ESPE Abstracts

Introduction: Previous studies showed that non-obese children and adults with Prader-Willi syndrome (PWS) have a low frequency of metabolic syndrome (MetS), while obese ones have a frequency similar to that of non-PWS obese. It is known that individuals born small for gestational age (SGA) have a greater predisposition to the development of MetS. Recent neonatal percentiles of subjects with PWS (Salvatoni et al, Am J Med Genet Part A, 2019) documented...

Introduction: Children with Prader-Willi syndrome present with short stature and obesity. However, very little is known about the role of this imprinted control region in the general population. This study aims to analyze the methylation status of the PWS imprinting control region (ICR) in placenta and its association with postnatal growth and obesity parameters in healthy children.Methodology: The methylation percentages of the PWS-ICR ...

Introduction: Variants in the N-terminal of the Indian-hedgehog gene (IHH) have been associated with Brachydactyly type-A1 (AD) and Acrocapitofemoral dysplasia (AR), only three of which have been functionally studied. However, heterozygous IHH variants, majority classified as variants of unknown significance (VUS) are being increasingly identified, not only in the N-terminal but also in the uncharacterized C-terminal, by NGS, in individuals with short...

A 8 years and 7 months old male presented with short stature related to his target height. No history of bones fractures. The patient was 120.7 cm (- 1.77 SDS). Physical exam demonstrated peculiar facies, relative macrocephaly, delayed tooth eruption and pectus carinatum. He referred during the clinical evaluation diffuse bone pain and weakness, mostly exacerbated by sport activity. A first diagnostic investigation had already been made showing low serum alkaline phosphatase a...

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...

Introduction: Complications are frequently reported post hypospadias repair and there is a need to understand the factors that influence their occurrence.Aim: The aim of this study was to identify the occurrence of complications in boys with hypospadias that are in the I-DSD Registry.Methods: Data from boys born with hypospadias between 2010-2020 were obtained from the I-DSD regist...

Introduction: Congenital adrenal hyperplasia (CAH) is the most common genetic condition in the spectrum of differences of sex development (DSD). Surgery in DSD is a controversial topic and there is no consensus if to perform surgery, how to perform surgery, and when to perform surgery. The current study was designed to evaluate the current practice in CAH related surgical practice in girls.Patients and Methods: All cases...

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...

Aim: Recommendations for the management of Congenital Adrenal Hyperplasia (CAH) outline a target 17-OH Progesterone (17OHP) of 12-36nmol/l, but do not specify target concentrations for Androstenedione (D4). We aimed to study the temporal variations of these biomarkers in patients from different geographical regions.Method: This retrospective multi-centre study, including 21 centres (14 countries), analysed serum biomarke...

Introduction: Continuous Glucose Monitoring (CGM) is an asset for patients with type 1 DM. The Dexcom G6 is FDA approved for use in patients 24 months and older. This CGM does not require any calibrations or point of care interventions and lasts up to 10 days when inserted into the subcutaneous tissue. We present a case of a 17 month-old patient started on CGM (Dexcom G6), with subsequent improvement in glucose variability and continued excellent glycemic cont...