hrp0086p2-p65 | Adrenal P2 | ESPE2016

A Novel Mutation of DAX-1 (NR0B1) in a Boy with X-linked Adrenal Hypoplasia Congenita

Gerster Karine , Katschnig Claudia , Wyss Sascha , Kolly Anne , Biason-Lauber Anna , Konrad Daniel

Background: DAX-1 (NR0B1) plays a key role in adrenal and reproductive development. It interacts with other nuclear receptors; however, its exact biological role remains unclear. In men most patients with X-linked adrenal hypoplasia congenita (AHC) present with acute adrenal failure. To date DAX-1 mutations have been found in more than 100 families or patients with X-linked AHC.Results: We report the case of a 2.5-year-old boy who presented with a histor...

hrp0086p1-p122 | Bone & Mineral Metabolism P1 | ESPE2016

Bisphosphonates Therapy in Girls with Rett Syndrome and Bone Fragility

Lambert Anne-Sophie , Rothenbuhler Anya , Charles Perrine , Celestin Elisabeth , Bahi-Buisson Nadia , Linglart Agnes

Background: Rett Syndrome (RS) is a disabling condition due to mutations in MECP2. Girls affected with RS are at risk of developing osteoporosis and fractures at a young age because of their lack of mobility and though a direct effect of MECP2 on bone mineralization. In these girls, bone fragility inflicts pain and may seriously impair the quality of life.Objective: To retrospectively assess the effect of pamidronate on fractures, bone mineral density (B...

hrp0086p1-p191 | Diabetes P1 | ESPE2016

Insulin Pump Does Not Allow a Better Control than Injections in Childhood Type 1 Diabetes (T1d) in the ISIS-Diab Cohort

Fur Sophie Le , Castell Anne Laure , Lucchini Philippe , Bougneres Pierre , Network ISIS-Diab

Background: The use of insulin pumps is rapidly spreading within the paediatric T1D community. A few small studies have promoted pump usage, while large registries have shown almost no advantage of this treatment.Objectives: Compare the results of treatment with insulin pump (‘Pump’) with insulin injections (‘Inj’) in a large cohort of children with T1D in field conditions.Patients: We studied 3137 children of t...

hrp0086p1-p238 | Diabetes P1 | ESPE2016

Correction of Carnitine Deficiency in Children with Recent Onset Type 1 Diabetes

Castell Anne Laure , Bibal Cecile , Gaignard Pauline , De Filippo Gianpaolo , Bougneres Pierre

Background: Carnitine deficiency (CD) has been reported in children at time of type 1 diabetes (T1D) diagnosis. By impairing free fatty acid ß-oxidation in liver, muscle mass and pancreatic ß cells, CD might impair glucose homeostasis and residual insulin secretion. We postulate that reversed of these FAO defects may help regenerate a healthier ß cell mass and increased the diabetes honeymoon duration.Objective: Evaluate the effects of car...

hrp0086p1-p250 | Diabetes P1 | ESPE2016

Type 1 Diabetes (T1D) Management with Few Blood Glucose (BG) Measurements but Frequent Free Adjustment of Treatment with Cell Phones or E-mails

Bibal Cecile , Laure Castell Anne , Aboumrad Brigitte , Lucchini Philippe , Bougneres Pierre

Background: Many children with type 1 diabetes (T1D) are asked to measure blood glucose (BG) 4–6 times a day routinely to adjust insulin dosages. There is no evidence though that such high frequency is beneficial to HbA1C or glycemic profile, although this is often claimed.Objectives: We challenged ‘the more BG measurements, the better control’ dogma for alleviation of T1D burden in child life and evaluation of HbA1C.<p class="abstext"...

hrp0086p2-p278 | Diabetes P2 | ESPE2016

Childhood Type 1 Diabetes (T1D) Management with e-learning through Self-educational Tools

Bibal Cecile , Laure Castell Anne , Aboumrad Brigitte , Lucchini Philippe , Bougneres Pierre

Background: Children with type 1 diabetes (T1D) and their parents need personalized i) information about the disease and glucose homeostasis and ii) knowledge and guidelines about diet and insulin therapy.Objectives: To set a complete educational program that allows children with T1D to improve disease management and daily life.Methods: Education modules were written and trained with children and parents at outpatient visits. Each ...

hrp0086p2-p410 | Gonads &amp; DSD P2 | ESPE2016

Unusual Differential Diagnosis of Hyperandrogenism in Adolescent Female Treated for Polycystic Ovarian Syndrome

Blasi Carolina Di , Amies-Oelschlager Anne-Marie , Ness Kathryn , Giesel Ann

Background: Polycystic ovarian syndrome (PCOS) is the most common cause of oligomenorrhea and hyperandrogenism. Diagnostic criteria for PCOS includes ovarian dysfunction and clinical or biochemical evidence of hyperandrogenism. The differential diagnosis includes congenital adrenal hyperplasia as well as steroid producing tumors.Case presentation: 18-years-old female presented to establish care with a history of PCOS diagnosed at the age of 11 years. She...

hrp0086p1-p448 | Fat Metabolism and Obesity P1 | ESPE2016

Laparoscopic sleeve gastrectomy in adolescents with morbid and dynamic obesity. A controlled monocentric study.

Filippo Gianpaolo De , Pourcher Guillaume , Castell Anne Laure , Kyheng Christele , Bougneres Pierre

Background: Following years of dietary and lifestyle intervention (DLI) as the only therapeutic option, reports of bariatric surgery are emerging in adolescents with morbid obesity. We present herein preliminary results of our 4-yr sleeve gastrectomy study.Objectives and hypotheses: To compare the effects of laparoscopic sleeve gastrectomy (LSG) and intensive DLI in adolescents with morbid obesity (ie BMI >4 DS) and extremely active weight gain (i.e....

hrp0086p1-p638 | Growth P1 | ESPE2016

Retrospective Analysis of Growth Hormone (GH) Treatment Results in Children with Idiopathic Growth Hormone Deficiency (IGHD), Turner Syndrome (TS) and Small for Gestational Age (SGA) using iGRO* in a Pediatric Endocrine Practice

Partsch Carl-Joachim , Jakisch Bele , Ostendorf Anne , Stahnke Nikolaus , Wusthof Achim

Background: Quality management of GH treatment in children is important to ensure optimal treatment outcome and to save resources in the health care system. iGRO is a new internet based Medical Device to compare treatment results with predicted results according to published prediction models.Objective and hypotheses: Growth data were analyzed by iGRO for 1st and 4th year prediction in comparison to treatment results. All eligible patients of our practic...

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...