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...

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...

hrp0089p2-p339 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Results of Exome Sequencing in Disorders of Sex Development

Kempers Marlies , Claahsen Hedi , Alfen Janielle van , Velden van der , Rinne Tuula

Disorders or Differences of sex development (DSD) are a heterogeneous group of congenital conditions, involving variations of chromosomal, gonadal, or anatomical development. Diagnosis is based on clinical, biochemical, imaging and genetic evaluation. In recent years knowledge about genetic causes has increased, mainly due to improved genetic techniques. In this study we investigated the yield of exome sequencing in our patients with DSD. Patients and methods: Genetic i...

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...

hrp0086p1-p805 | Syndromes: Mechanisms and Management P1 | ESPE2016

Percutaneous Epiphysiodesis Around the Knee Effectively Reduced Predicted Excessive Final Height. Preliminary Results on Final Height, Complications and Satisfaction in a Large Cohort of Dutch Boys and Girls

Goedegebuure Wesley , van der Steen Marieke , Jonkers Frank , Bakker-van Waarde Willy , Odink Roelof

Background: Percutaneous epiphysiodesis (PE) around the knee is the treatment of choice in the Netherlands to reduce predicted excessive final height. Studies until now are limited, had small numbers of patients and short follow-up periods.Objective and hypotheses: This nationwide Dutch long-term retrospective follow-up study aimed to assess final height (FH), complications and satisfaction after PE. Primary hypothesis was: ‘The PE around the knee i...

hrp0082fc1.6 | Adrenal | ESPE2014

Molecular Characterization of Testicular Adrenal Rest Tumours in Congenital Adrenal Hyperplasia; Lesions with both Adrenocortical and Leydig Cell Features

Smeets Evelien , Span Paul , van Herwaarden Antonius , Wevers Ron , Sweep Fred , Claahsen-van der Grinten Hedi

Background: Characterization of testicular adrenal rest tumours (TART) are one of the major long-term complications in congenital adrenal hyperplasia (CAH) patients. Although several adrenal-like properties have been assigned to these benign lesions, the exact etiology has not been established yet.Objective and Hypotheses: The aim of this study was to analyze several (steroidogenic) characteristics of TART tissue which may be classified as adrenal cortex...

hrp0097p2-143 | Growth and Syndromes | ESPE2023

Improving detection of rare overgrowth syndromes referred to the endocrinology ward for analysis of acromegaly

van Essen Trui , Rosenberg Anna , de Herder Wouter , Jan van der Lelij Aart , de Graaff Laura

Background: In our center for adults with rare genetic syndromes, we see adolescents and young adults with overgrowth syndromes, among others. In our 'general endocrinology' outpatient clinic, we also see patients with overgrowth, but in these cases the overgrowth is due to excess of growth hormone (GH). Our clinical impression is that the differentiation between the two is often challenging. Therefore, we believe it is important to emphasize the dif...

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...

hrp0084p1-140 | Turner & Puberty | ESPE2015

Impaired Motor Function in Turner Syndrome: What is the Relationship to Performal Intelligence Scores?

Taskin Betul , Verhaak Chris , Essink Marlou , Kempers Marlies , Vinck Anja , Sanden Ria Nijhuis-van der , Velden Janielle van Alfen-van der

Background: Although motor performance is often impaired in patients with Turner syndrome, the exact prevalence of motor problems is unknown. Detailed studies on specific motor profiles are lacking and the exact relationship between performal IQ and motor function is unknown.Aims and objectives: 1. To describe motor performance in our population of children and adolescents with Turner syndrome including the differentiation in specific motor skill domains...

hrp0097fc11.2 | GH and IGFs | ESPE2023

Clinical characteristics of heterozygous ACAN gene variants and longer-term response to growth hormone treatment: real-world data

Renes Judith , Reedijk Ardine , Losekoot Monique , Kant Sarina , van der Steen Manouk , van der Kaay Danielle , Hokken-Koelega Anita , van Duyvenvoorde Hermine , de Bruin Christiaan

Background: Heterozygous pathogenic variants in the ACAN gene underlie disproportionate short stature with characteristically accelerated bone age (BA) maturation and/or osteochondritis dissecans (OD)/early-onset osteoarthritis (OA).Objective: To describe the phenotypic spectrum and assess the response and safety of growth hormone (GH) treatment in children with a heterozygous pathogenic ACAN variant.</...