ESPE Abstracts

Background: The hCG stimulation test is a valuable method for assessing androgen production but there is a need to explore its utility in assessing androgen responsiveness and long-term prognosis.Objective and hypothesis: Our aim was to explore the effect of hCG stimulation on the peripheral transcriptome in boys undergoing investigation for DSD.Method: Thirteen boys undergoing investigation for 46,XY DSD received i.m. hCG 1500 U o...

Background: Being born small for gestational age (SGA) is linked with higher systolic blood pressure (SBP). Fetuses with growth restriction (FGR) may be either SGA or appropriate size for gestational age at birth. However, it is not known which factors contributing to size at birth influence the relationship with SBP.Aim: To determine whether antenatal markers of FGR can predict the upper quartile of childhood SBP.<p...

Background: Many studies have associated being born small for gestational age (SGA) [and by implication having suboptimal fetal growth (SFG)] to childhood cardiometabolic risk markers. However, not all growth-restricted pregnancies result in SGA. In the Manchester BabyGRO study, we focussed on pregnancies at risk of SFG with most babies born AGA, and using transcriptomic and metabolomic data we have identified pathways related to higher child systolic blood pr...

Background: Children with more than one AID (pediatric polyautoimmunity) may have a stronger genetic component than children with a single AID. PTPN22 C1858T SNP has been associated with multiple different AIDs in adults and children.Objective and hypotheses: Evaluate the association of PTPN22 C1858T gene polymorphism with pediatric polyautoimmunity.Method: A cross-sectional study was performed in subjects with an AID of p...

Background: X-Linked hypophosphatemic rickets (XLH) is a disorder of phosphate homeostasis, characterized by renal phosphate wasting and hypophosphatemia, with normal to low 1,25-dihydroxy vitamin D3 serum levels. PHEX is the gene defective in XLH and different mutations and genomic rearrangements have been described in different families affected by this disease.Objectives: To detect inactivating mutations in the PHEX g...

Introduction: Neck Circumference (NC) has been pointed out as an important indicator in the evaluation of overweight and may be useful to determine the level of obesity and metabolic alterations.Objective: To verify the relationship between the NC and the lipid profile in adolescents with overweight or obesity.Methods: A cross-sectional study with adolescents between 10 and 19 years old, of both sexes attended at the Endocrinology ...

Introduction: The molecular aetiology of familial glucocorticoid deficiency (FGD) is very heterogeneous. A recent report of a genetic variant in TXNRD2, the gene encoding thioredoxin reductase Type 2, in a South Asian kindred with FGD suggests that the maintenance of redox balance may be critical for adrenocortical function. We present the second report of an individual from another south Asian family harbouring a different pathological variant in <em...

Introduction: Recent studies point to the existence of androgen-responsive non-coding (nc) RNAs in peripheral blood mononuclear cells (PBMC) RNA.Aim: To quantify the androgen-responsive gene expression of SNORD5 and RNY5 and investigate their relationship to the testosterone (T) rise following hCG stimulation in boys with no genetic evidence of androgen insensitivity.Methods: 19 bo...

Introduction: Prader-Willi Syndrome (PWS), a common syndromic form of childhood obesity, is characterized by failure-to-thrive during infancy followed by progressive hyperphagia and obesity in childhood. The pathogenesis of hyperphagia and weight-gain in PWS is poorly understood and management strategies have had variable and limited success. Several studies support an etiological contribution of dysbiotic gut microbiota in the metabolic derangements of obesit...

Introduction: Among Disorders of Sex Development (DSDs), XY DSD, represents the most challenging group in terms of identifying a diagnosis.Objectives: The aim of the study was to determine the prevalence of biochemical and molecular genetic tests in a cohort of boys with XY DSD and to collate the phenotypes of patients with results of laboratory investigations and presence of associated abnormalities.Methods: New and existing cases...