ESPE Abstracts

Patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), develop autoantibodies to multiple self-proteins. The patients have high titer autoantibodies to multiple cytokines, most prominently to type 1 interferons and cytokines associated with Th17 cell functions. In addition to these signature autoantibodies, APECED patients develop autoantibodies to many other self-proteins characteristic to autoimmune diseases and display broad autoantibody repe...

Central hypothyroidism (CeH) can be defined as a lower than desirable secretion of thyroid hormone by a normal thyroid gland resulting from (quantitative or qualitative) insufficient TSH secretion. Causes are congenital and acquired functional or anatomic defects of the hypothalamus, pituitary gland or both. CeH can be difficult to diagnose, especially in children without a history of brain defects or brain damaging treatment (e.g. irradiation), and when plasma FT4 concentrati...

Background and aim: Metformin is widely used in Type 2 diabetes, with increasing reports of a potential bone protective role. We investigated the role of AMPK in mediating the effects of metformin on mesenchymal stem cell (MSC) differentiation to either osteoblasts or adipocytes.Methods: Confluent mouse MSCs (C3H10T1/2), wild type (WT) and AMPK knockout (KO) mouse embryo fibroblasts (MEFs) were treated with metformin(500 μM), AMPK-activator A769662(...

Introduction: The Body Mass Index (BMI) is an essential indicator for the nutritional assessment of children and reflects the exposure to health conditions that are harmful to the development of this population.Objective: To analyze the temporal trends of the BMI of Brazilian children aged 5-10 between 2010 and 2022.Patients and methods: Descriptive ecological study. Data obtained ...

Introduction: Protein tyrosine phosphatase non-receptor type 22 (PTPN22) is a well-established genetic locus of type 1 diabetes (T1D). The aim of the present study is to compare the methylation level of PTPN22 between children and adolescents of Greek origin with T1D and healthy controls.Patients and Methods: Twenty T1D participants and 20 age-/gender-matched healthy youngsters were enrolled. DNA was extracted from white blood cells, the...

Background: The male Hypothalamic-Pituitary-Gonadal (HPG) axis undergoes a transient activity phase during the first months of life with surging serum concentrations of reproductive hormones. Theoretically, the hormonal surge could represent a passive postnatal feedback to the withdrawal from the high sex steroid levels in pregnancy. However, we believe that minipuberty rather represents an active, tightly genetically-regulated biological process. We therefore...

Background: In minipuberty, the male hypothalamic-pituitary-gonadal (HPG) axis is transiently activated triggering a surge in reproductive hormones causing growth of the genitalia. Longitudinal individual growth of the infant penis during minipuberty and associations to the HPG axis and IGF-I have not been thoroughly assessed.Aim: To describe the development of penile length and width as well as their relation to serum c...

CHOPS syndrome is a rare monogenic disorder caused by heterozygous gain-of-function variants in AFF4. The 13 patients reported to date share a highly recognizable phenotype: Coarse face, Cognitive impairment, Heart defects, Obesity, Pulmonary involvement, Short stature and Skeletal dysplasia. AFF4 encodes a scaffold protein involved in transcriptional elongation and critical for gene expression regulation during embryogenesis. Notably, it appears to regulate adipogenic differe...

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 ...

Introduction: Adequate nutritional status of adolescents is essential for their healthy development, with health repercussions in both short-term and adult life.Objective: To analyze the temporal trends of the BMI of Brazilian adolescents (10 to 19 years old) between 2010 and 2022.Patients and methods: Descriptive ecological study. Data obtained from e-SUS Primary Care. The BMI cat...