hrp0084p3-1025 | Growth | ESPE2015

New Point Mutation in Short Stature Homeobox Gene Leads to Phenotype of Lery-Weill Dyschondrosteosis

Koffeman Eva , Hoorweg-Nijman Gera , van Santen Hanneke , Volker-Touw Nienke

Background: Short stature homeobox (SHOX)-related haploinsufficiency is associated with a wide clinical variability, all characterized by growth failure with or without mesomelia and/or Madelung deformity. In patients, the effect of GH therapy on final height is comparable to the effect that can be obtained in Turner syndrome. The majority of the patients with SHOX-related haploinsufficiency disorder have deletions of varying sizes in SHOX. Point mutations in SHOX account for ...

hrp0097rfc13.5 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Growth hormone and TSH deficiency after [177Lu]Lu-DOTATATE therapy for pediatric neuroblastoma; description of a first case.

van Wessel Karen , de Keizer Bart , Dierselhuis Miranda , van Santen Hanneke

Background: Neuroblastoma (NBL) is the most common extra cranial solid tumor in children. Endocrine adverse effects after treatment for NBL have been reported of which mainly caused by treatment with 131meta-iodobenzylguanidine ([131I]MIBG) or with alkylating agents and may consist of thyroid disorders, gonadal insufficiency or short stature. Due to recent developments patients are increasingly treated with [177Lu]Lu-DOTATATE peptide receptor radionuclide ther...

hrp0097p1-356 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Acquired Hypothalamic dysfunction in childhood: “What do patients need?“ – an Endo-ERN survey

van Roessel I.M.A.A. , de Graaf J.P. , Biermasz N.R. , Charmandari E. , van Santen H.M.

Objective: Hypothalamic dysfunction is a rare condition and can be encountered in patients who have been diagnosed or treated for a suprasellar brain tumor. Due to its rarity, signs and symptoms of hypothalamic dysfunction may be difficult to recognize, leading to delayed diagnosis of the suprasellar brain tumor or to difficulties in finding the health care expertise for hypothalamic dysfunction after tumor treatment. To improve care and outcome of patients wi...

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)...

hrp0095lb19 | Late Breaking | ESPE2022

Early adrenal activation in boys with Cystic Fibrosis may explain impaired final height

Tamer Gizem , GM Arets Hubertus , K van der Ent Cornelis , M van Santen Hanneke , J van der Kamp Hetty

Background: Rapid BMI increase in early childhood was found to be a contributing factor for impaired final height in boys with Cystic Fibrosis (CF). This may be explained by early adrenarche triggering an accelerated bone maturation resulting in a compromised growth spurt during puberty, comparable to children with SGA. In healthy Dutch boys, adrenarche starts from the age of 9 years with DHEAS ≥ 1 µmol/L. In Dutch girls, the onset of adrenarche is fr...

hrp0097p1-18 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Bone mineral density in children and adolescents with Cystic Fibrosis: a follow-up study.

Tamer Gizem , G.M. Arets Hubertus , K. van der Ent Cornelis , M. van Santen Hanneke , J. van der Kamp Hetty

Background: Adults with CF show a higher rate of osteoporosis compared to healthy adults. Achieving proper bone mass is a process starting in childhood. We aimed to evaluate the prevalence of decreased bone mineral density (BMD), changes during puberty and risk factors for low BMD in children and adolescences with CF in a large Dutch cohort.Patients and methods: A retrospective observational cohort study was performed in...

hrp0097p1-562 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Concurrent premature gonadotrophic activation and gonadal insufficiency in young girls with a brain tumor

Evelein Annemieke , Schouten - Van Meeteren Netteke , Bakker Boudewijn , Gidding Corrie , Van der Wetering Marianne , Van Santen Hanneke

Background: It is well known that endocrine comorbidities occur frequently in children with cancer, especially in those with a brain tumor. In those children, increased intracranial pressure or hydrocephalus may lead to central precocious puberty. Furthermore, chemotherapy, especially alkylating agents, increases the risk for gonadal insufficiency. In this case series we describe 3 young girls with a brain tumor, who develop premature gonadotrophic activation,...

hrp0097rfc13.3 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Treatment and outcome of the Dutch Childhood Craniopharyngioma Cohort study; first results after centralization of care

van Schaik Jiska , Schouten-van Meeteren Netteke , Vos-Kerkhof Evelien , Janssens Geert , Porro Giorgio , Fiocco Marta , Bakker Boudewijn , Tissing Wim , Hoving Eelco , van Santen Hanneke

Introduction: Childhood craniopharyngioma (cCP) has excellent survival, but quality of life may be severely hampered by hypothalamic dysfunction. We aimed to evaluate treatment and hypothalamic outcomes of a Dutch cCP cohort, and evaluate the effect of centralization of care.Methods: A retrospective cohort study was performed, including cCP patients diagnosed between 2004-2021. Treatment characteristics and hypothalamic ...

hrp0097lb14 | Late Breaking | ESPE2023

Prevalence and risk factors of bone problems in children with supratentorial midline Low Grade Glioma.

van Roessel IMAA , Gorter JE , Bakker B , van den Heuvel - Eibrink MM , Lequin MH , van der Lugt J , Meijer L , Schouten - van Meeteren AYN , van Santen


Introduction: Children with cancer are at increased risk of endocrine complications, especially children with a brain tumor. One of these late effects includes bone disorders (ranging from low bone mineral density (BMD) to osteoporosis). Children with a suprasellar Low Grade Glioma (LGG) may be especially at risk for bone problems due to exposure to multiple treatment modalities, hypothalamic dysfunction and/or decreased mobility in combination with vision los...

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...