hrp0089p3-p332 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Klinefelter Syndrome with Low Gonadotropin Levels

Berdyugina Daria , Bogova Elena , Chugunov Igor , Kolodkina Anna , Shyryaeva Tatyana , Kareva Maria , Peterkova Valentina

Background: Klinefelter syndrome (KS) is the most common cause for hypergonadotropic hypogonadism. Patients with 47,XXY karyotype often have increased gonadotropin levels at early puberty, which stay high during adolescent and adult life due to hyalinisation of seminiferous tubules of testes. We report a clinical case of 47, XXY KS patient with low gonadotropin levels.Clinical case: A boy was referred to an endocrinologist at the age of 12,5 years due to...

hrp0089lb-p5 | Late Breaking P1 | ESPE2018

Association between the Use of Antenatal Steroids for Lung Maturation and Hypoglycemia in Newborns Between 26 and 34 6/7 Weeks of Gestation

Valencia Gina Marcela Gonzalez , Castaneda Jessica Lorena Gonzalez , Avendano Maria Camila Velandia , Cadena Fabio Camilo Suarez , Fontecha Eliana Rocio Arango , Diaz Andres Felipe Ochoa , Rojas Victor Clemente Medonza

Objective: The aim of this study was to evaluate the difference between the incidence of hypoglycemia in those preterm newborns who were exposed to steroids and those who were not.Methodology: This is a prospective cohort study of preterm infants born between 2017 and 2018 at a gestational age of 26 to 34 6/7 weeks in the Hospital Universitario de Santander- HUS- in Bucaramanga, Colombia.Results: 128 preterm infants were e...

hrp0086rfc5.5 | Management of Disorders of Insulin Secretion | ESPE2016

The Efficacy of Insulin Degludec in Children and Adolescents with Type 1 Diabetes

Bruzzi Patrizia , Maltoni Giulio , Predieri Barbara , Zucchini Stefano , Iughetti Lorenzo

Background: Insulin degludec (IDeg; Tresiba®) is a novel basal insulin with an ultra-long, flat and stable action profile. In adults, it provides a more consistent glucose-lowering effect and lower rates of hypoglycaemia than glargine (IGlar). Data on children and adolescents are scarce.Objective and hypotheses: To assess efficacy of IDeg among children and adolescents affected by type 1 diabetes (T1DM) previously on IGlar.Met...

hrp0086p1-p23 | Adrenal P1 | ESPE2016

The Urinary Steroidome of Children with Classic 21-Hydroxylase Deficiency Treated with Hydrocortisone

Kamrath Clemens , Wettstaed Lisa , Boettcher Claudia , Hartmann Michaela , Wudy Stefan

Background: Monitoring treatment of children with classic congenital adrenal hyperplasia (CAH) is difficult and biochemical targets are not well defined.Objective and hypotheses: To analyse the urinary steroid metabolome of children with classic 21-hydroxylase deficiency (21-OHD) during treatment with hydrocortisone and fludrocortisone.Method: We retrospectively analysed 553 daily urinary steroid hormone metabolite profiles determi...

hrp0086p1-p39 | Adrenal P1 | ESPE2016

Chronic Adrenal Insufficiency Due to a Mutation of Nicotinamide Nucleotide Transhydrogenase 1 (NNT1): Case Report

Lefevre Christine , Derquenne Helene , Ister Marielle , Weill Jacques , Gueorguieva Iva , Stuckens Chantal , Cartigny Maryse

Background: Congenital adrenal insufficiency represents a life-threatening condition. Among its multiples causes, mutation of NNT1 is the most recently discovered. We had the opportunity to observe one case. NNT1 is a gene coding for a membrane protein which protects cells from oxidative stress.Objective and hypotheses: As few cases have been published until now, we describe a new case.Results: In a consanguineous (second grade) Al...

hrp0086p1-p40 | Adrenal P1 | ESPE2016

Cognitive Functions in Congenital Adrenal Hyperplasia

Amr Nermine , Serour Mohamed , Shaker Nermine

Background: There is controversy regarding cognitive affection in patients with congenital adrenal hyperplasia (CAH).Objective and hypotheses: Assess cognitive functions in children with CAH, and their relation to hydrocortisone (HC) therapy and testosterone level.Method: Thirty children with CAH due to 21 hydroxylase deficiency were compared with 20 age and sex matched healthy controls. Hydrocortisone daily dose and cumulative dos...

hrp0086p2-p75 | Adrenal P2 | ESPE2016

Clinical Management in Secondary Pseudohypoaldosteronısm: A Case Series

Korkut Sabriye , Akin Leyla , Hatipoglu Nihal , Gunduz Zubeyde , Dursun Ismail , Ozdemir Ahmet , Kurtoglu Selim

Background: Secondary PHA is a transient aldosterone resistance condition mostly occurring in relation with urinary system infection and/or malformations. Secondary PHA cases and very few case series have been reported in the literature. In this article, we reported a case series of eight patients including different clinic presentations which have not as yet been reported in the literatüre and their long-term follow-ups.Method: Patients who have se...

hrp0086p2-p161 | Bone & Mineral Metabolism P2 | ESPE2016

Identification of Predictor Factors of Growth Outcome in Children with Hypophosphatemic Rickets

Marin del Barrio Silvia , Sancho Paula Casano , Naderi Ruben Diaz , Cots Jordi Vila

Background: The goal of treatment in children with hypophosphatemic rickets (HR) attempts to correct growth and leg deformities. However, growth is compromised despite treatment and patients are at risk of developing nephrocalcinosis in the future. Some factors (sex, age and height at diagnosis) have been related to height outcome, but little is known about the impact in growth of different dosage of treatment or alkaline phosphatase (ALP) levels.Objecti...

hrp0086p1-p201 | Diabetes P1 | ESPE2016

Non-Surgical Treatment of Diazoxide-Resistant of Early Diffuse Hyperinsulinism Using Long-Acting Octreotide, A Somaatostatin Analog: Follow-Up of Six Cases

Mention Karine , El Habbas Maya , Sechter Claire , Cartigny Maryse , Dobbelaere Dries

Background: Early diffuse hyperinsulinism represents a life- and brain-threatening condition. Besides enteral or parenteral additional supply, diazoxide represents the first line treatment. For diazoxide-resistant (DREDHI) patients, ablative surgery exposes to severe local complications, exocrine pancreas insufficiency and diabetes or residual hypoglycaemia.Objective and hypotheses: To evaluate the pros and cons of non-surgical treatment of DREDHI.<p...

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"...