hrp0092rfc3.2 | Multi-system Endocrine Disorders | ESPE2019

Factors Affecting Loss to Follow-Up for Patients with Chronic Endocrine Conditions During the Pediatric Period: A Cohort Study at a Reference Center for Rare Diseases

Atger-Lallier Laura , Guilmin-Crepon Sophie , Boizeau Priscilla , Zenaty Delphine , Simon Dominique , Paulsen Anne , Martinerie Laetitia , Storey Caroline , Carel Jean-Claude , Leger Juliane

Introduction: Most patients with endocrine diseases diagnosed during childhood require long-term continuity of care. A lack of regular medical follow-up visits may be associated with impaired long-term health outcomes, with greater risks of morbidity and mortality. The importance and challenges of the transition from pediatric to adult healthcare are well recognized, but few studies have considered loss to follow-up during pediatric care. We investigated the p...

hrp0092t15 | Top 20 Poster | ESPE2019

Intestinal Microbiota Development Differs Between Pubertal Boys and Girls

Kallio Sampo , Korpela Katri , de Vos Willem , Hero Matti , Kaarina Kukkonen Anna , Miettinen Päivi , Salonen Anne , Savilahti Erkki , Suutela Maria , Tarkkanen Annika , Raivio Taneli , Kuitunen Mikael

Introduction: The human fecal microbiota is known to shift in composition during adolescence, but whether fecal microbiota is associated with timing of sexual maturation is unknown. In mice, the change in the composition of fecal microbiota during puberty appears to be sex-specific and associate with changes in testosterone. We investigated the association between intestinal microbiota and pubertal timing in adolescents.Subjects ...

hrp0092p1-213 | GH and IGFs (1) | ESPE2019

Determinants of Final Height in Patients Born Small for Gestational Age Treated with Recombinant Growth Hormone

Adler Elodie , Lambert Anne-sophie , Bouvattier Claire , Teinturier Cécile , Bougnères Pierre , Rodrigue Danielle , Rothbuhler Anya , De Boissieu Paul , Linglart Agnès

Introduction: About 15% of children born small for gestational age (SGA) do not reach final height within normal range. Recombinant human growth Hormone (rhGH) has shown to be effective in catching up growth velocity and height in children born SGA.The objective of our study is to identify the predictive factors of final height in children born SGA treated with rhGH.Materials and Methods: Monocentric, retrospective s...

hrp0092p1-261 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Long-Term Urological and Psychosexual Outcome of Men Born with Hypospadias

Tack Lloyd , Van Hoecke Eline , Springer Alexander , Riedl Stefan , Tonnhofer Ursula , Weninger Julia , Hiess Manuela , Van Laecke Erik , Hoebeke Piet , Spinoit Anne-Françoise , Cools Martine

Introduction: According to EAU's guidelines, hypospadias (HS) repair is best performed between 6 and 18 months of age. Little is known about the long-term patient satisfaction or urological outcome following HS surgery.Aims: To examine the psychosexual and urological outcome of young adult men (16-21 years old) born with all forms of non-syndromic HS as compared to healthy controls, as well as patient and parental sa...

hrp0092p1-271 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Endocrine and Reproductive Outcome of Men Born with Various Degrees of Hypospadias

Tack Lloyd , Springer Alexander , Mahmoud Ahmed , Tilleman Kelly , Riedl Stefan , Tonnhofer Ursula , Hiess Manuela , Weninger Julia , Van Laecke Erik , Hoebeke Piet , Spinoit Anne-Françoise , Cools Martine

Introduction: Limited, small-scale studies have revealed that men with proximal hypospadias (HS) or with other signs of undermasculinisation (i.e. complex HS) are at risk of reduced fertility and/or impaired testicular hormone synthesis. However, the extent of this phenomenon and if milder forms of isolated HS are also affected, remains unclear.Aims: To explore reproductive hormones and semen quality of young men (16-21 ...

