ESPE Abstracts

Background: Osteogenesis imperfecta is a rare collagen related hereditary disease leading to recurrent fractures, reduced mobility, muscular weakness and short stature.Objective and hypotheses: It was always discussed if the reduced height is a consequence of the impaired collagen production, a reaction of the body to the brittleness of bones or if the patient might suffer from an additional deficiency of growth hormone (GH).Method...

Background: Long-term monitoring of GH treatment in children is very important.Objective and hypotheses: To describe patterns of GH dosing in clinical practice in children with isolated GH deficiency (IGHD) and multiple pituitary hormone deficiency (MPHD).Method: We analysed 7 years of GH treatment data from NordiNet® International Outcome Study (IOS) (NCT00960128), an observational study evaluating the long-term effectiveness...

Background: In congenital hyperinsulinism (CHI) 18F-DOPA PET CT plays an essential role in differentiating between focal and diffuse CHI forms and in the analysis of the localization of a potential focus before surgery.Objective and hypotheses: The aim of this retrospective analysis was the evaluation of the 18F-DOPA PET CT efficacy in a large cohort of CHI patients.Method: In the last few years 193 18</s...

Background: Bisphosphonates act to increase bone mass by inhibition of osteoclastic bone resorption and reduction of bone turnover. Since the successful use of bisphosphonates in children with osteogenesis imperfecta, a broad range of pediatric indications with variable underlying pathomechanism emerged. While the use of bisphosphonates appears to be safe in children, data on risk factors for acute-phase reaction are sparse. A systematic characterization of si...

Context: Children with congenital adrenal hyperplasia (CAH) require hydrocortisone replacement from birth. The highest ACTH driven endogenous production of androgens happens in the early morning. To achieve a good therapy control, immediate release hydrocortisone is given early in the morning or late at night. In year 2021 the hydrocortisone modified-release hard capsule (Efmody®) was approved by the European medicine agency and from September 2021 it is l...

Background: Early postnatal administration of recombinant human gonadotropins can be an effective way to mimic mini-puberty, and thus increase penile growth in infants with congenital hypogonadotropic hypogonadism (CHH). We report for the first time its efficacy on an infant with partial androgen insensitivity syndrome (PAIS).Objective and hypotheses: To evaluate the benefits of a continuous subcutaneous infusion of recombinant human gonadotropins (CSCI-...

For the brain tumor committee of SFCE (Société Française des Cancers de l’Enfant).Objective: Therapeutic approach favors chemotherapy as the first-line-treatment in progressing OPG. There are few data on long term endocrine outcomes of aggressive OPG treated by upfront chemotherapy. Our main objective was to describe the long-term endocrine sequelae in these patients and to identify potential early predictors of the endocrine involvem...

Introduction: Only 1.8% of thyroid malignancies occur during childhood, explaining very limited pediatric data. Most frequent in children are papillary thyroid carcinoma (PTC), occurring after exposure to radiation, and presenting as a thyroid nodule ± cervical lymph nodes. PTC may present as diffusely infiltrating disease of the thyroid with microcalcifications. We report an uncommon presentation of a PTC in a 7 year old boy.Case report: The boy wa...

Background: Implementation of type 1 diabetes (T1D) in children is constant from 20 years. In combination with insulin treatment, therapeutic patient education (TPE) is essential to improve care and prognostic. The use of video games as educational support appears suitable for learning in children, innovative, and interesting to respond to the increase in TPE needs in T1D and current economic constraints.Objective and hypotheses: To validate in a proof o...

Background: Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome with an increased risk of embryonic tumors during early childhood. About 80% of patients with BWS show a molecular defect in the 11p15 imprinted region. Loss of methylation at the imprinting control region 2 (ICR2) is the most frequent defect which leads to a loss of expression of the CDKN1C gene, increasing cell proliferation. These epigenetic defects occur mostly as a mosaic event.<p cl...