hrp0098p1-69 | Growth and Syndromes 1 | ESPE2024

Hormonal markers of ovarian function and the role in predicting reproductive lifespan in girls with Turner syndrome

van der Coelen Sanne , Sas Theo , Richter-Unruh Annette , Peek Ron , Braat Didi , Fleischer Kathrin , IntHout Joanna , van der Velden Janielle

Introduction: Turner syndrome (TS) significantly impacts the reproductive lifespan of affected girls due to premature ovarian insufficiency (POI). To improve fertility counseling for (parents of) girls with TS, it is important to predict the ovarian reserve at an early age. However, this is challenging since data on longitudinal hormone parameters related to ovarian function are scarce. This study aims to initiate a first step towards a prediction model for ov...

hrp0086p1-p736 | Pituitary and Neuroendocrinology P1 | ESPE2016

Cut-Off Values for Nocturnal Salivary Testosterone to Enable Detection of Early Puberty

van der Sande Linda J.T.M. , van den Hoogen Chris J. , Boer Arjen-Kars , Odink Roelof J.

Background: In boys with suspected delayed puberty, serum testosterone is used for the evaluation of gonadal function. It is known that early in puberty testosterone levels show a sleep wake rhythm, with nocturnal levels increasing ahead of daytime levels. To evaluate the onset of puberty, the use of salivary testosterone would be an appealing alternative to serum analysis as it is non-invasive and allows multiple nocturnal sampling. Moreover, it is thought that salivary testo...

hrp0092rfc10.1 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Contemporary Surgical Approach in CAH 46XX – Results from the I-DSD/I-CAH Registries

Hebenstreit Doris , Ahmed Faisal , contributing centres within the I-DSD registry and I-CAH registry on behalf of the , Springer Alexander , Krall Christoph , Krone Nils , Birkebaek Niels , Milenkovic Tatjana , Koehler Birgit , Flueck Christa , Krone Ruth , Balsamo Antonio , Rey Rodolfo , Acerini Carlo , Guven Alya , Guran Tulay , Darendeliler Feyza , Alvi Sabah , Korbonits Marta , Bonfig Walter , Correa Costa Eduardo , Ross Richard , Iotova Violeta , Konrad Daniel , Bryce Jillian , van der Grinten Hedi Claahsen , de Vries Liat

Introduction: Congenital adrenal hyperplasia (CAH) is the most common genetic condition in the spectrum of differences of sex development (DSD). Surgery in DSD is a controversial topic and there is no consensus if to perform surgery, how to perform surgery, and when to perform surgery. The current study was designed to evaluate the current practice in CAH related surgical practice in girls.Patients and Methods: All cases...

hrp0094p2-396 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Combining big data science with clinics: Novel approach for understanding human sex development and its variants.

Rodriguez Gutierrez Daniel , Sproll Patrick , Von der Decken Isabel , Stevenson Brian , Lang-Muritano Mariarosaria , Konrad Daniel , L’Allemand Dagmar , Nef Serge , Biason-Lauber Anna ,

Background/Introduction: Whole exome sequencing (WES) revolutionized clinical genetics in patients with differences of sex development (DSD). However, our ability to interpret WES data is limited by our incomplete understanding of the mechanisms involved in DSD. Thus, we created a methodology that scores potential candidates based on single cells transcriptomics of human male gonadal cells and applied it to WES data from a cohort of genetically male (46,XY) DS...

hrp0094p2-180 | Fat, metabolism and obesity | ESPE2021

Impact of the COVID-19 pandemic and related lockdown measures on lifestyle behaviours and quality of life in children and adolescents with severe obesity

Welling MS , Abawi O , van den Eynde E , van Rossum EFC , Halberstadt J , Brandsma AE , Kleinendorst L , van den Akker ELT , van der Voorn B ,