hrp0092lb-4 | Late Breaking Posters | ESPE2019

Resistance to Thyroid Hormone Alpha Associated with Early-Onset Severe NASH

Pautasso Valentina , Dumant-Forrest Clémentine , Guerrot Anne-Marie , Fraissinet François , Savagner Frédérique , Castanet Mireille

Introduction: Resistance to thyroid hormone alpha (RTHα) is characterised by tissue-specific hypothyroidism associated with barely normal thyroid function tests. Clinical features include dysmorphic facies, skeletal dysplasia, growth retardation, constipation, dyspraxia and intellectual deficit. Hormonal assessment often shows decreased/low-normal free thyroxine (fT4) and increased/high-normal free triiodothyronine (fT3) concentrations, resulting in a low...

hrp0089rfc9.5 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2018

Non-Isolated Central Precocious Puberty: Prevalence of Brain Lesions and Other Associated Disorders

Wannes Selmen , El Maleh Monique , De Roux Nicolas , Zenaty Delphine , Simon Dominique , Martinerie Laetitia , Storey Caroline , Gelwane Georges , Paulsen Anne , Ecosse Emmanuel , Jean-claude Carel , Juliane Leger

Background: Non-idiopathic central precocious puberty (CPP) is caused by acquired or congenital hypothalamic lesions visible on magnetic resonance imaging (MRI), or associated with various complex genetic and/or syndromic disorders without visible lesions on MRI. We investigated the different types and prevalences of non-isolated CPP phenotypes in a large group of consecutive patients with CPP.Methods: This observational cohort study included all patient...

hrp0089rfc10.6 | Late Breaking | ESPE2018

Effect of the Current Treatment of X-Linked Hypophosphatemia During Growth on the Development of Osteoarticular Lesions in the Hyp Mouse Model

Cauliez Axelle , Faraji-Bellee Carole-Anne , Salmon Benjamin , Fogel Olivier , Benoit Aurelie , Schinke Thorsten , Miceli Corinne , Briot Karine , Linglart Agnes , Chaussain Catherine , Bardet Claire

Mineralization defects and paradoxical mineralizing enthesopathies are hallmarks of X-linked Hypophosphatemia (XLH), a rare skeletal disease caused by inactivating mutations in the PHEX gene (Phosphate-regulating endopeptidase homolog, X-linked). The current medical treatment, which consist in oral phosphorus supplementation and active vitamin D analogues, aimed at counteracting consequences of FGF23 excess and is commonly prescribed from early childhood to the end of...

hrp0089p1-p040 | Diabetes & Insulin P1 | ESPE2018

Poor Metabolic Control in Children and Adolescents with Type 1 Diabetes and Psychiatric Comorbidity

Sildorf Stine M , Breinegaard Nina , Lindkvist Emilie B , Tolstrup Janne S , Boisen Kirsten A , Teilmann Grete K , Skovgaard Anne Mette , Svensson Jannet

Objective: Type 1 diabetes in childhood is associated with an increased risk of psychiatric morbidities. We investigated predictors and diabetes outcomes in a pediatric population with psychiatric comorbidities.Research Design and Methods: Nationwide pediatric registerbased study. Data from the Danish national childhood diabetes register (DanDiabKids) and The National Patient Register were collected (1996–2015) for this population-based study. We us...

hrp0089p1-p248 | Thyroid P1 | ESPE2018

Early Determinants of Thyroid Function Outcome in Children with Congenital Hypothyroidism and a Normally Located Thyroid Gland: A Regional Cohort Study

Saba Carole , Guilmin-Crepon Sophie , Zenaty Delphine , Martinerie Laetitia , Paulsen Anne , Simon Dominique , Santos Sophie Dos , Haignere Jeremy , Mohamed Damir , Jean-Claude Carel , Juliane Leger

Background: An increase in the incidence of congenital hypothyroidism (CH) with a normally located gland has been reported worldwide. Affected individuals display transient or permanent CH during follow-up in childhood. We aimed to determine the prevalence of transient CH and to assess the possibility of distinguishing between transient and permanent CH in early infancy.Methods: This observational cohort study included all patients identified by systemat...