ESPE Abstracts

Rationale: Bronchopulmonary dysplasia (BPD) is a common complication after preterm birth that is associated with neurodevelopmental impairment. Neurofilament light chain (NfL) has been identified as a biomarker for neuroaxonal damage in preterm infants, but its relation with BPD has not yet been established. We hypothesized that BPD is associated with increased NfL levels at an early stage, indicative of early neuroaxonal damage....

Background: Obesity in adulthood is associated with shorter leukocyte telomere length, a marker of biological age that is also associated with age-related disorders, including cardiovascular disease and type 2 diabetes mellitus.Objective and Hypotheses: To investigate the relation between BMI in childhood and adolescence and telomere length, by determining the mean telomere length of leukocytes.Patients and Method: Seven hundred fo...

Background: Transient neonatal diabetes (TNDM) is commonly caused by a methylation loss in the 6q24 region, either in isolation or as multiple-loci demethylation due to ZFP57 gene mutation. TNDM is biphasic; usually resolves after 2–3 months but often recurs between age 4 and late adolescence.Case: The boy was born at 38 weeks of gestation (birth weight 3340 g, healthy consanguineous Turkish parents, unremarkable pregnancy). He presented at...

Background: We recently demonstrated that both ritonavir-boosted lopinavir (LPV/r) and lamivudine (3TC, a nucleoside analogue) given to breastfed infants can reduce the risk of post natal HIV transmission (ANRS 12174 trial; Nagot, Lancet 2016). In another setting we previously showed the occurrence of adrenal dysfunction in newborn perinatally exposed to LPV/r leading to acute adrenal insufficiency in premature babies (Simon, JAMA 2011).Objective and hyp...

Background: Based on growth screening rules, severe short stature (i.e. height SDS less than -3), at the age of more than 3 years, warrants diagnostic evaluation in specialized health care. In the absence of apparent underlying cause, targeted and eventually untargeted genetic studies have been proposed. However, the etiology of short stature at the severe end of the spectrum is poorly characterized.Methods: We ...

Background: Single nucleotide polymorphisms (SNPs) related to genes encoding the FSHβ subunit and FSH receptor (FSHB/FSHR) affect FSH production (FSHB c.-211G>T) and receptor sensitivity/expression in vitro (FSHR c.2039A>G & FSHR c.-29G>A). FSHR c.2039A>G, but not FSHR c.-29G>A, is associated with increased FSH levels in adult women, while there are conflicting results on F...

Background: The anogenital distance (AGD) is defined as the distance from the anus to genital tubercle. AGD is an established method for sex determination of pups in rodents, and in animal studies, AGD is strongly affected by androgen exposure during fetal life. In accordance, human studies have reported reduced postnatal AGD following prenatal exposure to anti-androgenic agents, suggesting AGD to be a sensitive postnatal read out of in utero exposure...

Background: Fibroblast growth factor 21 (FGF-21) is a complex molecule involved in lipid and glucose metabolism. FGF-21 shares biochemical pathways and sites of action with thyroid hormones. Current data correlate FGF-21 levels to thyroid function. The aim of the present study was to investigate possible associations among FGF-21 levels, resting metabolic rate (RMR), lipidemic profile and L-thyroxin replacement therapy treatment in children and adolescents wit...

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...

Introduction: Adolescent obesity is often characterized by comorbidities with cardiovascular effects in adulthood. Treatment options for these conditions are limited during adolescence. Basic research in animals and clinical data in adults have shown that Crocus Sativus (Krokos Kozanis) has a beneficial effect on dyslipidemia, obesity and type 2 diabetes.Aim: The study of the lipidemic profile in fasting state, in adoles...