnani Priya , Webersinke Gerald , Högler Wolfgang

Background: Hypophosphatasia (HPP) is an inherited multisystem disorder predominantly affecting the mineralization of bones and teeth. HPP is caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase. A major challenge in diagnosing HPP is interpreting variants in ALPL classified as variants of uncertain significance (VUS) according to ACMG/AMP criteria, creating uncertainty in patients and treating physicians resulting in d...