ESPE Abstracts

Introduction: Salivary androgens represent a non-invasive marker of puberty that may have utility in population studies as well as in the clinical arena.Objectives: To establish normal reference values of salivary androgens using LC-MS/MS and demonstrate the correlations between salivary androgens and pubertal development in boys.Methods: School-based adolescent cohort study with t...

Background: 16p11.2 microdeletion is most common chromosomal anomaly associated with syndromic obesity. The presence of a large number of flanking segmental duplications/low-copy repeat sequences with a high degree of sequence identity in the short arm of chromosome 16 (16p) leads to recurrent deletions and duplications as a consequence of non-allelic homologous recombination. A recurrent 600kb microdeletion is one of the most frequent genomic imbalances in 16...

Background: Congenital hyperinsulinism (CHI) is a chronic and complex rare endocrinopathy with dysregulated insulin secretion causing severe and recurrent hypoglycemia resulting in adverse neurologic and developmental sequelae in children. Current treatment options are limited and often inadequate to treat CHI. Dasiglucagon (DASI), a glucagon analog administered by subcutaneous continuous infusion, has demonstrated reduction in glucose infusion rate (GIR) in P...

Background and Aims: Thyroid hormones profoundly affect energy metabolism but their interrelation with food preference, which might contribute to childhood obesity development, are much less understood. Here we investigated if age-related changes of thyroid hormone levels are paralleled by specific modulation of food preference and potentially linked to the level of obesity in children and adolescents.Patients and Methods:</stron...

Introduction: Rare mutations of the ESR1gene, encoding the estrogen receptor alpha (ERα), have been shown to cause estrogen resistance in humans. To date, there are no effective therapeutic options. We report the case of a new inactivating mutation of ERα and provide evidence for a partial restoration of biological effects of estrogen.Methods: We performed clinical and biological phenotyping of the index case and sequenced the ESR1...

Context: The mouse ERα−/− knock-out model and rare human ESR1 gene mutations identified to date have demonstrated crucial role of ERα in control of energy homeostasis and glucose metabolism. Subjects with ERα deficiency show features of estrogen resistance (ESTRR) with continuous linear growth in adulthood.Patient: We describe a 20-year-old female, with unknown family history, who presented...

Background: Screening for autoimmune thyroid disease in children and adolescents with type 1 diabetes lacks consensus. Optimal screening methods should benefit the patients and reduce costs to healthcare.Objective and hypotheses: To, at diagnosis of type 1 diabetes, determine the predictive value of thyroid autoantibodies, thyroid function, islet autoantibodies, and HLA-DQ for autoimmune thyroid disease.Method: At diagnosis of type...

Background: In adult women, serum levels of AMH reflect both the number of small growing follicles and remaining primordial follicles. AMH levels range 15 fold between healthy girls. Interpretation of AMH is contentious due to minor intra-individual changes around time of pubertal onset despite continuous loss of primordial follicles.Objective and Hypotheses: To describe ovarian morphology (volume, follicles) in healthy girls and adolescents in relation ...

Background: Insulin/IGF1 signaling plays a critical role in central glucose bioavailability and lipid metabolism. An increase in glucose disposal can generate reducing agents through the pentose-phosphate pathway necessary for the synthesis of free fatty acids (FFA). Disturbances in lipid synthesis are related to the appearance of insulin resistance and diabetes. The insulin receptor substrate 2 (IRS2) deficient mice (IRS2−/−) is an excellent model to st...

Introduction: The diagnosis of a disorder/difference of sexual development (dsd) is an exceptional psychosocial situation. As the diagnosis is often made in childhood, the parents are the primary communication partners. In some cases, the impossibility of immediate sex determination of the child can be a traumatic experience with a negative impact on the relationship between the parents and the child, the couple and members of the entire family. It has been recommended by the ...