hrp0086wg3.1 | ESPE Turner Syndrome Working Group (TS) | ESPE2016

Spontaneous Fertility and Pregnancy Outcomes in Turner Syndrome

Christin-Maitre Sophie

Background: Turner syndrome (TS) occurs in 1/2000 newborn girls. Primary ovarian insufficiency (POI), due to an increased follicular apoptosis, is a classic feature of TS. It occurs in more than 95% of TS patients. Therefore, oocyte donation is often the only option for women desiring a pregnancy.Objective and hypotheses: Few studies have reported the outcome of spontaneous pregnancies (SP) in TS patients.Method: We evaluated the p...

hrp0086p1-p224 | Diabetes P1 | ESPE2016

Space-time Environmental Associations in Childhood Type 1 Diabetes (T1D). A Case-control Geographical Approach in the ISIS-Diab Cohort

Bougneres Pierre , Le Fur Sophie , Valtat Sophie , Valleron Alain-Jacques , ISIS-Diab Network Network

Background: T1D concordance in MZ twins being ~40%, non-heritable factors play a major causal role in this autoimmune disease. T1D has recently increased in young European children. Collecting prospective environmental data in a cohort of millions children-years starting soon after birth seems unpracticable. Retrospective case-control studies are an alternative, provided biased controls and recall bias can both be avoided.Objectives: To develop a ‘v...

hrp0086p2-p266 | Diabetes P2 | ESPE2016

Gene-Environment (GxE) Interactions in Childhood Type 1 Diabetes (T1D): A Case-only Geographical Approach in the ISIS-Diab Cohort

Bougneres Pierre , Fur Sophie Le , Valtat Sophie , Lathrop Mark , Valleron Alain-Jacques , ISIS-Diab Network France

Background: T1D concordance in MZ twins being ~40%, non-heritable factors play a major causal role in this autoimmune disease. T1D has recently increased in young European children. Collecting prospective environmental data in a cohort of millions children-years starting soon after birth seems unpracticable. Retrospective case–control studies are an alternative, provided biased controls and recall bias can both be avoided.Objectives: To develop a &#...

hrp0086p2-p61 | Adrenal P2 | ESPE2016

Severe Neonatal Cushing Syndrome with Multi-Organ McCune Albright Manifestations

Sophie Lambert Anne , Rothenbuhler Anya , Durand Philippe , Bougneres Pierre

Background: Reports of Cushing syndrome during the first month of life are rare. Mortality is high, despite medical (metyrapone) or surgical (adrenalectomy) treatment.Objectives: To report a new neonatal case of Cushing due to McCuneAlbright syndrome (MAS).Patient and results: Although a healthy baby at age 10 days, a newborn girl presented with sudden manifestations within the following 2 weeks: facial and truncal plethora, severe...

hrp0084p1-109 | Perinatal | ESPE2015

Continuous Subcutaneous Infusion of Recombinant LH and FSH During Early Infancy Promotes Testicular Descent in Congenital Hypogonadotropic Hypogonadism

Lambert Anne Sophie , Lucchini Philippe , Bouvattier Claire , Bougneres Pierre

Context: Cryptorchidism, a common consequence of HH, is treated with orchiopexy. We previously observed that continuous subcutaneous infusion of gonadotropins restored normal serum testosterone and inhibin B concentrations in two infants with hypogonadotropic hypogonadism (HH) and was associated with testicular descent in one.Objective: Test if subcutaneous gonadotropin infusion within the first year of life can allow testicular descent in eight boys wit...

hrp0084p2-515 | Pituitary | ESPE2015

Contrasting Central Diabetes Insipidus due to preproAVP Mutations: Earlier Onset of Symptoms in Recessive than in Dominant Forms

Bourdet Karine , Valette Sophie , Deladoey Johnny , Vliet Guy Van

Background: Central diabetes insipidus may result from mutations in the preproAVP gene, most often heterozygous and occurring de novo or inherited in an autosomal dominant mode; in these cases, intracellular accumulation of the misfolded product of the mutated allele slowly destroys the AVP-producing neurons, so that the onset of symptoms may be delayed for up to 28 years by which time the posterior pituitary hyperintense signal is no longer visible on magnetic resonance imagi...

hrp0089p1-p159 | Growth & Syndromes P1 | ESPE2018

Does X-Chromosome Gene Dosage Determine Growth and Phenotypic Features in Turner Syndrome with 45,X/46,XX Mosaicism on Standard Karyotyping? A Cross-Sectional Analysis of the French National Rare Disease Network Database

Fiot Elodie , Zenaty Delphine , Pick Paul , Boizeau Patricia , Haignere Jeremy , Dos Santos Sophie , Christin-Maitre Sophie , Carel Jean-Claude , Leger Juliane , Turner Syndrome Study Group French

Background: Turner Syndrome (TS) with a 45,X phenotype is generally more severe than TS with mosaicism, but the potential role of the degree of mosaicism in modulating TS phenotype has never been investigated. We assessed the impact of various degrees of 45,X/ 46,XX mosaicism on phenotypic features in a cohort of TS patients.Method: We analysed a cohort of TS with 45,X/ 46,XX mosaicism (percentage mosaicism from peripheral blood lymphocytes, known in <em...

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...

hrp0092t9 | Top 20 Poster | ESPE2019

Empagliflozin and GABA Improve β-Cell Mass and Glucose Tolerance in New-Onset Type 1 Diabetes

Daems Caroline , Welsch Sophie , Boughaleb Hasnae , Vanderroost Juliette , Robert Annie , Sokal Etienne , Lysy Philippe

Presently, the autoimmune character of T1D is challenged, but it is indisputable that inflammation plays a key role in its development. We hypothesized that glucotoxicity could contribute to β-cell mass destruction through maintenance of inflammation. Here, we aimed to evaluate, after diabetes onset, the potential of empagliflozin (EMPA) to protect β-cell mass against glucotoxicity, in monotherapy or in association with GABA, tested for its potential to increas...

hrp0092p1-171 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Evaluation of Bone Health in Adolescents and Young Adults After Allogeneic Human Stem Cell Transplantation in Childhood: A Single Center Cross-Sectional Study

De Waele Kathleen , Tack Lloyd , Bordon Victoria , Van Lancker Sophie , Dhooge Catharina , Cools Martine

Introduction: Hormonal deficits are well known complications after allogeneic human stem cell transplantation (alloHSCT) in childhood and treated according to existing guidelines. It is assumed that bone mass and strength accrual during puberty is also often impaired, due to toxic therapy and prolonged inactivity, but data on bone geometry and strength are scare in this particular group.Objective/Patients and Methods: Cr...