ESPE Abstracts

Introduction: Brain tumors are the most common solid neoplasm in children, and treatment often includes high-dose irradiation of the central nervous system (CNS). Although not universal, growth hormone deficiency (GHD) is a very common endocrine late effect after CNS irradiation in childhood. The consequences of GHD in adults are many e.g., reduced bone mineral density, fatigue, decreased lean body mass and adiposity, which implies that adults with severe GHD ...

Background: COVID19 Lockdown resulted in an extreme change in daily lifestyle with a significant increase in weight and loss of quality of life, as well as an increase in the risk of secondary health conditions even in young people. One reason for this is a fatal change in the nutritional situation, especially among adolescents. Convincing models to counter this problem are missing so far. Multiprofessional training programs could reveal an outstanding effect ...

Objectives: Continuous subcutaneous insulin infusion (CSII) has been associated with lower HbA1c. To explore whether CSII initiation leads to HbA1c improvement in each individual with type-1 diabetes and to identify co-variates which might influence change in HbA1c.Methods: 5,040 pediatric type-1-diabetes subjects (δ20 y, 49% boys, median age at diabetes onset [Q1;Q3]: 5.9 [3.5;8.4] years) ...

Objectives: To discuss all challenges involved with providing children (including the very young) and adolescents with diabetes (CwD) with the latest appropriate technology, such as automated insulin delivery systems (AIDs), to manage their blood glucose and help improve their quality of life and suggest ways in which access to new types of devices available to adults can be improved for children with T1D.Methods: In con...

Aim: Increased clinical attention toward less severe cases of congenital adrenal hyperplasia (CAH) may affect both incidence and prevalence. In this nationwide population-based cohort study, we estimate incidence, prevalence, and age at diagnosis of CAH according to subtype and sex.Patients and Methods: Individuals registered with a diagnosis of CAH during 1977 to 2018 were identified in the Danish National Patient Regis...

Background: Congenital combined pituitary hormone deficiency (cCPHD) is the loss of ≥2 pituitary hormones caused by genetic or prenatal factors.Methods: For the period 1996–2020, patients with cCPHD were identified from the Danish National Patient Registry and the registries at the four Danish hospitals approved for the management of cCPHD. Retrospective hospital file reviews were performed to validate the diagn...

Objectives: To present Chung-Jansen Syndrome or CHUJANS by a de novo variant in the pleckstrin homology domain-interacting protein (PHIP) gene and compare the clinical phenotype with previous case reports; ②To provide a novel genetic detection methods with whole-exome sequencing(WES) and whole genome sequencing(WGS) and Sanger sequencing for rare genetic diseases.Patients and methods: Following collecting clinical...

Introduction: I. was born at term by emergency caesarean delivery due to foetal distress, by unrelated parents. Birth weight: 2160 g (-3.18 SD), length 41.5 cm (-4.47 SD), head circumference 35.4 cm (0.57 SD). He was admitted in the neonatal intensive care unit (NICU) for the severe growth retardation associated to dysmorphic features. Neonatal screening, echocardiography and brain ultrasound normal. Karyotype: 46,XY.Case present...

Background: Within the government-funded project Empower-DSD, modular training programmes for children and young adults aged 6-24 years with the diagnoses CAH, Turner-syndrome, Klinefelter-syndrome or XX-/XY-DSD (including MRKH) and their relatives were developed to improve diagnosis-specific knowledge, skills and empowerment. Overall, 105 trainings were offered between August 2020 and September 2022 in 5 centres with DSD expertise in Germany.<p class="abs...

Background: Congenital adrenal hyperplasia (CAH) refers to a group of inherited genetic disorders involving deficiencies in enzymes that convert cholesterol to cortisol within the adrenal cortex. Deficiency of 21-hydroxylase is the most commonly defective enzyme. Affecting 1 of 8000 live births in KSA. It requires life-long steroid replacement therapy in form of glucocorticoid and mineralocorticoid replacement. Without appropriate monitoring, 21-OH deficiency ...