ESPE Abstracts

The daily treatment of pediatric patients with diabetes is challenging for patients, parents and medical teams. This is probably the reason why most patients all over the world do not meet the targets of glucose control defined by world organizations like ISPAD, EASD and the ADA as the safe zone for preventing complications, extending life expectancy and improving quality of life. New emerging technologies are in the pipeline of both academic centers and industry that promise ...

Neonatal diabetes is defined by hyperglycemia either isolated or as a part of a syndrome, diagnosed within the first 6 months of life. This is a monogenic form of diabetes resulting from mutations in a number of different genes encoding proteins that play a key role in the normal function of the pancreatic β-cell. To date, over 20 genes have been identified in about 60–75% of cases. A significant breakthrough was the recognition that a large portion of patients can b...

Background: Congenital hypothyroidism(CH) is the most common neonatal endocrinological disorder in the world. Although most of the CH is sporadic, some genetic defects are responsible from the etiology. The aim of this study was to determine the genetic and etiological factors of CH.Methods: 49 patients(female;n=24), from 24 families were included in the study. The data, collected retrospectively, consisted ...

An oral GH secretagogue (GHS), LUM-201, stimulates GHSR-1a receptor to enhance endogenous GH pulsatile release. In moderate iPGHD, pulses of GH are found but at reduced levels, resulting in decreased IGF-1 and poor growth. The impact of LUM-201 on GH profiles during treatment of such children has not been reported.Objective: To characterize GH profiles, defined by deconvolution analysis, based on GH concentration in a time series and its...

Objectives: The incidence and importance of endocrine comorbidities related to cystic fibrosis-related diabetes (CFRD) and bone diseases (CFRBD) increase with age. Recent studies have indicated that insulin deficiency in type 1 diabetes mellitus(T1D) may be associated with an increased risk of osteoporosis. Our study aims to evaluate the relationship between glucose metabolism and bone health in pediatric cystic fibrosis patients.<strong...

Pseudohypoparathyroidism (PHP) and related disorders lead to a wide spectrum of abnormal physical characteristics, neurocognitive and endocrine abnormalities. PHP (including all subtypes), pseudoPHP, acrodysostosis and progressive osseous heteroplasia refer to heterogeneous disorders characterized by physical findings, differently associated in each subtype, including short bones, short stature, stocky build, subcutaneous ectopic ossifications, as well as laboratory abnormalit...

Aim: Homozygous mutations in the HAX1 gene have been described in autosomal recessive severe congenital neutropenia (CN). In this rare disease, ovarian failure has been reported only in 9 female patients in the literature. There is insufficient data on childhood patients with HAX1 deficiency and the age of onset of ovarian failure is unknown. The aim of this cross-sectional study was to evaluate the gonadal functions and pubertal development in paedia...

Background: MURCS association is a rare developmental disorder that primarily affects the reproductive and urinary systems. MURCS is an acronym which stands for (MU)llerian, (R)enal, (C)ervicothoracic (S)omite abnormalities. Males and females with MURCS association often have short stature and might suffer from hearing loss. MURCS anomalies are present at birth but may not be noticed until puberty, and then present as primary amenorrhea, or discovered incident...

NMDA (N-Methyl-D-aspartic acid) receptors have been shown to control the timing of sexual maturation in laboratory animals. Therefore, variants in genes impacting NMDA receptor signaling might be predicted to affect human puberty. We studied an extended family with extremely delayed puberty (menarche at 16.5 - 18 years for female family members and pubertal onset at 16 years for male family members). Exome sequencing revealed a rare missense variant (F900V) in DLG2, w...

Background: Achondroplasia (Ach) is a rare growth disorder caused by a point mutation in the fibroblast growth factor receptor 3 gene that results in dysproportionate extreme short stature and can lead to a wide range of multisystemic complications throughout the individual's life with reduced quality of life. In the past, orthopaedic and neurosurgical therapies have been developed to partially improve mobility, reduce pain and prevent neurological disabi...