ESPE Abstracts

Background: Recent clinical guidelines recommend that all patients with non-classic congenital adrenal hyperplasia (NCCAH) on glucocorticoid therapy (GC) need to be informed about stress doses and suggest the use of GC in the subgroup of patients with low cortisol response during periods of stress even though they are not on GC.Objective and Hypotheses: To study the response of cortisol to ACTH 250 μg i.v. (Synacthen®, Novartis) in p...

Background: The BoneXpert method for automated determination of bone age from hand X-rays is based on machine learning, so it lends itself naturally to be improved by adding more training data and using better learning algorithms. Currently, version 2 is running in 145 hospitals across Europe, and a new version 3 is rolled out in 2019.Objective and Hypotheses: The aim was to validate version 3 against manual ratings in r...

Background: The reasons for tall stature, defined as a height above the 97. percentile or above 2SD from the mean, are heterogeneous. Besides non-pathogenic forms like familial tall stature or constitutional advance of growth there are pathogenic forms like obesity, growth hormone excess, hyperthyreoidism, precocious puberty or some genetic disorders and syndromes that need to be concerned.Case Report: We report on a 14 ...

In adults and older children with adrenal insufficiency, hydrocortisone replacement therapy is based on the assumption that the secretion of cortisol follows a diurnal pattern, with a peak in the early morning, a gradual decline over the day and a nadir at midnight. However, replacement therapy with multiple daily doses of hydrocortisone is unable to exactly match the normal diurnal rhythm of cortisol secretion from an intact hypothalamus-pituitary-adrenal (HPA) axis, with con...

Background: There is a clear need for improved patient-centric approaches in the treatment of chronic conditions, including paediatric growth hormone deficiency (GHD). Greater understanding of the patient’s treatment journey has the potential to inform clinical decisions and to improve clinical- and patient-reported outcomes. Connected Health (CH) combines state-of-the-art technologies, tools, methodologies and analytics to create new patient-centric hea...

Background: Both CYP24A1 and SLC34A1 gene mutations are responsible for idiopathic infantile hypercalcemia (IIH). Whereas loss-of-function mutations in CYP24A1 (25-OH-vitamin D-24-hydroxylase) lead to a defect in the inactivation of active 1,25(OH)2-vitamin D3, mutations in SLC34A1 encoding renal sodium-phosphate co-transporter NaPi-IIa lead to primary renal phosphate wasting combined with an inappropri...

The Flash glucose monitoring System(FGMS) is a system of measurement of the interstitial glucose levels in real time, safe, effective and doesn´t require calibration. Its low cost has allowed to be approved for all children under 18 years old by our Regional Health Service.Objective: To assess the impact during this first year of use of FGMS in all children diagnosed with type 1 diabetes who previously used the classic method of cap...

Children born small for gestational age (SGA) have a weight and/or heighth less than −2SD from the mean, the realization of an adequate catch-up or not during the first years is important and the growth assessment is required.Objective: Analyze Catch-up on Growth of 52 SGA children during the first 4 years of life, compared 23 children who performed it properly (AC) with 19 who did not recover (NAC).Methods: Retrospective stu...

Background: GH insensitivity (GHI) encompasses growth failure, low serum IGF-1 and normal/elevated serum growth hormone (GH) (basal level >5 μg/L and/or peak on provocation testing >10 μg/L). In a significant number of children the molecular cause is unknown.Objective: To investigate the genetic etiology of GHI in a cohort of children by candidate gene (CGS) and whole exome (WES) sequencing.Methods: About 109 pati...

Background: We present a 3 years old boy born on term from young non-consanguineous parents with negative family history. Shortly after birth swelling of the feet and multiple generalised erythematous cutaneous plaques and nodules gradually appeared. Recurrent fever attacks, hepatosplenomegaly, significant growth delay (height – 4.0 S.D.) and progressive loss of subcutaneus fat tissue followed.Objective and hypotheses: Laboratory inve...