hrp0094fc9.2 | Growth Hormone and IGFs | ESPE2021

A simple model with height and age at start of treatment with recombinant human growth hormone can accurately predict future growth in children with growth disorders

van Dommelen Paula , Arnaud Lilian , Masne Quentin Le , Koledova Ekaterina ,

Background: A growth prediction model would not only allow patients with growth disorders the opportunity to see the expected effect of their recombinant human growth hormone (r hGH) treatment, but also support healthcare professionals to individualise treatment to optimise growth outcomes.Aim: To develop a growth prediction model in children with growth disorders.Patients and Methods: Height and c...

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...

hrp0097p1-290 | GH and IGFs | ESPE2023

Optimal injection device settings to achieve high adherence to growth hormone treatment in patients with growth disorders

van Dommelen Paula , Arnaud Lilian , Zucchiatti Chantal , Koledova Ekaterina

Background: Treatment for growth disorders requires daily injections of recombinant human growth hormone (r-hGH) over multiple years, and automated devices may help in this regard. The ability to adjust injection device settings, which are pre-set as default unless changed by healthcare professionals, may improve patient comfort and needle anxiety and thereby improve adherence.Aim: To study the association between inject...

hrp0095fc10.4 | GH and IGFs | ESPE2022

Cerebral white matter hyperintensities in young adults born small for gestational age treated with growth hormone during childhood in comparison with untreated controls

Dorrepaal Demi , Goedegebuure Wesley , Bos Daniel , van der Lugt Aad , van der Steen Manouk , Hokken-Koelega Anita

Background: The French population of the SAGhE study showed an increased morbidity and mortality due to cerebrovascular disease in growth hormone (GH) treated subjects compared to the general population. Cerebrovascular health can be assessed using neuroimaging markers on MRI. One of the markers is white matter hyperintensity (WMH).Objective: To assess cerebrovascular health by scoring WMH on MRI in young adults born sma...

hrp0092p1-228 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

Broadening of the Phenotypic Spectrum of Coats Plus Syndrome: A Patient Presenting with Extreme Short Stature as a Hallmark Feature

Riquelme Joel , Mericq Veronica , Pena Fernanda , Boogaard Merel W. , van Dijk Tessa , van Duyvenvoorde Hermine A. , Wit Jan-Maarten , Losekoot Monique

Background and Aims: Coats plus syndrome (MIM # 612199) is a highly pleiotropic disorder particularly affecting brain, eye, bone and gastrointestinal tract. We describe the phenotype of a patient with severe growth failure where whole exome sequencing (WES) revealed compound heterozygosity for two mutations in the CTC1 gene.Patient and Methods: The patient, the fourth child of healthy non-consanguineous parents, was born...

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...

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&...

hrp0082fc1.5 | Adrenal | ESPE2014

Antenatal Glucocorticoid Treatment and Polymorphisms in Glucocorticoid and Mineralocorticoid Receptor Genes are Associated with Long-Term Neurodevelopmental Outcomes in Preterm Survivors

van der Voorn Bibian , van der Pal Sylvia , Wit Jan , Meulenbelt Ingrid , Slagboom Eline , Rotteveel Joost , Finken Martijn

Background: Preterm survivors are found to exhibit deficits in several neurodevelopmental domains. It is unknown whether this could be explained by antenatal glucocorticoid treatment.Objective and Hypotheses: We studied whether antenatal glucocorticoid treatment is associated with behaviour and IQ in young adults born preterm. In addition, we studied whether these associations could be modified by the R23K and N363S polymorphisms in the glucocorticoid re...