ESPE Abstracts

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...

Background: Obesity in childhood and adolescence represents a major health problem of our century, and accounts for a significant increase in morbidity and mortality in adulthood. In addition to the increased consumption of calories and lack of exercise, accumulating evidence suggests that childhood obesity is strongly associated with prolonged and excessive activation of the stress system.Objective and hypotheses: The aim of our study was to assess the ...

Background: The prevalence of obesity has increased dramatically in Greece in the last decades, and more than 30% of children and adolescents are currently overweight or obese. Obesity is associated with decreased circulating 25-hydroxyvitamin D concentrations, which might predispose to metabolic syndrome and cardiovascular morbidity and mortality.Objective and hypotheses: To determine serum 25-hydroxyvitamin D concentrations and their relationship to ca...

Introduction: Thyroid hormone resistance (THR) is a syndrome characterized by decreased response to thyroid hormones in target tissues. Thyroid hormone receptor resistance alpha (THRRα) is an autosomal dominant inherited disease that is characterized by near-normal thyroid function tests (TFT) and tissue-specific hypothyroidism, and is likely to be missed in practice.Case: 10-month-old male patient was referred to ...

Introduction: Congenital generalized lipodystrophies (CGL); autosomal recessive disorders characterized by dyslipidemia and almost complete absence of body fat associated with insulin resistance. It develops due to mutations in AGPAT2, BSCL2, CAV1, PTRF, PCYT1A and PPAR, genes.CGL type 4 results from PTRF-CAVIN gene mutation. Unlike classical CGL, myopathy, flat and skeletal muscle hypertrophy, heart rhythm disorders (sudden death) and skeletal abnormalities a...

Beckwith-Wiedemann syndrome (BWS) is a congenital tumor-predisposition syndrome of which around 70% develops because of the methylation defects in the imprinted genes at chromosome 11p15.5. KCNQ1OT1 hypomethylation is the most common underlying genetic aberration in sporadic the BWS, accounting for 50% of the sporadic cases but confers the least tumor risk. We present a 5 month-old girl who presented with an excessive weight gain, cushingoid face, arrested gro...