hrp0082fc14.5 | Puberty | ESPE2014

Fertility of Women Treated During Childhood for Precocious Puberty with Triptorelin: PREFER Retrospective Study

Carel Jean-Claude , de Mouzon Jacques , Blumberg Joelle

Introduction: There are few published large-cohort studies examining the long-term impact of GNRH analogue treatment for precocious puberty (PP) on fertility in women. The PREFER study analysed fertility in a large cohort of women treated during childhood for PP with triptorelin.Methods: PREFER was a longitudinal, descriptive, non-comparative, epidemiological study conducted in 23 centres in France between February 2007 and November 2009. Women aged &#88...

hrp0082p2-d1-414 | Growth Hormone | ESPE2014

Final Height SDS Gain of GH Treated Children with SHOX Deficiency Describing Observational and Clinical Trial Data

Benabbad Imane , Child Christopher , Carel Jean-Claude , Rosilio Myriam

Background: Patients with mutations of the short-stature-homeobox-containing (SHOX) gene likely have impaired growth, with or without a spectrum of skeletal anomalies consistent with mesomelic skeletal dysplasia. In a multinational clinical trial, GH has been shown to increase growth rate and final height (FH).Objective and hypotheses: The aim of this analysis was to describe FH outcome after GH treatment in an observational setting (Genetics and Neuroen...

hrp0086rfc9.6 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Emerging Pitfalls of Etiological Diagnosis of Diabetes in Children and Adolescents? Analysis of a French Cohort of 310 Recent-Onset Cases

Bismuth Elise , Plat Helene , Chevenne Didier , Chantelot Christine Bellane , Carel Jean-Claude , Tubiana-Rufi Nadia

Background: A diagnosis of diabetes in children used to mean type 1 diabetes (T1D) and lifelong insulin therapy. However, over the last decades the spectrum of diabetes has widened and even if auto immunity remains the most prevalent etiology, confounding factors and overlap with other causes of diabetes types sometimes make a revision of the initial diagnosis necessary.Objective and hypotheses: To classify diabetes etiologies in youth with diabetes usin...

hrp0086p2-p67 | Adrenal P2 | ESPE2016

Successful Medical Management of Severe Neonatal Cushing Syndrome with Metyrapone, Guided by Mass Spectrometry Monitoring

Poidvin Amelie , Storey Caroline , Martinerie Laetitia , Braun Karine , Lahlou Najiba , Leger Juliane , Carel Jean-Claude

Background: Neonatal Cushing syndrome is a rare and severe condition, mostly associated with the McCune-Albright (MCA) syndrome. Management options include medical treatment (with ketoconazole or metyrapone resulting in 11-beta-hydroxylase blockade) and radical treatment with bilateral adrenalectomy. Spontaneous regression in late infancy has been reported.Objective and hypotheses: To report on the outcome of a 14 month-old girl with severe neonatal Cush...

hrp0086p1-p563 | Perinatal Endocrinology P1 | ESPE2016

Hyponatremia in Infants Under 100 Days Old: Frequently Overlooked and Multifactorial

Storey Caroline , Dauger Stephane , Baud Olivier , Deschenes Georges , Carel Jean-Claude , Martinerie Laetitia

Background: Hyponatremia is one of the most common electrolyte disorders in hospitalized children and early diagnosis and management are crucial to prevent morbidity and mortality. Because of the physiological resistance to aldosterone under 3 months of age, the mechanisms leading to hyponatremia are often misunderstood.Objective and hypotheses: To assess the prevalence of hyponatremia in hospitalized infants younger than 100 days and evaluate the mechan...

hrp0086p1-p724 | Pituitary and Neuroendocrinology P1 | ESPE2016

Estimating the Psychosocial Impact of Idiopathic Central Precocious Puberty (ICPP) in Girls Aged 6 to 8 Years: A Qualitative Study

Vasse Camille , Teixeira Maria , Paulsen Anne , Malivoir Sabine , Samara-Boustani Dinane , Carel Jean-Claude , Simon Dominique

Background: Emotional and behavioural problems are often used in support of GnRH agonists therapy in girls with early pubertal timing. However, there is little evidence to show that CPP leads to psychological distress and whether treatment is associated with improved psychological outcome.Objective and hypotheses: The objective of this qualitative study was to explore the psychosocial impact of ICPP in recently diagnosed girls.Meth...

hrp0086p1-p745 | Pituitary and Neuroendocrinology P1 | ESPE2016

Constitutional Delay of Puberty or Hypogonadotropic Hypogonadism: Diagnostic Value of Inhibin B and AMH Measurements

Istanbullu Sibel , Lahlou Najiba , Chevenne Didier , Leger Juliane , Carel Jean-Claude , Martinerie Laetitia

Background: Boys with delayed puberty represent one of the main cause for pediatric endocrine referrals. Although the majority of them have constitutional delay of growth and puberty (CDGP), it is important to identify isolated hypogonadotropic hypogonadism (IHH) for optimal management.Objective and hypotheses: The aim of the study was to evaluate the usefulness of inhibin B and AMH as biological markers for distinguishing between CDGP and IHH.<p cla...

hrp0086p2-p772 | Pituitary and Neuroendocrinology P2 | ESPE2016

Brain MRI in Evaluation of Endocrine Diseases of Childhood: Causal and Incidental Lesions

Selbonne Emilie , Martinerie Laetitia , Leger Juliane , Elmaleh Monique , Sebag Guy , Carel Jean-Claude

Background: Brain MRI is an essential tool in the diagnosis of neuroendocrine disorders and aims at detecting anatomical abnormalities and tumors. However, it may lead to the identification of unrelated or questionably related abnormalities in the hypothalamic-pituitary region and/or the rest of the brain parenchyma.Objective and hypotheses: To establish the prevalence of causal lesions on brain MRI of children evaluated for hypopituitarism, assess the f...

hrp0086p2-p841 | Syndromes: Mechanisms and Management P2 | ESPE2016

Safety and Efficacy of Growth Hormone (GH) in Combination with the Gonadotrophin Releasing Hormone Agonist Leuprorelin in Pubertal Children with Idiopathic Short Stature

Benabbad Imane , Tauber Maite , Rosilio Myriam , Paris Emmanuel , Berggren Lovisa , Patel Hiren , Carel Jean-Claude

Background: Due to delays in diagnosis of Idiopathic Short Stature (ISS), puberty has often started when Growth Hormone (GH) is initiated.Objective and hypotheses: To compare GH+leuprorelin (GH+L) with GH alone in patients with ISS and at Tanner puberty stage 2 or 3. We hypothesised that co-administration of GH+L for 2–3 years would delay puberty, prolong GH efficacy and increase adult height.Method: A phase 3, randomised, ope...

hrp0086p1-p197 | Diabetes P1 | ESPE2016

Diagnosis of Non-Autoimmune Paediatric Diabetes by Targeted Next Generation Sequencing (NGS): Findings in Two Families with Rare Mono- and Digenic forms of Diabetes

Poidvin Amelie , Donath Xavier , Saint-Martin Cecile , Loison Sylvie , Carel Jean-Claude , Bellanne-Chantelot Christine , Tubiana-Rufi Nadia

Background: Nearly 10% of paediatric onset diabetes are auto-antibodies negative. Among them monogenic diabetes are frequently under-diagnosed. The major increase in the prevalence of childhood obesity is misleading with a risk of confusion between type 2 diabetes (T2D) and monogenic causes of diabetes.Objective and hypotheses: To report on two informative families with negative auto-antibodies childhood-onset diabetes cases.Method...