ESPE Abstracts

Objective: To present a patient with hypercalcemia caused by a parathyroid adenoma and a deletion of the VDR gene.Case clinic: The case is that of a 13-year-old male who presented with hypercalcemia, muscle weakness, nephrocalcinosis, two pathological fractures and a family history of nephrocalcinosis. Physical examination was unremarkable, except the presence of a fracture of the left femur. Laboratory findings: Total s...

Background: Neonatal vitamin D deficiency (VDD) can result in symptomatic hypocalcemia, seizures and cardiomyopathy and has been associated with reduced bone mineralization in childhood, but is potentially preventable with antenatal cholecalciferol supplementation. Single nucleotide polymorphisms (SNP) in the vitamin D metabolism pathway are associated with serum 25-hydroxyvitamin D [25(OH)D] in adulthood. We assessed whether maternal and/or offspring SNPs in ...

Background: Prevalence and severity of obesity and associated comorbidities are increasing in adolescents. Data on neck and upper arm (UA) circumference in addition to established anthropometric measures to define cardiometabolic risk are limited to date.Methods: Data from Phase I of the EU-funded PreSTART-study (trial registration number NCT02545140) was applied. Demographic, clinical, biochemical and lifestyle data were collected in adolescent...

Background: Hypoglycaemia due to congenital hyperinsulinism (CHI) usually presents early (E-CHI) in the neonatal period, but late presentation (age >1 month) (L-CHI) also occurs. Adverse neurodevelopment is well recognised in both early and late CHI, but differences between both groups are not known.Objective and hypotheses: We examined a cohort of children with E-CHI and L-CHI to test neurodevelopmental outcomes in mid-childhood.<p class="abstex...

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...

Background: NSIAD is a rare genetic cause of hyponatremia, due to activating mutations in AVPR2 gene, encoding the Arginine Vasopressin Receptor Type 2, and located on Xq28. Of the fewer than 30 reported cases, most have been managed with fluid restriction and urea.Objective and hypotheses: Illustration of the presentation of a family with this genetic abnormality and approach to management.Method: The clinical, biochemical and gen...

Background and Objectives: Enlargement and cystic changes in ovaries of patients with longstanding overt hypothyroidism has been observed in numerous case reports. But there is limited data about the effect of subclinical hypothyroidism (SH) on ovarian volume and ovarian cyst formation. We evaluated the relationship between serum thyroid stimulating hormone (TSH) level and ovarian volume and sonographic appearance in prepubertal girls with SH.<p class="abs...

Objectives: To evaluate the effect of combined treatment with GnRH analogue (GnRHa) and recombinant human GH (rhGH) on the linear growth in mid/late pubertal girls at great bone ages with central precocious puberty (CPP) or early and fast puberty (EFP). To investigate the relation between C-type natriuretic peptide (CNP) signaling pathway and GH’s effect on linear growth in these girls. Methods 22 girls were diagnosed as CPP or EFP, whose bone ages were older than 11.5 ye...

Introduction: Few studies have been published comparing the liquid and tablet formulations of L-T4 in pediatric patients, with a short follow-up period. Both formulations seemed to produce a rapid normalization of thyroid fuction with a tendency of a greater TSH inhibition in children taking the L-T4 liquid drops. The aim of our study is to compare the long-term effectiveness and saftey of both liquid and tablet L-T4 therapy in CH patients up to 3 years old via a multicenter s...

Introduction: Patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) have specific plasma and urinary steroid patterns, with 11-oxygenatedC19 steroids established as key adrenal-specific androgens. Monitoring glucocorticoid (GC) replacement remains a challenge in the absence of reliable biomarkers.Aim: To reassess the urinary steroid profile of children with CAH in relation to plasma ...