ESPE Abstracts

Background: The definitive diagnosis of childhood GH deficiency (GHD) depends on the demonstration of failure to respond to two stimuli. In our center children are allocated to either glucagon-first or clonidine-first according to the preference of the pediatric endocrinologist following the patient. The nursing staff prefer glucagon-first due to patient safety (less pronounced adverse events and faster recovery time). Few studies have addressed which GH stimulation test shoul...

Background: A basal 17-hydroxyprogesterone (17-OHP) plasma level of 6.0 nmol/l was suggested as a threshold for the diagnosis of non-classical congenital adrenal hyperplasia (NCCAH), particularly in children presenting with precocious pubarche (PP).Objective: The present study aimed to determine if this threshold could lead to underdiagnosis of NCCAH.Method: In a retrospective study the cohort of pediatric patients (n=145,...

Context: Spinal muscular atrophy (SMA) is an autosomal recessive inherited disease characterized by degeneration of anterior horn cells of the spinal cord and brainstem resulting in variable degrees of muscular atrophy and proximal muscle weakness. In December 2016, nusinersen was FDA-approved for the treatment of SMA in pediatric and adult patients. The introduction of this therapeutic modality has provided a platform for professional medical-care providers i...

Background: Increased risk of obesity and cardio-metabolic risk factors were reported in patients with classical congenital adrenal hyperplasia but little is known about adiposity among patients with non-classical congenital adrenal hyperplasia (NCCAH).Aim: To assess the prevalence of overweight, obesity and cardio-metabolic risk factors among NCCAH patients. Methods: A cross-sectional retrospective study of 114 NCCAH patients (93 ...

Background: Data on anthropometric outcomes in patients with non-classical 21-hydroxylase deficiency (NCCAH) are sparse.Objective: To investigate long-term effects of NCCAH on height and weight.Method: A retrospective, cross-sectional study of 105 girls with NCCAH aged 8.4±4.1 years (0.4–18), mean follow-up 11.4±7.5 years. Outcome measures were height, weight and BMI, expressed as standard deviation score (SDS), at d...

Context: Central precocious puberty (CPP), treated or untreated, may have clinical implications in adulthood.Objective: To assess the general health status and metabolic outcome of former CPP women between the third and fifth decades of life.Design: Case–control study of an historical cohort using the computerized database of a health management organization.Participants: Study group – 148 CPP women...

Background: GH secretion is affected by duration and quality of sleep. Studies examining the connection between sleep and linear growth have reported conflicting results. Recently, we reported that nutritional supplementation was effective in promoting growth in children. In the present study, we extended our evaluation of the nutritional supplement to assess the association between nutrition, sleep and growth.Objective and hypotheses: To examine whether...

Background: Congenital hypothyroidism (CH) occurs in 1:3000–1:4000 newborns. The majority of newborns with CH are detected by routine screening programs and treatment is promptly initiated following confirmatory thyroid function testing. Although early imaging studies do not influence the treatment decision or management, they establish the underlying diagnosis and may distinguish between permanent and transient CH.Objective: To assess the role of e...

Background: The polyethylene glycol (PEG) method, which utilizes the addition of PEG to precipitate immunoglobulin fractions in order to measure free thyroid stimulating hormone (TSH), has been implemented as a tool for investigating incongruities in TSH measurement.Aim of the study: To investigate the practical application of PEG-TSH testing in pediatric scenarios with a discrepancy between elevated TSH and normal free ...

Context: Synthetic corticosteroids are medications frequently prescribed for a wide range of medical indications. Various preparations differ in their biological effect, mode of administration, potency and duration of action. Comprehensive knowledge is essential in order to prescribe corticosteroids in an efficient yet safe manner.Objectives: To explore pediatricians' practices and attitudes regarding corticosteroid ...