hrp0092p2-12 | Adrenals and HPA Axis | ESPE2019

A Case of X-linked Adrenoleukodystrophy Presenting with Primary Adrenal Insufficiency and Normal VLCFA

Özkaya Beyhan , Acar Sezer , Özdemir Taha R. , Nalbantoglu Özlem , Köprülü Özge , Arslan Gülçin , Kutbay Yasar B. , Özkan Behzat

Introduction: X-linked adrenoleukodystrophy (X-ALD) is a rare autosomal recessive neurodegenerative disease caused by a mutation in the ABCD1 gene. Although its clinical presentation varies, X-ALD is generally characterized by progressive demyelination of the central nervous system, primer adrenal insufficiency, and elevated plasma very long-chain fatty acid (VLCFA) levels. Herein, we aimed to present a case of X-ALD with normal VLCFA caused by a path...

hrp0082p1-d2-151 | Growth (1) | ESPE2014

Sequential Measurements of IGFI Serum Concentrations in Patients With Severe Primary IGFI Deficiency (SPIGFD) and Growth Failure Treated With Recombinant IGFI (Increlex®)

Bettendorf Markus , Kapelari Klaus , Kneppo Carolin , Muller Hermann L , Schnabel Dirk , Wolfle Joachim

Introduction: Increlex® was approved as an orphan drug for treatment of growth failure in children and adolescents with SPIGFD in 2007 with relatively little data available. Therefore sequential measurements of serum IGFI, glucose, insulin and potassium were performed in SPIGFD patients treated with Increlex® to evaluate their significance in safety and efficacy.Design: Blood samples were taken after meals before and 30, 6...

hrp0082p1-d3-94 | Sex Development | ESPE2014

Prenatal Exposure to Phthalates and Phenols in Relation to Anogenital Distance at Birth in Male Infants

Fisher Benjamin G , Thankamony Ajay , Ong Ken K , Dunger David B , Hughes Ieuan A , Acerini Carlo L

Introduction: Increasing incidence of male reproductive disorders may be due to fetal exposure to putative endocrine disruptor chemicals (EDCs), such as phthalates and phenols. Anogenital Distance (AGD) is a biomarker of fetal androgen action in animals, and has recently been linked to testicular dysgenesis syndrome in humans.Objective: To examine the relationship between prenatal phthalate and phenol exposure and birth AGD in male infants.<p class="...

hrp0092p3-19 | Adrenals and HPA Axis | ESPE2019

A Case with Central Adrenal Insufficiency and Early Onset Obesity: Proopiomelanocortin Deficiency

Acar Sezer , Nalbantoşlu Özlem , Koç Altuş , Köprülü Özge , Arslan Gülçin , Özkaya Beyhan , Murat Erdoşan Kadri , Özkan Behzat

Introduction: Proopiomelanocortin (POMC) deficiency is a rare disease characterized by central adrenal insufficiency, early-onset obesity, red hair, and impaired skin pigmentation. This disease is caused by mutations of POMC that is localized in 2p23.3. Here, we aimed to present a case with central adrenal insufficiency, red hair, and rapid weight gain and who was detected frameshift mutation in the POMC.Case</s...

hrp0089p1-p015 | Adrenals and HPA Axis P1 | ESPE2018

New Insights into Low Dose Dexamethasone Suppression Test in Paediatric Cushing’s Syndrome

Wilkinson Ingrid C E , Martin Lee , Grossman Ashley B , Monson John P , Akker Scott , Savage Martin O , Drake William M , Storr Helen L

Background: The Low dose dexamethasone suppression test (LDDST) is an important investigation for suspected Cushing’s Syndrome (CS). The traditional definition of normal suppression of serum cortisol to ≤50 nmol/l during the LDDST (0.5 mg 6 hrly × 48 h) comes from a time when biochemical autoanalysers did not routinely detect very low values. Previous studies reported 5.1–8.3% of patients with Cushing’s Disease (CD) suppressed to <50 nmol/l at 48 ...

