hrp0097p2-279 | Late Breaking | ESPE2023

The narrative of a patient with leptin receptor deficiency: personalized medicine for a rare genetic obesity disorder

S. Welling Mila , Kleinendorst Lotte , M. van Haelst Mieke , L.T. van den Akker Erica

Leptin receptor deficiency is a rare genetic disorder that affects the body’s ability to regulate appetite and weight. For patients and their families, the disorder seriously disrupts daily life, however, little is published about this impact. We here report the experiences of a 10.5-year-old girl with leptin receptor deficiency and her family. The diagnosis of this rare genetic obesity had a deep impact on the life of the child and her family. It led to a better underst...

hrp0094p2-216 | Fat, metabolism and obesity | ESPE2021

The effects of dextroamphetamine treatment in children with hypothalamic obesity

Samaan J , Welling MS , de Groot CJ , Abawi O , Burghard M , Kleinendorst L , van der Voorn B , van Haelst MM , Oude Ophuis B , Kamp GA , Rotteveel J , van Schouten-Meeteren AYN , van den Akker ELT , van Santen HM ,

Introduction: Children with hypothalamic dysfunction, e.g. due to a genetic or acquired cause such as suprasellar tumours, often suffer from hyperphagia and/or decreased resting energy expenditure (REE). This process induces uncontrollable weight gain, resulting in severe hypothalamic obesity (HO). No effective treatment is available yet for HO. Amphetamines are psychostimulants that are known for their appetite reducing and REE stimulating side effects. Here,...

hrp0089p3-p292 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

MRI Changes in Time after Cranial Irradiation, and their Relation with Pituitary Function in Survivors of Childhood Medulloblastoma

van Ommen CCN , van Iersel L , Lequin MH , Clement SC , Janssens GOR , Boot AM , Caron HN , Claahsen-van der Grinten HL , Granzen B , Han KS , Michiels E M , van Trotsenburg ASP , Vandertop WP , van Vuurden DG , Kremer LCM , Schouten-van Meeteren AYN , van Santen HM

Background: Hypothalamic-pituitary (HP) deficiencies are frequent in childhood brain tumor survivors (CBTS) after cranial radiation. There is currently no consensus on the most optimal way to screen for HP dysfunction regarding diagnostic tests or time interval. It is not known whether MRI changes in time in the HP-region or in brain volume are predictive of HP dysfunction.Aim: To quantify changes in the HP-region and in brain volume on MRI in CBTS after...

hrp0097p1-101 | GH and IGFs | ESPE2023

Withdrawing growth hormone treatment at mid-puberty in idiopathic isolated growth hormone deficiency: baseline characteristics in patient-preference design study

Vliegenthart Joeri , Wit J.M. , Bakker B. , Boot A.M. , de Bruin C. , Finken M.J.J. , van der Heyden J.C. , Houdijk E.C.A.M. , van der Kamp H.J. , van Mil E.G.A.H. , Reedijk A.M.J. , Sas T.C.J. , Schott D.A. , van Setten P. , Straetemans S. , van Tellingen V. , Touwslager R.N.H. , van Trotsenburg A.S.P , Voorhoeve P.G. , van der Kaay D.C.M.

Background: The majority of children diagnosed with idiopathic isolated growth hormone deficiency (IIGHD) show a normal growth hormone (GH) secretion (assessed by GH stimulation tests) when retested at near adult height (NAH). It appears plausible that if normal stimulated GH secretion is observed in mid-puberty, continuing recombinant human GH (rhGH) treatment may only have a minor effect on NAH. The effect on NAH has never been investigated in a prospective ...

hrp0095p2-158 | Growth and Syndromes | ESPE2022

Global recall of a growth hormone jet delivered device: experiences with children forced to switch from a needle free system to a growth hormone device with needle.

P. van Eck Judith , S. Renes Judith , J.C. Sas Theo , L.T. van den Akker Erica , C.M. van der Kaay Daniëlle

Introduction: Growth hormone (GH) treatment is essential for growth in children with GH deficiency. Also short children born small for gestational age (SGA), and children with syndromes like Turner Syndrome (TS), Noonan Syndrome (NS) and Silver Russel Syndrome (SRS) can benefit from GH treatment. For children with needle anxiety GH delivered by a jet device can be a solution for the daily subcutaneous treatment for many years. In 2021, a global recall of the o...

hrp0092rfc9.2 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Age-Specific Reference Values for Plasma FT4 and TSH Concentrations in Healthy, Term Neonates at Day Three to Seven, and 13 to 15 of Life

Naafs J.C. , Heinen C.A. , Zwaveling-Soonawala N. , van der Schoor S.R.D. , Tellingen V. van , Heijboer A.C. , Fliers E. , Boelen A. , van Trotsenburg A.S.P.

Background: Congenital hypothyroidism (CH) is a common and preventable cause of mental retardation in children, and is detected using dried blood spots in many neonatal screening programs. Upon suspicion of CH, plasma free thyroxine (FT4) and thyroid stimulating hormone (TSH) concentrations are measured. CH can be of thyroidal or central origin (CH-T and CH-C, respectively). While CH-T diagnosis is based on an elevated plasma TSH in combination with a low FT4,...

hrp0082fc13.6 | Thyroid | ESPE2014

Abnormal Thyroid Hormone Metabolism in Patients with THRA Mutations due to Impaired Expression of the Type 3 Deiodinase

van Gucht Anja , van Mullem Alies , Horn Sigrun , Meima Marcel , Forrest Douglas , van Heerebeek Ramona , Visser Edward , Heuer Heike , Peeters Robin , Visser Theo

Background: Patients with a mutation in the thyroid hormone (TH) receptor TRα1 are characterized by growth retardation, delayed bone development, mild cognitive defects and constipation. They also have abnormal TH levels: low FT4, high T3, and low rT3 levels, suggesting an altered peripheral TH metabolism by deiodinases. The type 3 deiodinase (D3) inactivates TH by catalyzing the degradation of T3. D3 is importantly expressed in...

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...

hrp0084p1-81 | Growth Hormone | ESPE2015

The Growth Response to Growth Hormone Treatment is Greater in Patients with SHOX Enhancer Deletions Compared to SHOX Defects

Donze Stephany , Meijer Caroline , Kant Sarina , Zandwijken Gladys , van der Hout Annemieke , van Spaendonk Resie , van den Ouweland Ans , Wit Jan Maarten , Losekoot Monique , Oostdijk Wilma

Background: Short stature caused by point mutations or deletions of the short stature homeobox (SHOX) gene (SHOX haploinsufficiency, SHI) is a registered indication for growth hormone (GH) treatment. Patients with a SHOX enhancer deletion (SED) have a similar phenotype, but their response to GH is unknown. It is uncertain if duplications of SHOX or its enhancer (SDUP) can cause short stature.Objective and hypotheses: To describe the clinical characterist...

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...