hrp0094p2-435 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Two pedigrees with congenital bilateral anorchia in one sibling and testicular torsion at adolescence in another: a shared genetic predisposition?

Brachet Cécile , Chiniara Lyne , Vliet Guy Van

Background: In bilateral anorchia or vanishing testes syndrome, testicular function is normal during the embryonic period, as shown by the absence of Müllerian remnants and of hypospadias. Although normally differentiated, the penis may be small due to decreased testosterone secretion during the fetal period. In a normally virilised boy with non-palpable testes, with or without micropenis, the diagnosis is established by undetectable plasma anti-Müllerian hormone (AM...

hrp0082p1-d2-217 | Reproduction (1) | ESPE2014

Reference Charts for Testicular Volume in Dutch Children and Adolescents

Joustra Sjoerd , van der Plas Evelyn , Goede Joery , Oostdijk Wilma , Delemarre - Van de Waal Henriette , Hack Wilfried , van Buuren Stef , Maarten Wit Jan

Background: Measurement of testicular volume is important when conditions associated with a delay or advance in the onset of puberty, or micro- and macroorchidism, are suspected. Measured testicular volumes must be compared with reference data, preferably expressed in S.D. curves using the LMS method, as is routinely done for many auxological measurements in pediatrics. The current study therefore aimed to construct LMS-smoothed age-reference charts for testicul...

hrp0092rfc13.3 | Adrenals and HP Axis | ESPE2019

Establishment of Reference Intervals for Hair Cortisol in Healthy Children Aged 0-18 Years Using Mass Spectrometric Analysis

de Kruijff Ineke , Noppe Gerard , Kieviet Noera , Choenni Vandhana , Lambregtse-van den Berg Mijke , Begijn Dominique , Tromp Ellen , Dorst Kristien , van Rossum Elisabeth , de Rijke Yolanda , van den Akker Erica

Background: Human scalp hair is a valuable matrix for determining long-term cortisol concentrations, with wide-spread applicability in clinical care as well as research. However, pediatric reference intervals are lacking.The aim of this study is to establish age-adjusted reference intervals for hair cortisol in children aged 0-18 years and to gain insight into hair-growth velocity in children up to 2 years old.Methods: A...

hrp0097fc1.6 | Adrenals and HPA Axis | ESPE2023

Cardiovascular risk profile in adult patients with congenital adrenal hyperplasia: a cross-sectional study

van der Zwan Y.G. , Schrӧder M. , Stikkelbroeck N.M.M.L. , Reisch N. , Falhammar H. , Roeleveld N. , Claahsen-van der Grinten H.L.

Background: Adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) develop an adverse metabolic and cardiovascular risk profile. Both over- and undertreatment with glucocorticoids are associated with these adverse metabolic effects. There is limited data available of changes in cardiovascular parameters during lifetime.Objective: This study aimed to evaluate unfavorable changes in cardiovascu...

hrp0097p1-332 | Multisystem Endocrine Disorders | ESPE2023

Results from learner’s feedback on the use of free, globally accessible CME-accredited e-learning modules in Paediatric Endocrinology and Diabetes

Idkowiak Jan , van Wijngaard-deVugt Conny , van der Zwan Yvonne , Abu-Libdeh Abdulsalam , Kalaitzoglou Evangelia , Karabouta Zacharoula , Drop Sten , M Boot Annemieke , May Ng Sze

Introduction: The ESPE e-Learning web portal is a free, globally accessible online tool to enhance learning in Paediatric Endocrinology and Diabetes. Since August 2022, the e-learning content includes 30 accredited hours of ESPE/ISPAD e-learning Continuing Medical Education (CME) courses with ten core modules each in Paediatric Endocrinology, Paediatric Endocrinology in Resource Limited Setting (RLS) and Paediatric Diabetes. The CME modules were created by wor...

hrp0094p1-5 | Adrenal A | ESPE2021

Alterations in resting-state functional connectivity in patients with congenital adrenal hyperplasia

Messina Valeria , van´t Westeinde Annelies , Padilla Nelly , Lajic Svetlana ,

Background: Patients with congenital adrenal hyperplasia (CAH) are treated with life-long glucocorticoid (GC) replacement therapy. Negative effects on cognition, brain structure and function during working memory tasks have been identified. To date, no studies on functional connectivity during rest have been performed in patients with CAH. One study conducted on patients with Cushing’s syndrome, another disorder of cortisol imbalance, suggests that long-t...

hrp0097p2-309 | Late Breaking | ESPE2023

The making of the EndoWatch: A new device for Early Monitoring of Hypothalamic imbalances.

Hulsmann Sanne , Petras Sarah , Fraboulet Philippe , Lu Yuan , van Santen Hanneke

Title: The making of the EndoWatch: A new device for Early Monitoring of Hypothalamic imbalances. Hulsmann S, Petras S, Fraboulet P, Yuan Lu, van Santen HM (on behalf of the EndoWatch team) Keywords: Paediatric and adolescent cancer survivors, Brain tumour, Quality of Life, Wearable, Hypothalamic Obesity Main goals: Aim for better quality of lifeIntroduction: Children and adults with a suprasellar (hypothalamic)...

hrp0097fc12.6 | Thyroid | ESPE2023

TSH screening in premature newborns: a critical appraisal of the value of a second sample.

Boros Emese , Van Vliet Guy , Heinrichs Claudine , Ulgiati Fiorenza , Vicinanza Alfredo , Marcelis Lionel , Brachet Cécile

Introduction: Consensus guidelines (2021) state that a second dry blood spot (DBS) should be considered for newborn screening (NBS) in preterms (delayed TSH rise).Objective: To evaluate the diagnostic yield of an NBS strategy including a second DBS at 14 days in preterms.Material and Methods: Retrospective study of 2 cohorts. Cohort 1: live births <37 weeks of gestational age (G...

hrp0095p2-76 | Diabetes and Insulin | ESPE2022

Fibroblast growth factor 23 in relation to calcium-phosphate metabolism and cardiovascular risk factors in patients with type 1 diabetes.

Vermeulen Stephanie , E.A. Scheffer-Rath Mirjam , T.P. Besouw Martine , van der Vaart Amarens , H. de Borst Martin , M. Boot Annemieke

Introduction: Cardiovascular disease (CVD) is the major cause of morbidity and mortality in type 1 diabetes (T1D). Recent studies implicated deregulated phosphate homeostasis in the etiology of CVD. The objective of this study is to address the relationship between the phosphate-regulating hormone fibroblast growth factor 23 (FGF23) and cardiovascular risk factors in adults with and without type 1 diabetes (T1D).Methods:...

hrp0095rfc1.1 | Thyroid | ESPE2022

European Thyroid Association Guideline on the Management of Pediatric Thyroid Nodules and Thyroid Carcinoma

Lebbink Chantal A. , Links Thera P. , Czarniecka Agnieszka , Dias Renuka P. , Elisei Rossella , Izatt Louise , Krude Heiko , Lorenz Kerstin , Luster Markus , Newbold Kate , Piccardo Arnoldo , Sobrinho Simões Manuel , Takano Toru , Paul van Trotsenburg A.S. , Verburg Frederik A. , van Santen Hanneke M.

At present no European recommendations for the management of pediatric thyroid nodules and differentiated thyroid carcinoma (DTC) exist. Differences in clinical, molecular, and pathological characteristics between pediatric and adult DTC emphasize the need for specific recommendations for the pediatric population. An expert panel was instituted by the executive committee of the European Thyroid Association (ETA) including an international community of experts from a variety of...