hrp0089p2-p139 | Fat, Metabolism and Obesity P2 | ESPE2018

The Associations Between Neck – and Upper Arm Circumference with Cardiometabolic Risk Over Traditional Risk Factors in Adolescents - Data from Five EUROPEAN Countries (PreSTART-Study)

Weihrauch-Bluher Susann , Petroff David , Brady Emer M. , Gray Laura J. , Ribeiro Rogerio T. , Vergara Mitxeltorena I. , Gerasimidi-Vazeou Diana A. , Davies Melanie J.

Background: Prevalence and severity of obesity and associated comorbidities are increasing in adolescents. Data on neck and upper arm (UA) circumference in addition to established anthropometric measures to define cardiometabolic risk are limited to date.Methods: Data from Phase I of the EU-funded PreSTART-study (trial registration number NCT02545140) was applied. Demographic, clinical, biochemical and lifestyle data were collected in adolescent...

hrp0097fc3.4 | Fat, metabolism and obesity 1 | ESPE2023

A Novel Mutation in DYRK1B Associated With Abdominal Obesity Metabolic Syndrome 3 (AOMS3)

Faisal Mohamadsalih Ghassan , Al-Barazenji Tara , Omar Mohammed Idris , Nedham A J Alshafai Mashael , Hussain Khalid

Background: Dual-specificity tyrosine phosphorylation-regulated kinase 1B (DYRK1B) is a nutrient-sensing protein that suppresses the RAS–RAF–MEK pathway and is known to have a role in glucose uptake and glycolysis. The expression of DYRK1B increases during adipogenic differentiation suggesting an important role in adipogenesis. Mutations in DYRK1B have been described in three Iranian families and five Caucasian patients w...

hrp0097p1-360 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Management of central diabetes insipidus in disabled children with diluted oral desmopressin lyophilisate formulation administered through nasogastric tube

Anıl Korkmaz Hüseyin , Bhushan Arya Ved , Gönüllü Ahmet , Coşkunol Fulya , Özkan Behzat

Background: Experience with nasogastric administration of oral DDAVP [desamino-D-arginine-8-vasopressin] lyophilisate (ODL) for central diabetes insipidus (CDI) in disabled children with swallowing coordination difficulties is limited.Objective: We aimed to assess the safety and efficacy of nasogastric use of ODL in disabled children with CDI.Methods: Clinical, laboratory and neuro...

hrp0089p3-p357 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

A Case of Transverse Testicular Ectopia with Persistant Müllerian Duct Syndrome: A Novel AMH Gene Mutation

Kılınc Suna , Cicek Tuğrul , Moralıoğlu Serdar , Guven Ayla

Background: The concurrence of transverse testicular ectopia (TTE) with persistent müllerian duct syndrome (PMDS) is extremely rare. Here, we report a case of TTE with PMDS in a 7-month-old male infant presenting with inguinal hernia and a novel homozygous mutation in the AMH gene. CASE REPORT: A 7-month-old male infant presented to pediatric surgery department with an inguinal hernia on the left side and bilateral undescended testis. During left herniotomy, tiss...

hrp0095p1-516 | Growth and Syndromes | ESPE2022

Ovarian hilus cell hyperplasia: a rare cause of progressive virilization in a girl with Turner syndrome in the absence of Y chromosomal material

van der ZwanY.G. , Spath M.A. , van Setten P.A. , van der Velden J.

Introduction: Turner syndrome is a relatively common chromosomal abnormality affecting 1:2000 girls. Virilization can occur in girls with Turner syndrome which is in most cases associated with the presence of an Y chromosome. Mosaicism is found in 25% of the karyotypes, in 6% of those the Y chromosome is present. This could lead to development of androgen producing gonadoblastoma/dysgerminoma. Active screening to search for Y chromosomal material is included i...