ESPE Abstracts

Objective: To study the effect of orexin deficiency on metabolic and pubertal characteristics in narcoleptic children, we compared the metabolic and pubertal alterations between 15 children with narcolepsy with cataplexy (NC) and 15 control children matched for age, body mass index (BMI) z score.Method: Narcoleptic data were collected from the Reference Center for Narcolepsy and control common obese data from the department of pediatric endocrinology in ...

Background: Gliomas are the most common subgroup of CNS tumours in children. Histologic grading is a means of predicting the biological behavior of these tumours and survival is strongly correlated with tumour gradation. The IGF system of ligands and receptors are known to play an important role in both normal and neoplastic growth. Recently, nuclear translocation of the type 1 IGF1R has been demonstrated in tumour tissues. Although the IGF1R expression has been described in C...

Background: Familiar isolated pituitary adenomas (FIPA) encompasses the familiar occurrence of isolated pituitary adenomas outside the setting of syndromic conditions such as MEN1 and Carney’s complex, and comprise about 2–3% of pituitary adenomas. About 20% of FIPA have mutations in the aryl hydrocarbon receptor interacting protein gene (AIP), usually associated with a worse outcome.Objective and hypotheses: Evaluate the presence of AIP gene m...

Background: Type 2 diabetes (T2D) is an emerging disease in the pediatric population. The association between T2D and non-alcoholic fatty liver disease (NAFLD) has been described; the mechanisms responsible for the development and progression of NAFLD are incompletely understood. Evidence of high Haemoglobin A1c (HbA1c) levels and the risk of diabetes complications has been demostrated. Recent evidence suggests that metabolic control may have a role in the dev...

Introduction: Signs of hyperandrogenemia are common through adolescent and young females, hirsutism affecting 5% of reproductive -aged women. The most common cause of hyperandrogenemia and insulin resistance (IR) is polycystic ovary syndrome (PCOS) (1). The differential diagnosis includes congenital adrenal hyperplasia (CAH) (2), androgen secreting tumors, but also very rare genetic syndromes of IR.Case report: A 13 year...

Background: 12 cases of neurofibromatosis type 1 (NF-1) children with optic pathway glioma (OPG) and GH excess (GHE) are reported to-date. The aetiology of GHE is unknown. We describe two NF-1 girls and OPG with reversible GHE. The diagnosis of GHE was established from auxological data, high IGF1 and lack of GH suppression during an oral glucose tolerance test (OGTT). Our aim is to increase awareness of GHE in NF-1 children with OPG and help its management.<p class="abstex...

Introduction: Metabolic control (MC) of patients with type 1 diabetes (DM1) is linked with complications in short and long term follow up. Adolescence is a critical period in the treatment of DM1, making it difficult to achieve good MC. Few studies, all conducted in the United States, have shown an association between mother´s depressive symptoms with poorer MC of their adolescent.Objective: To evaluate the associat...

Background: The emotional distress of caregivers (i.e., parents) of children with long-term conditions affects their self-management behaviors, including treatment adherence. These conditions are diverse and prevalent, including diabetes, obesity, and growth hormone disorders (GHD). The caregivers’ emotional well-being is then a core aspect of their own quality of life, and their children’s. Emerging digital therapeutics solutions may improve such ...

Introduction: The metabolic effects of oral hormonal contraception (OC) on telomere length (RTL) in young women with T1D are unknown.Objective: To determine the effect of using an OC on glycemic control, inflammatory profile, and RTL in young women with T1D and healthy women without diabetes (C).Methodology: T1D (n:20, age: 20.6 &pm; 3.3 years) and C (n:22, age 20.2 &pm; 3 years) u...

Background: X-linked hypophosphatemia (XLH) is a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene. XLH patients exhibit short stature and skeletal deformities, which are caused by defective bone mineralization site leading to increased porosity and decreased matrix stiffness. Bone mineral density measurements have been shown to be insensitive to the cumulative bone alterations. The velocity of the first arriving signal (vFAS) ...