ESPE Abstracts

Background: BoneXpert software calculates bone health index (BHI) from cortical thickness and mineralisation of three metacarpals, and bone age (BA) using 13 bones: Radius, ulna and bones in ray 1, 3, 5. Strong correlations between BoneXpert BHI and dual-energy x-ray absorptiometry (DXA) and peripheral quantitative computed CT (pQCT) measurements are reported 1. Low bone mineral density (BMD), measured by DXA, and improvement with GH is described in childhood GH deficiency (GH...

Background: Constitutional delay in growth and puberty (CDGP), the most common cause of short stature in children, is a transient state of delayed growth, skeletal maturation and attenuated pubertal growth spurt. It is not always easy to differentiate from GH deficiency (GHD) even with robust clinical and auxological assessment, measurement of IGF1 and bone age evaluation Bone health index (BHI) is a quantitative measure of bone health calculated from a hand and wrist X-ray us...

Background: An adrenal crisis (AC) is a life-threatening complication of congenital adrenal hyperplasia (CAH). Despite modern therapies, children with CAH still present with symptomatic adrenal insufficiency (AI) and AC.Objective and hypotheses: The aim of the study was to determine the spectrum of symptoms and signs of AI in children with diagnosed CAH who were admitted to hospital for an acute illness, as well as to evaluate the use of stress dosing an...

Background: Gonadoblastoma is a rare tumour of the gonads presenting in childhood or adolescence. It is a lesion composed of a mixture of germ cells at different stages of maturation, with low malignant potential. It is associated with disorders of sex development (DSD), most commonly Turner mosaic syndrome with Y chromosome material (TMSY), and 46XY gonadal dysgenesis (GD). Little is known about the natural history and incidence of this rare tumour.Obje...

Background: Mitchell Riley syndrome is a rare syndrome caused by mutations in the RFX6 gene, resulting in neonatal diabetes, intestinal atresia, pancreatic abnormalities, and biliary hypoplasia. RFX6 is a winged helix transcription factor that is expressed in the developing pancreas and in the gut endoderm. Previous eight case reports highlight poor outcomes with usually a fatal course in infancy.Case presentation: Twin 2 of a dichorion...

Recently, pathogenic biallelic variants in the gene encoding DNA polymerase epsilon catalytic subunit 1 (POLE1), have been described in 15 individuals from 12 families, including members of 3 Irish families. These loss-of-function mutations cause POLε deficiency, thus impairing DNA replication. All reported cases share the same heterozygous intronic variant (c.1686þ32C>G) as part of a common haplotype, in addition to a different loss-of-function variant in the ot...

The 1st lockdown from March to May 2020 probably led to an increase in the number of cases of idiopathic central precocious puberty in several European countries. Two Italian studies showed this, as well as a Spanish and a Turkish one. We performed a retrospective study with all the children who came to our department for a 1st appointment or a check-up for pubertal signs between 01/04/2017 and 31/03/2021. We checked the data of 765 files and kept only the children with a diag...

Gender dysphoria indicates a psychological distress due to any incongruence between biological sex and gender identity, while transgender identity refers to an individual, whose gender identity is the opposite of the biological sex. The number of gender dysphoric youth seeking hormonal care seems to rise worldwide. Therefore, numerous bioethical and medical controversies are raising about possible side effects of hormonal therapies, including interference with brain developmen...

Data on the birth parameters of patients with growth hormone deficiency are contradictory; recent studies suggest that congenital growth hormone deficiency is associated with impaired fetal growth. The main objective of this study was to describe the birth parameters of children with GH-1 gene deletion.This study included 13 patients (of 10 families) for whom a homozygous (or compound heterozygous) deletion of the entire GH1 gene has been identi...

Background: Vesico-ureteral reflux (VUR) is the most common urologic abnormality seen in children. It represents the backflow of urine from bladder to upper urinary structures due to a defect in closure of uretero-vesical junction. This condition predisposes children to repetitive pyelonephritis associated with renal scarring.Objective: Studies are continuously searching for the potential effect of VUR on growth. We aimed to assess growth indices: height...