ESPE Abstracts

Background: Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive fatty acid β-oxidation defect. The enzyme is important in the breakdown of medium chain fats into acetyl-CoA to produce ketones, alternative energy source when glucose hepatic glycogen stores become depleted during prolonged fasting. In MCADD, during periods of fasting/ acute illness, there are insufficient ketones to compensate for the glucose energy deficit, ...

Leydig cell tumors(LCTs) are rare testicular tumors, representing 1-3% of them. They are usually unilateral but can be bilateral up to 3%. Its incidence is bimodal, peaking at 5-10 years (20%) and 25-35 year (80%). Malignant transformation has not been clearly proven in children, whereas in adults they are malignant in 10% of cases. The main clinical manifestation is a palpable, painless testicular mass associated in a variable percentage with endocrinological manifestations t...

Objective: Recent studies have suggested earlier onset of pubertal development in boys. As assessment with orchidometer tends to overestimate true testicular volume (TV), and measurements based on ultrasound (US) have been proposed as a more reliable method, we present US based references in 6-16 year-old Norwegian boys. Our results are compared with data from Europe and the United States (U.S.) in order to establish evidence for an ongoing secular trend in ma...

Background: Screening for congenital hypothyroidism (CH) with the possibility of an early treatment has transformed the outlook for children with CH. Despite the unquestioned public health success of newborn screening programs, the management of CH is still controversial. Most patients with positive screening have permanent hypothyroidism but some of them may have transient hyperthyreotropinemia, so it is important to identify these patients in order to avoid lifelong unnecess...

Background: The prevalence of childhood type 1 diabetes mellitus (T1DM) is increasing and the age at presentation is falling. Late presentation with diabetic ketoacidosis (DKA) is more common in younger children who are at increased risk of cerebral oedema.Objective and hypotheses: To describe the clinical presentation of new onset T1DM to our centre and report time to diagnosis, incidence of DKA, requirement for intensive care and complications.<p c...

Background: Constitutional delay of growth and puberty (CDGP) is one of the most frequent norm variants in children presenting with short stature. Knowing the height, growth, and weight pattern of CDGP in the first years of life is important to distinguish CDGP from growth hormone deficiency (GHD) or other diseases.Methods: We studied height and weight in the first 5 years of life in 54 boys with CDGP including measureme...

Background: For children with retarded bone ages such as in constitutional delay of growth and puberty (CDGP) there are no specific methods to predict adult height based on bone age. Widely used methods such as Bayley-Pinneau (BP) tend to overestimate adult height in CDGP. Therefore, we aimed to develop a specific adult height prediction model for boys in pubertal age with retarded bone age >1 year.Methods</...

Background: Adherence to GH treatment is a challenge.Objective and hypotheses: We analysed the impact of treatment duration, treatment success, treatment indication, age, gender, pubertal stage, and height on treatment adherence (TA) to optimise treatment success.Method: Based on the easypod autoinjector used in the Saizen-online prospective, multicenter, open-label, noninterventional study we analyzed TA in 6 months periods. TA wa...

Background: Copeptin is a surrogate marker for arginine vasopressin (AVP) release in response to hyperosmolal stimuli such as diabetic ketoacidosis (DKA). We aimed to characterize the temporal course (kinetics) of serum osmolality and copeptin during rehydration and insulin therapy in children with type 1 diabetes (T1D) and DKA, and the relationship between both (dynamics).Methods: An observational multi-center study was...

Background and Objective: Obesity is known to affect pubertal timing. However, existing data are still controversial, observing either delayed or accelerated pubertal onset, especially among boys. Herein, we evaluated pubertal milestones and underlying hormonal changes between lean and obese children.Material and Methods: We examined 13,484 events from 4,855 lean (BMI SDS <1.28) and 1,983 obese (BMI SDS > 1.88) c...