hrp0084p3-617 | Adrenals | ESPE2015

Conservative Treatment Allows Substantial Improvement of Neonatal Cushing Syndrome in McCune Albright Syndrome, a 2 Year Follow-up

van Nieuwaal Nancy HG , Houwen Roderick H J , van der Grinten Hedi L Claahsen , Stuart Annemarie A Verrijn

Background: McCune Albright syndrome (MAS) is defined by the classic triad of precocious puberty, fibrous dysplasia of bone and café au lait skin pigmentation. However, the clinical spectrum is often more variable due to mosaic distribution of the postzygotic GNAS-mutation. Hypercortisolism occurs in a minority (5%) of patients. It is most frequently caused by nodular adrenal hyperplasia and can be life-threatening. Decisions on whether clinical management should be conse...

hrp0084p3-942 | GH & IGF | ESPE2015

Long-Term Insulin Sensitivity and β-Cell Function in Short Children Born Small for Gestational Age Treated with GH and GnRHa: Results of a Randomised, Dose-response Trial

van der Steen Manouk , Lem Annemieke J , van der Kaay Danielle C M , Hokken-Koelega Anita C S

Background: Pubertal children born small for gestational age (SGA) with a poor adult height (AH) expectation can benefit from treatment with GH 1 mg/m2 per day (~0.033 mg/kg per day) in combination with 2 years of GnRH analogue (2 years GnRHa) and even more so with 2 mg/m2 per day (~0.067 mg/kg per day). Concerns haven been raised about the effects of GH and GnRHa on insulin sensitivity on the long-term.Objective and hypotheses: To ...

hrp0094p1-134 | Growth Hormone and IGFs A | ESPE2021

Starting recombinant human growth hormone treatment at an early age improves adherence and catch-up growth in patients with growth disorders, and highlights the importance of the new guideline on referral of short children to paediatric care

van Dommelen Paula , Zoonen Renate van , Vlasblom Eline , Wit Jan M. , Beltman Maaike , Arnaud Lilian , Koledova Ekaterina ,

Background: The new preventive child health care guideline for referral of short/tall children facilitates early detection of growth disorders. Understanding the impact of early treatment initiation on recombinant human growth hormone (rhGH) adherence and catch-up growth can support the use of the guideline.Aim: To evaluate the impact of age at rhGH treatment start on adherence (≥85% vs <85% of prescribed doses...

hrp0097fc11.4 | GH and IGFs | ESPE2023

Long-term GH-treatment of children born small for gestational age (SGA) does not result in cerebrovascular abnormalities in adulthood compared to untreated controls

Dorrepaal Demi , Goedegebuure Wesley , Smagge Lucas , van der Steen Manouk , van der Lugt Aad , Hokken-Koelega Anita

Background: Increased cerebrovascular morbidity and mortality was reported in adults who were treated with growth hormone (GH) during childhood, including those born SGA, compared to the general population. However, previous studies did not have an appropriate control group of untreated SGA adults which was a major limitation.Objective: To assess cerebrovascular abnormalities (aneurysms, previous intracerebral hemorrhage...

hrp0097p2-133 | Fat, Metabolism and Obesity | ESPE2023

Integrated care for childhood obesity within the medical and municipal domain

van Mil Edgar , Koetsier Leandra , Seidell Jaap , Sijben Marian , Stroo Judith , van der Velde Marian , Halberstadt Jutka

Childhood obesity is a chronic disease with detrimental effects on health and wellbeing. Treatment was traditionally focused on reducing caloric intake and increasing energy expenditure. However, considering the global increase in prevalence in obesity, especially in the paediatric age range, this approach is insufficient and transition to new initiatives is needed. Obesity is a complex disease resulting from the interaction of multiple underlying factors, including personal c...

hrp0098t10 | Top 20 Posters | ESPE2024

Phenotypic and genotypic characterization and long-term follow-up of patients with thyroid hormone resistance

Van der Auwera Tessa , Breckpot Jeroen , Unuane David , Nauwynck Elise , Van Crombrugge Paul , Decallonne Brigitte , Rochtus Anne

Background: Resistance to thyroid hormone (RTHβ) is a rare disease caused by an inactivating mutation in the thyroid hormone receptor beta gene (THRB). This condition leads to elevated thyroid hormone levels with non-suppressed TSH levels. The clinical phenotype is highly variable, ranging from asymptomatic to signs of hyperthyroidism and/or hypothyroidism. This study analysed the genotype and phenotype of paediatric and adult patients followed in three B...

hrp0094p1-1 | Adrenal A | ESPE2021

Optimizing the timing of highest hydrocortisone dose in children and adolescents with 21-hydroxylase deficiency

Schroder Mariska A.M. , van Herwaarden Antonius E. , Span Paul N. , Akker Erica L.T. van den , Bocca Gianni , Hannema Sabine E , Kamp Hetty J. van der , Kort Sandra W.K. de , Mooij Christiaan F. , Schott Dina A. , Straetemans Saartje , Tellingen Vera van , Velden Janielle A. van der , Sweep Fred C.G.J , Claahsen-van der Grinten Hedi L. ,

Context: Children with 21-hydroxylase deficiency (21OHD) require chronic glucocorticoid administration to substitute glucocorticoids and suppress adrenocorticotropic hormone-induced hyperandrogenemia. There is still no evidence about the best timing of the highest hydrocortisone (HC) dose. Administration of the highest dose in the morning aims to mimic the physiological rhythm of cortisol, while a high dose late in the evening may inhibit the early-morning inc...

hrp0097p1-365 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Etiology, histology and long-term outcome of bilateral testicular regression: a large Belgian series

Tack Lloyd , Brachet Cécile , Beauloye Veronique , Heinrichs Claudine , Boros Emese , De Waele Kathleen , van der Straaten Saskia , Van Aken Sara , Craen Margarita , Lemay Annelies , Rochtus Anne , Casteels Kristina , Beckers Dominique , Mouraux Thierry , Logghe Karl , Van Loocke Marlies , Massa Guy , Van de Vijver Koen , Syryn Hannes , Van De Velde Julie , De Baere Elfride , Verdin Hannah , Cools Martine

Background: Long-term outcome studies on bilateral testicular regression (BTR) are currently lacking, hampering counseling of patients and parents. Although a vascular origin was initially reported, recent studies revealed a genetic origin in a subset of patients (i.e. DHX37 gene variants). How this relates to patient outcomes remains unclear.Methods: Thirty-five patients with BTR were recruited in eight Belgian centers ...

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...

hrp0086p1-p31 | Adrenal P1 | ESPE2016

Growth of Children with Congenital Adrenal Hyperplasia (CAH) During the First 2 years of Life – Data from the Duth Longitudinal Registry

Linde Annelieke van der , Roeleveld Nel , vd Akker Erika , van Albada Mirjam , Hannema Sabine , Hoorweg-Nijman Gea , vd Kamp Hetty , Finken Martijn , Odink Roelof , van Trotsenburg Paul , Verkerk Paul , Claahsen Hedi

Background: A national database has been developed to register longitudinal data from all CAH children detected through neonatal screening from 2002 onwards. So far, data from 105 children have been registered (65% of Dutch CAH patients) to evaluate treatment and long-term effects in CAH.Aims: To evaluate height and weight in relation to medication used in the first 2 years of life.Methods: Biometric data and medication dosage were...