hrp0092p1-388 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Is there a QTc Interval Prolongation in Girls and Women with Turner Syndrome?

Noordman Iris , Duijnhouwer Anthonie , Coert Misty , Fejzic Zina , Bos Melanie , van der Velden Janiëlle , Kapusta Livia

Introduction: Turner syndrome (TS) is a genetic condition which is reported to be associated with electrocardiogram (ECG) abnormalities, of which the rate-corrected QT interval (QTc) is the most common indicated deviation. Our objectives were to gain more insight in the prevalence of QTc-prolongation using both Bazett's and Hodge's correction formulas in patients with TS of all ages and to investigate whether QTc prolongation is more prevalent in patie...

hrp0092p2-32 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Pediatric Patients with Heterozygous ALPL Mutation show a Broad Clinical Phenotype

Melanie Brichta Corinna , Wurm Michael , Krebs Andreas , Lausch Ekkehart , Van der Werf-Grohmann Natascha , Schwab Karl Otfried

Introduction: Hypophosphatasia (HPP) is a congenital disorder of the bone and mineral metabolism. It is based on mutations in the ALPL gene, which codes for tissue-unspecific alkaline phosphatase (TNSAP). Methods:The casuistic of 3 children with heterozygous ALPL mutation are presented. The patients were identified by laboratory data screening for reduced AP activity at the Children's Hospital of the University Hospital Freiburg....

hrp0089p3-p126 | Fat, Metabolism and Obesity P3 | ESPE2018

Tracing the Effect of the Melanocortin-4 Receptor Pathway in Obesity: Study Design and Methodology of the TEMPO Registry

Eneli Ihuoma , Xu Jinyu , Fiedorek Fred , Webster Matthew , McCagg Amy , Ayers Kristin , Ploeg Lex Van Der , Garfield Alastair , Estrada Elizabeth

Introduction: The hypothalamic melanocortin-4 receptor (MC4R) pathway plays a vital role in energy balance. Genetic defects in the MC4R pathway may result in severe early onset obesity.Objective: The TEMPO registry (NCT03479437) aims to identify and enroll approximately 1000 participants with rare genetic forms of obesity that are potentially related to key genes, upstream or downstream, of the MC4R. In addition, the TEMPO registry will evaluate the burd...

hrp0086fc13.6 | Management of Obesity | ESPE2016

Treatment for Early Onset and Extreme Obesity in Two POMC Deficient Patients: Successful Weight Loss with the Melanocortin-4 Receptor Agonist Setmelanotide

Kuhnen Peter , Clement Karine , Gottesdiener Keith , Fiedorek Fred , van der Ploeg Lex , Wiegand Susanna , Blankenstein Oliver , Gruters Annette , Krude Heiko

Background: POMC deficiency is an extremely rare monogenetic obesity syndrome generally characterized by early onset hyperphagia, red hair and adrenal insufficiency. So far treatment of obesity and hyperphagia with MSH substitution failed, either due to ineffectiveness or side effects of available MC4R agonists.Objective and hypotheses: We hypothesized that the new MC-4R agonist setmelanotide might be a treatment option in POMC deficient patients.<p ...

hrp0086p1-p26 | Adrenal P1 | ESPE2016

Sex-Specific Differences in Hypothalamus-Pituitary-Adrenal Axis Activity in Newborns with Very Low Birth Weight

van der Voorn Bibian , de Waard Marita , Rotteveel Joost , Hartmann Michaela , van Goudoever Johannes , Lafeber Harrie , Wudy Stefan , Finken Martijn

Background: Male preterm infants are at increased risk of neonatal mortality when compared to their female counterparts. The mechanisms explaining this male disadvantage are not fully elucidated yet.Objective and hypotheses: To compare glucocorticoid metabolite excretion in urine obtained at day 10 between male and female infants born with a very low birth weight (VLBW; i.e. <1500 g). We hypothesized that male preterm infants have impaired adrenocort...

hrp0086p1-p48 | Adrenal P1 | ESPE2016

Cardiac Function in Pediatric Patients with Congenital Adrenal Hyperplasia

Mooij Christiaan F. , Pourier Milanthy S. , Weijers Gert , de Korte Chris L. , Claahsen - van der Grinten Hedi L. , Kapusta Livia

Background: Congenital adrenal hyperplasia (CAH) is characterized by cortisol deficiency and hyperandrogenism. Both hyperandrogenism and treatment with supraphysiological doses of glucocorticoids may cause unfavorable changes in the cardiovascular risk profile of CAH patients. Data on the cardiac function in CAH patients is scarce.Objective and hypotheses: To evaluate the cardiac function in pediatric CAH patients.Method: The cardi...

hrp0086p1-p374 | Gonads &amp; DSD P1 | ESPE2016

GATA Transcription Factors in Testicular Adrenal Rest Tumours

Engels Manon , Span Paul , van Herwaarden Teun , Hulsbergen-van de Kaa Christina , Sweep Fred , Claahsen-van der Grinten Hedi

Background: Testicular Adrenal Rest Tumours (TARTs) are benign tumours that frequently occur in male patients with congenital adrenal hyperplasia. They exhibit both testicular and adrenal characteristics, but their aetiology is unknown. Additionally, TART resembles Leydig cell tumours (LCTs), while no marker exist to discriminate between these testis tumours. GATA transcription factors play an important role in eukaryotic development and are expressed in foetal and adult adren...

hrp0086p2-p391 | Gonads &amp; DSD P2 | ESPE2016

Sertoli-Leydig Cell Tumor as a Rare Cause of Hirsutism in a Young Adolescent

van der Straaten Saskia , Merckx Mireille , Van Dorpe Jo , Goethals Inge , Bordon Victoria , Timmers Philippe , De Schepper Jean

Background: Sertoli-Leydig Cell Tumors (SLCT) account only for 1% of all ovarian neoplasia, occur more commonly in the second or third decade of life and seldom secrete tumor markers. The experience in adolescence is limited.Objective and hypothesis: To report the hormonal and biological profile of a SCLT in a young adolescent. Ovarian tumor markers as well as FDG-PET scanning might be helpful in diagnosing ovarian malignancy in case of normal ultrasound...

hrp0086p1-p452 | Fat Metabolism and Obesity P1 | ESPE2016

High Predictability of Impaired Glucose Tolerance by Combining Diagnostic Parameters in Obese Children

Jan de Groot Cornelis , van der Grond Jeroen , Delgado Yosine , Rings Edmond , Hannema Sabine , van den Akker Erica

Background: Current guidelines suggest to test obese subjects with impaired fasting glucose (IFG) by oral glucose tolerance test (OGTT) for the presence of type 2 diabetes. This strategy, however, misses most cases of impaired glucose tolerance (IGT).Objective and hypotheses: To investigate whether combining risk factors improves predictability of IGT in OGTT.Method: In this observational study of 145 overweight children, aged 2.5&...

hrp0086p1-p470 | Fat Metabolism and Obesity P1 | ESPE2016

Brain Structure, Executive Function and Appetitive Traits in Adolescent Obesity

Jan de Groot Cornelis , van den Akker Erica , Rings Edmond , Delemarre-van de Waal Henriette , van der Grond Jeroen

Background: Children with obesity show differences in brain structure, executive function and appetitive traits when compared to lean peers. Results of imaging studies, however, have been contradictory.Objective and hypotheses: To investigate whether childhood obesity is associated with differences in brain structure and whether differences associate with executive function and appetitive traits.Method: A cross-sectional case-contr...