ESPE Abstracts

Introduction: Data on BP in children with classic congenital adrenal hyperplasia (CAH) is inconsistent.Aim: To assess the trend in BP throughout childhood using data from the International CAH registry and compare this to normative data from the American Academy of Paediatrics (AAP).Method: This retrospective multi-centre study included 37 centres from 20 countries. BP data was ana...

Background: There are inconsistencies in the results reported in a small number of previous studies into growth hormone (GH) treatment of short children with idiopathic short stature (ISS.Patients and Methods: Our study included 20 prepubertal (Tanner 1) or peri-pubertal (Tanner 2) children with short stature (HtSDS < -2) and/or HtSDS > 1SD below their mid parental height SD (MPHtSDS), slow Growth velocity( <...

Aim: Recommendations for replacement glucocorticoids in CAH suggest a dose per body surface area (BSA) of glucocorticoids of 10-15mg/m2/day to maintain a 17-OH Progesterone (17OHP) level of 12-36 nmol/l across all ages. We used longitudinal analysis to assess whether biomarkers and dose of hydrocortisone varied with age in children within the I-CAH registry .Method: This retrospective multi-centre study, inclu...

Introduction: Homozygous loss-of-function mutations of the growth hormone receptor (GHR) gene result in GH insensitivity due to a dysfunctional receptor protein. Heterozygous mutations may result in a variable clinical spectrum ranging from normal height to severe short stature. Gain-of-function variants have been reported rarely.Case Report: We hereby report the case of a Russian boy who was referred to our endocrine o...

Introduction: Children with cerebral palsy (CP) has an increased risk of bone fragility, low areal bone mineral density (aBMD) and low trauma fractures leading to increased pain experience, decreased mobility and lower quality of life.Purpose: The aim of this study was to determine the prevalence of low BMD among children with cerebral palsy in Denmark across the spectrum of gross motor function scale (GMFCS) of I-V and ...

Background: Noonan Syndrome (NS) can overlap clinically and biochemically with growth hormone insensitivity [GHI; short stature (SS), low IGF-I and normal/elevated GH levels]. Mutations in multiple genes regulating RAS/MAPK pathway have been identified in NS including LZTR1 variants. Function of LZTR1 is poorly understood and its role in growth retardation is unknown.Objectives: To functionally characte...

Background: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive condition characterized by cortisol deficiency and elevated ACTH secretion, resulting in excess androgen production. This exposure to excess androgens contributes to advanced skeletal maturation and reduced growth in puberty. Data from the I-CAH registry were analyzed to identify growth-related characteristics of children and adolescents with...

ISS is a condition in which the height is more than 2 SD below the corresponding mean height for age, sex and population, in whom no identifiable disorder is present. Some ISS patients may have varying degrees of IGF-1 deficiency. Recombinant GH treatment has been used by some authors with variable results. Theoretically, low IGF-I level at presentation may affect their response to GH therapy. The question is: do children with ISS and low IGF-I respond differently to GH therap...

Introduction: Tandem Control-IQ and Minimed 780G are advanced hybrid closed-loop pumps (HCL) that began to use in adults and children in our hospital in 2021. These systems are made up of a continuous interstitial glucose monitoring (CGM) system, the insulin infuser, and the algorithm that automatically adjusts insulin delivery based on real-time glucose levels. Patients only require carbohydrate counting to calculate boluses. The aim of our study was to compa...

Introduction: Hepatic steatosis(HS) is a frequent finding in obese children. Insulin resistance, hypertriglyceridemia and abdominal circumference (AC) are known risk factors, similar to Metabolic Syndrome (MS), but the precise pathophysyology remains unexplained.Objectives: To analyze the prevalence of HS as identified by ultrasound as well as acanthosis Nigricans (AN) in two groups of obese patients; with or without presence of MS; by studying anthropom...