ESPE Abstracts

Beckwith Wiedemann syndrome (BWS) is a rare overgrowth disorder characterised by macroglossia, exomphalos, lateralised overgrowth, organomegaly, hyperinsulinism, and an increased risk of embryonic tumor during early life. In about 80% of BWS cases, molecular defects are identified at the imprinted 11p15.5 region which contains the IGF2 and the CDKN1C genes (most patients show methylation defects at either imprinting control region IC1 or IC2, or paternal unip...

Background: Congenital adrenal hyperplasia (CAH) and long-term glucocorticoid treatment may be associated with an increased risk of developing cardiometabolic sequelae such as abnormal glucose homeostasis, hyperlipidaemia, hypertension, cardiovascular (CV) disease, obesity and osteoporosis.Objectives: To study the current practice amongst expert centres for assessing cardiometabolic outcomes in adult patients with 21-hyd...

Background: Rogers syndrome or thiamine responsive megaloblastic anaemia (TRMA) with diabetes mellitus (DM) and deafness is an uncommon autosomal recessive disorder. We report the case of an eleven-month-old girl with TRMA.Case presentation: She was admitted to the hospital with paleness, hypotonia, diarrhoea and fever. She was born to first degree consanguineous Moroccan parents. Our patient medical history was relevant for hemolytic anaemia at the age ...

Background: Polymorphisms in several genes may be associated with a higher risk of obesity and non-alcoholic fatty liver disease (NAFLD).Objective: To examine the association of single nucleotide polymorphisms (SNPs) −238G>A, −1031 T>C and −863 C>A of Tumor Necrosis Factor-α (TNFA) gene; rs738409 C>G of patatin-like phospholipase domain containing 3 (PNPLA3) gene; +276 G>T and +45 T>G of Ad...

Introduction: The low-dose synacthen test (LDT) is widely used to assess central adrenal insufficiency (CAI); however, the total serum cortisol (C) cut-off value is controversial. A correct diagnosis of CAI is required, but overdiagnosis may lead to unnecessary hormone replacement therapy. Salivary cortisol (SC) reflects the levels of free serum cortisol and is a noninvasive alternative.Objective: To define a new cut-off value of serum cortisol in pediat...

In a retrospective study (1), we found that a GH<6.5 μg/L, IGF-I-WHO87/518 <30 μg/L and IGFBP-3<0.8 μg/mL confirmed GHD diagnosis with high diagnostic accuracy in neonates with clinical suspicion of GHD. GH and insulin negatively regulate IGFBP-2, and it was proposed to reflect GH status in the diagnostic work-out of GHD in childhood and adults. The accuracy of IGFBP-2 has not been set for neonates.Objective: To prospectively v...

Background: EPIGROW was a prospective European epidemio-genetic study in children with idiopathic short stature (ISS).Objectives: To identify (1) differences in frequencies of single nucleotide polymorphisms (SNPs) in growth related genes between ISS children and controls, and (2) associations between growth characteristics, IGF status and SNPs in these genes.Methods: Sequence data from EPIGROW was used to determine the difference ...

Background: Anti-Müllerian hormone (AMH) is produced by granulosa cells in small follicles prior to gonadotropin dependent growth and serum levels reflect the number of small antral follicles. There are currently no longitudinal data of individual AMH levels from infancy to adolescence.Aim: To evaluate whether AMH in infancy and childhood is associated with AMH levels and ovarian morphology peripubertal and in adole...

Background: The male Hypothalamic-Pituitary-Gonadal (HPG) axis is transiently active during the first months of life with surging serum concentrations of reproductive hormones. This period, termed minipuberty, promotes masculinization, including testicular, and penile growth, as well as further testicular descent in males. It appears to be essential for priming specific cell types, i.e. Sertoli-, Leydig-, and germ cells, including subsequent growth and maturat...

Objective: Merge and standardize the scarce data on molecular and phenotypic findings of mutations in the human leptin receptor (LEPR) gene causing a rare form of severe early-onset obesity.Methods: We summarized functional and phenotypic traits of LEPR mutations reported in the literature in a structured and comprehensive manner. Additional data was obtained from 6 subjects of our outpatient clinic not reported so far. Functionality of mutations was ass...