hrp0098p1-280 | Sex Endocrinology and Gonads 3 | ESPE2024

Validation Of A New Short Parent Reported Outcomes (PRO) Questionnaire For Boys With A Condition Affecting Sex Development (CSD)

Tseretopoulou Xanthippi , R. Ali Salma , Gardner Melissa , Flett Martyn , Lee Boma , O'Toole Stuart , Steven Mairi , E. Sandberg David , Ahmed S.Faisal

Background: To aid assessment of parent-reported quality of life outcomes (PRO) in routine clinical setting in young children with a condition affecting sex development, a short questionnaire (PRO-CSD) that includes a parent-proxy report (PPR) and a parent-self-report measure (PSR) has been recently developed and requires further validation. Methods: Parents of 98 boys with a median age of 2.9 yrs (range, 0.2,6.5) and me...

hrp0098p2-107 | Fat, Metabolism and Obesity | ESPE2024

Xq27.3-q28 Duplication Containing FMR1 Gene: Case Presentation and Literature Review of Familial X-linked Hypogonadism, Gynecomastia, Short Stature, Intellectual Disability and Obesity Syndrome

Ali Oktay Mehmet , Tuğçe Tunca Küçükali Elif , Kayhan Gülsüm , Döğer Esra , Orhun Çamurdan Mahmut , Bideci Aysun

Introduction: Syndromic obesities are characterized by malformations, dysmorphic features, and/or neurodevelopmental disorders. This paper reports the clinical characterization of a duplication showing familial transmission in the Xq27.3q28 region containing the FMR1 gene, presenting symptoms such as obesity, hypogonadism, gynecomastia, short stature, and intellectual disability.Case Presentation: A 17-year-old male pati...

hrp0098p2-179 | Growth and Syndromes | ESPE2024

An Uncommon Cause of Short Stature: 18q Deletion

Tuğçe Tunca Küçükali Elif , Ali Oktay Mehmet , Kayhan Gülsüm , Döğer Esra , Orhun Çamurdan Mahmut , Bideci Aysun

Introduction: 18q deletion is one of the rare causes of short stature, characterized by intellectual disability, short stature, hypotonia, hearing loss, and foot deformities. Patients with this condition are also found to have an increased susceptibility to autoimmune diseases, which can lead to associated endocrinopathies. Here, we present a case diagnosed with 18q deletion and followed in our clinic due to short stature.Case:</...

hrp0082p2-d3-483 | Hypoglycaemia | ESPE2014

Neurodevelopmental Outcomes in Early and Late Presenting Congenital Hyperinsulinism

Mohamed Zainaba , Nicholson Jacqueline , Zamir Imran , Butler Thomas , Rigby Lindsey , Bowden Louise , Murray Philip , Steele Caroline , Rao Padidela Raja Narender , Patel Leena , Cosgrove Karen , Clayton Peter , Dunne Mark , Banerjee Indraneel

Background: Hypoglycaemia due to congenital hyperinsulinism (CHI) usually presents early (E-CHI) in the neonatal period, but late presentation (age >1 month) (L-CHI) also occurs. Adverse neurodevelopment is well recognised in both early and late CHI, but differences between both groups are not known.Objective and hypotheses: We examined a cohort of children with E-CHI and L-CHI to test neurodevelopmental outcomes in mid-childhood.<p class="abstex...

hrp0095rfc2.3 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

The European Registries for Rare Bone and Mineral Conditions: Registering New Cases of Paediatric Rare Bone and Mineral Conditions Using an Electronic Reporting Tool

Luisa Priego Zurita Ana , Bryce Jillian , Alves Inês , Boarini Manila , Grasemann Corinna , Högler Wolfgang , Kassim Javaid M , Linglart Agnès , Mohnike Klaus , Mordenti Marina , Mortier Geert , Roos Marco , Sangiorgi Luca , Skarberg Rebecca , Soucek Ondrej , Faisal Ahmed S , Appelman-Dijkstra Natasha M

Introduction: The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) are closely linked to the European Reference Networks on Rare Bone Diseases (ERN BOND) and Rare Endocrine Conditions (Endo-ERN) and with its registry EuRRECa. It is open to all professionals involved in the care of individuals with rare bone and mineral conditions. EuRR-Bone offers an electronic reporting tool (e-REC) for capturing newly encountered cases without collecting ...

hrp0082p2-d2-548 | Puberty and Neuroendocrinology (1) | ESPE2014

Puberty in Children with Shunted Congenital Hydrocephalus with and without Myelomeningocele