Introduction: Lockdown measures following the COVID-19 pandemic are shown to have greatly affected lifestyle behaviours and health-related quality of life (HRQoL) of children. The impact on children with severe obesity has not yet been described. Aim of this study was to investigate the impact of COVID-19 lockdown on eating behaviours, physical activity (PA), screen time, and HRQoL of children (including adolescents) with severe obesity....

hrp0097lb14 | Late Breaking | ESPE2023

Prevalence and risk factors of bone problems in children with supratentorial midline Low Grade Glioma.

van Roessel IMAA , Gorter JE , Bakker B , van den Heuvel - Eibrink MM , Lequin MH , van der Lugt J , Meijer L , Schouten - van Meeteren AYN , van Santen

HM

Introduction: Children with cancer are at increased risk of endocrine complications, especially children with a brain tumor. One of these late effects includes bone disorders (ranging from low bone mineral density (BMD) to osteoporosis). Children with a suprasellar Low Grade Glioma (LGG) may be especially at risk for bone problems due to exposure to multiple treatment modalities, hypothalamic dysfunction and/or decreased mobility in combination with vision los...

hrp0098p3-121 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2024

Treatment of an infant with congenital hyperinsulinism due to kcnj11-mutation with octreotide via continuous subcutaneous infusion: a case report

Muehlschlegel Geeske , Alice Manzardo Olimpia , Hodde Franka , Ritter Marie , Van der Werf Natascha , Kamrath Clemens

Background: We present the case of an infant with congenital hyperinsulinism presenting with persisting hypoglycaemias.Case Presentation: The boy was born at 37+3 weeks, weighing 4690g (>99. Percentile, Z-score +3.38). Large for gestational age status was suspected throughout pregnancy, gestational diabetes had been excluded via an oral glucose tolerance test twice. The newborn was initially treated at a secondary car...

hrp0086p1-p3 | Adrenal P1 | ESPE2016

Gender-Specific Differences in Hypothalamus–Pituitary–Adrenal Axis Activity in Children: A Meta-Analysis

van der Voorn Bibian , Hollanders Jonneke , Ket Johannes , Rotteveel Joost , Finken Martijn

Background: Differences in hypothalamus–pituitary–adrenal (HPA-)axis functioning have been proposed to underlie gender-specific cardiovascular and neurocognitive disease susceptibility.Objective and hypotheses: We conducted a systematic review and meta-analysis to test the hypothesis that gender-specific differences in HPA-axis activity are already present in childhood.Method: We searched two electronic databases (PubMed ...

hrp0097p2-108 | GH and IGFs | ESPE2023

Acromegaly in a 14-year-old girl with pituitary adenoma

Fingerhut Karin , Krebs Andreas , Otfried Schwab Karl , Spiekerkötter Ute , van der Werf Natascha

Introduction: Acromegaly is a rare disorder, developed by overproduction of growth hormone (GH) and insulin-growth factor 1 (IGF-1), in most cases based on a pituitary adenoma. The increased IGF-1 and GH levels lead to the growth of acres and organs as well as metabolic changes. When manifesting before epiphyseal closure, a giant growth develops.Case Report: A Ukrainian girl presented at the age of 14 years with enlargem...

hrp0098p3-104 | Fat, Metabolism and Obesity | ESPE2024

First report of a case of Wernicke Encephalopathy due to Acute Avoidance and Restrictive Food Intake in an Adolescent with insatiable hunger due to Melanocortin 4 Receptor Deficiency: a seemingly contradictory combination

E.P.L. van der Walle Eline , Deruyter Sarah , F. Neuteboom Rinze , L.T. van den Akker Erica

Background: Wernicke Encephalopathy (WE) is an acute life-threatening neuropsychiatric disorder caused by vitamin B1 (thiamine) deficiency. Although commonly associated with alcohol abuse in adults, it can also arise from non-alcoholic causes. WE is rarer in children. To our knowledge, WE has never been described in patients with extreme insatiable hunger due to genetic obesity, which seems paradoxical. We present a case of WE due to acute avoidance, restricti...