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...

hrp0086p2-p499 | Fat Metabolism and Obesity P2 | ESPE2016

Multidisciplinary Care Management of Pediatric Obesity and Factors Associated with Better Outcomes

Thibault Helene , Carriere Caroline , Cabaussel Cassandre , Bader C , Barberger-Gateau Pascale , Barat Pascal

Background: RePPOP Aquitaine (network of prevention and treatment of pediatric obesity in southwest France) has developed a multidisciplinary approach to treat childhood obesity based on multicomponent lifestyle interventions and family-based actions.Objective and hypotheses: This study assessed the impact of the care management proposed by RePPOP Aquitaine and investigated factors associated with better outcomes.Method: The impact...

hrp0086p2-p514 | Fat Metabolism and Obesity P2 | ESPE2016

Prader Willi Syndrome in Brazil: 6 months Follow-up in a Reference Center

Ito Simone , Passone Caroline , Rocha Ruth , Dichtchekenian Vae , Kupperman Hilton , Damiani Durval

Background: Prader–Willi syndrome (PWS) patients have been followed in our country in different ways but without a reference center. In January 2015, we started a PWS reference center in Sao Paulo University to promote a better care for patients and families and to support them with a multidisciplinary team, including pediatric endocrinologist, dietician, nurses, neurologist specialized in sleep disorders and otorhinolaringologist.Method: Forty-two ...

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...

hrp0086p2-p852 | Syndromes: Mechanisms and Management P2 | ESPE2016

Assessment of the Medical and Psychological Status of Women with Turner-Syndrome in Young Adulthood

Ertl Diana-Alexandra , Culen Caroline , Schubert Katharina , Raimann Adalbert , Haeusler Gabriele

Background: Difficulties in transition of adolescent Turner Syndrome (TS) patients to adult health care has been reported in many studies.Objective and hypotheses: We conducted a medical and psychological follow-up of adult patients with Turner Syndrome which had been treated at our tertiary pediatric endocrine centre.Method: We screened for expected comorbidities and provided a questionnaire asking for current medical care. Furthe...

hrp0082fc10.3 | Programming & Early Endocrinology | ESPE2014

Genetic and Epigenetic Defects at the GNAS Locus Lead to Opposite Patterns of Fetal and Postnatal Growth

Grybek Virginie , Maupetit-Mehouas Stephanie , Hogler Wolfgang , Juppner Harald , Silve Caroline , Linglart Agnes

Background: Pseudohypoparathyroidism (PHP) is characterized by proximal tubular resistance to PTH and, in some disease variants, by Albright osteodystrophy. PHP is caused either by mutations in those regions of GNAS encoding Gsα (PHP1A and PseudoPHP) or by GNAS methylation defects (autosomal dominant (AD) and sporadic (spor) PHP1B). Phenotypic differences in fetal growth, post-natal growth and metabolism are observed in the different PHP types.<p cla...

hrp0082p2-d2-274 | Adrenals &amp; HP Axis (1) | ESPE2014

Severe 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia and Congenital Hypothyroidism Due to Thyroglobulin Mutations in a Single Family: Two Distinct Genetic Disorders with Phenotypic Variability within a Single Family

Ponmani Caroline , Atterbury Abigail , Seniappan Senthil , Schoenmakers Nadia , Nicholas Adeline K , Chatterjee Krishna , Dattani Mehul

Background: 21-Hydroxylase deficiency due to mutations in CYP21A2 represents the commonest form of congenital adrenal hyperplasia (CAH). Dyshormonogenetic congenital hypothyroidism (CH) may be due to TPO, TG, DUOX2, DUOXA2, IYD, SLC5A5 and SLC26A4 mutations.Objective and hypotheses: We report a kindred with three siblings born to unrelated parents manifesting with two different forms...

hrp0082p3-d1-911 | Pituitary | ESPE2014

Primary Polydipsia in a Family with Mutation in the AVP Gene and Proven Central Diabetes Insipidus

Casey Ruth , Hannon Anne Marie , Joyce Caroline , O'Halloran Domhnall , O'Connell Susan

Background: Diabetes insipidus (DI) is characterised clinically by the inappropriate production of large volumes of dilute urine even in the presence of clinical dehydration or deprivation of water. DI occurs either due to a deficiency or insufficiency of arginine vasopressin (AVP) hormone production. Hereditary DI accounts for <10% of the DI cases. As hyponatraemic seizures secondary to inappropriate use of desmopressin can occur, caution is required before a diagnosis of...

hrp0082p3-d1-929 | Puberty and Neuroendocrinology | ESPE2014

Long-Term Consequences of Indirect Topical Exposure to Testosterone Gel in Young Children

Gies Inge , Vanbesien Jesse , De Brucker Yannick , Ernst Caroline , Anckaert Ellen , De Schepper Jean

Background: Virilization of young children after topical androgen use by their fathers through skin contact is well-known. The long-term consequences of such exposure at very young age are not well known.Objective and hypotheses: The aim is to report the occurrence of spermarche in a young boy and central precocious puberty in a young girl as late consequences of interpersonal transfer of testosterone gel.Method: Testosterone conta...

hrp0084fc9.6 | Beta cell disorders | ESPE2015

Pharmacokinetics of a New Suspension of Glibenclamide for Use in Young Patients and Infants with Neonatal Diabetes

Beltrand Jacques , Busiah Kanetee , Berdugo Marianne , Treluyer Jean-Marc , Elie Caroline , Polak Michel

Background: Sulfonylurea therapy allows a better metabolic control than insulin in patients with neonatal diabetes secondary to mutation in potassium channel. Its galenic form (tablets) is not suitable for children, as the dosage can’t be easily modulated and as it induces large pharmacokinetics (PK) variations when administer to young children.Objective and hypotheses: To measure relative biodisponibility of a new galenic form of glibenclamide and ...