ESPE Abstracts

Background: Counselling adolescents with chronic diseases can be challenging when it comes to appropriate interview techniques and the doctor's attitude towards the patient. Successful communication can be a key element of treatment. Motivational interviewing (MI) is widely applicable in the management of behavioural problems and illnesses, as it increases patients' motivation for lifestyle changes. This plays a particularly important role in the tre...

Background: Brain tumours are the most frequent solid tumours during childhood. Many of these patients develop endocrine disorders.Objective: To describe our cohort of patients with primary brain tumours, followed in the Pediatric Endocrinology Unit at Hôpital Universitaire Necker–Enfants Malades, Paris, France between 2010–2015, to assess current practice and propose recommendations.Methods: Retrospective a...

Introduction: Primary brain tumors are the second most common childhood malignancies, with an increasing survival rate over the years. Late effects on puberty and fertility alter survivors’ quality of life.Methods: We included 204 patients diagnosed with a primary brain tumor before 18 years, followed in pediatric endocrinology at the University Hospital “Necker-Enfants Malades” in Paris between January 20...

Objective: Glioblastoma 2 (encoded by GLI 2 gene), is an activating zinc-finger transcription factor, involved in the Sonic Hedgehog pathway and embryogenesis of diencephalon and distal extremities Heterozygous mutations of GLI2 gene cause a wide range of clinical phenotype known as holoprosencephaly and holoprosencephaly-like syndrome, pituitary insufficiency, mid-facial hypoplasia, and polydactyly. We, herein, report a novel heterozygous IV...

Background: Chanarin–Dorfman syndrome is a rare autosomal recessively inherited neutral lipid disorder which is characterized by congenital ichthyosis and multiple system involvement. It is diagnosed by visualization of lipid vacuoles in neutrophiles (Jordon anomaly) in suspicious cases. This syndrome can be associated with type 2 diabetes.Aim: We wished to remind this very rare disease in differential diagnosis of ichthyosis associating with diabet...

Background: Childhood brain tumour survivors are at risk of developing endocrine secondary effects throughout lifetime. Transition between childhood and adult care is a critical moment during which patients may stop medical visits and treatments.Objective: To describe endocrine care transition in our cohort of patients with primary brain tumors followed from 2010-2015, who are ≥=18 years old by December 31st</...

Fertility is dependent on the normal development of germ cells, which is controlled by hormones and paracrine factors produced by the somatic cells within the gonads. However, exposure to cancer treatment during childhood can cause damage to the gonads leading to infertility in adulthood [1]. This presentation will explore how various cancer treatments affect gonadal function based on clinical evidence in patients [2], experimental models involving animals and studies utilisin...

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) was created in collaboration with the European Reference Network on Rare Endocrine Conditions (Endo-ERN), the European Society for Paediatric Endocrinology and the European Society of Endocrinology to support the needs of the endocrine community.Aim: To describe the patient population and data entered in the EuRRECa Core Registry between June 2...

Objective: Craniopharyngioma is a benign brain tumour with frequent local recurrence after treatment. Growth hormone replacement therapy (GHRT) is prescribed in children with growth hormone deficiency due to childhood-onset craniopharyngioma. The objective was to evaluate whether shorter time delay of GHRT initiation after childhood-onset craniopharyngioma completion therapy increased the risk of recurrence.Design: Our r...

Background: Achondroplasia (ACH), caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3), is characterized by severe growth failure and may be associated with multisystemic complications. The clinical phenotype is variable and relates to deformity of rhizomelic shortened legs, and myelon compression at cranial base and spine. Recent guidelines are published for diagnostic workflow, neurosurgical, orthopaedic and otorhinolaryngol...