Proos Lemm , Arnell Kai , Gustafsson Jan , Dahl Margareta

Background: Children with myelomeningocele (MMC) run an increased risk of developing early or precocious puberty (E/PP). In previous studies of such children we found that the incidence of E/PP was 52% in girls and 21% in boys and that E/PP was strongly associated with increased intracranial pressure perinatally. It is also known that the occurrence of hydrocephalus without MMC is associated with risk of E/PP.Objective and hypotheses: The aim was to stud...

hrp0089p1-p224 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

The ‘ExternalGenitaliaScore’ to Describe External Genitalia in Male and Female Infants: A Europeanmulticenter Validation Study

van der Straaten Saskia , Springer Alexander , Hebenstreit Doris , Zezic Aleksandra , Tonnhofer Ursula , Gawlik Aneta , Baumert Malgorzata , Szeliga Kamila , Debulpaep Sara , Desloovere An , Tack Lloyd , Smets Koen , Wasniewska Malgorzata , Corica Domenico , Calafiore Mariarosa Calafiore , Ljubicic Marie Lindhardt , Busch Alexander Siegfried , Juul Anders , Nordenstrom Anna , Sigurdsson Jon , Fluck Christa E , Haamberg Tanja , Graf Stefanie , Hannema Sabine E , Wolffenbuttel Katja P , Ahmed S Faisal , Cools Martine

Background: The ‘External Masculinization Score’ (EMS) is an objective method of scoring undervirilized genitalia in infants but may require further adaptation to capture the appearance of the genitalia more comprehensively across the phenotypic spectrum.Objective: To develop and validate a non-binary, standardized score that describes the range of appearance of external genitalia.Method: The external genitalia score (EGS...

hrp0082fc11.1 | Pituitary | ESPE2014

Abnormal Sonic Hedgehog Signalling in Adamantinomatous Craniopharyngiomas and its Association with CTNNB1/β-Catenin Mutations

Gomes Debora C , Jamra Soraya A , Leal Leticia F , Colli Leandro M , Juca Carlos E , Campanini Marina L , Oliveira Ricardo S , Martinelli Carlos E , Elias Paula C L , Saggioro Fabiano , Machado Helio R , Moreira Ayrton C , Serafini Luciano N , Castro Margaret , Antonini Sonir R

Background: The sonic hedgehog pathway (SHH) regulates CNS development and mutations or abnormal expression of the SHH pathway genes have been identified in epithelial tumors. SHH pathway interacts with Wnt/β-catenin signalling. To date, CTNNB1/β-catenin mutations are the sole molecular abnormality found in adamantinomatous craniopharyngiomas (ACPs).Objective and Hypotheses: To analyze the expression pattern of SHH pathway genes in ACPs and its...

hrp0084fc2.3 | Bone &amp; Mineral Metabolism | ESPE2015

High Success of a Next Generation Sequencing Panel for the Molecular Diagnosis of Rare Skeletal Dysplasias

Barreza Jimena , Rivera-Pedroza Carlos I , Sentchordi-Montane Lucia , Vallespin Elena , Montano Victoria E F , Mansilla Elena , Belinchon Alberta , Benito-Sanz Sara , del Pozo Angela , Ibanez Kristina , Gonzalez-Casado Isabel , Guillen-Navarro Encarna , Prieto Pablo , del Pozo Jaime Sanchez , Cruz-Rojo Jaime , Galan Enrique , Lapunzina Pablo , Garcia-Minaur Sixto , Santos-Simarro Fernando , Heath Karen E

Background: A total of 456 skeletal dysplasias have been classified by molecular, biochemical and/or radiological criteria, into 40 groups. Despite this, the precise, final diagnosis is often difficult due to the high phenotypic and genotypic variability.Objective: To improve the molecular and clinical diagnosis of skeletal dysplasias using a custom-designed next-generation sequencing (NGS) panel.Method: A total of 56 skeletal dysp...

hrp0084p2-406 | GH &amp; IGF | ESPE2015

Metabolic Health in Short Children Born Small for Gestational Age Treated with GH and GnRHa: Results of a Randomised, Dose-response Trial

van der Steen M , Lem A J , van der Kaay D C M , Waarde W M Bakker-van , van der Hulst F J P C M , Neijens F S , Noordam C , Odink R J , Oostdijk W , Schroor E J , Sulkers E J , Westerlaken C , Hokken-Koelega A C S

Background: Previously we showed that pubertal children born small for gestational age (SGA) with a poor adult height (AH) expectation can benefit from treatment with GH 1 mg/m2 per day (~0.033 mg/kg per day) in combination with 2 years of GnRH analogue (GnRHa) and even more so with a double GH dose. GnRHa treatment is thought to have negative effects on body composition and blood pressure. Long-term effects and GH-dose effects on metabolic health in children treate...