ESPE Abstracts

Context: Congenital hypothyroidism from thyroid dysgenesis (CHTD) is mainly a sporadic and non-syndromic condition occurring in 1:4,000 live births. In contrast to rare cases of syndromic monogenic CHTD, non-syndromic (NS) CHTD shows low familial recurrence risk (~2%) and low concordance rate between MZ twins, suggesting a two-hit scenario combining post-zygotic events with either a de novo monogenic mutation or incomplete penetrance of polyg...

Background: Minipuberty denotes a period 1–6 months postnatally in boys during which a transient activation of the hypothalamic-pituitary-gonadal axis is observed. This early hormone activation can be used diagnostically in patients suspected of pituitary deficiency and differences in sex development. However, its significance for prediction of reproductive function in healthy young men is unknown.Objective: To eval...

Purpose: We aimed to determine the frequency and distribution of intracranial pathologies in patients over 8 years of age by evaluating MRI images of patients diagnosed with early puberty-rapidly progressive.Materials and Methods: The study comprised 118 female patients diagnosed with precocious puberty (PP) and rapidly progressive early puberty (RPEP). The onset of puberty in girls before the age of 8 years is defined a...

Background: Congenital hyperinsulinism (HI) is a group of insulin secretion disorders with highly heterogeneous genetic aetiologies, which may significantly impact on treatment and follow-up. Genetic diagnosis is unsolved in up to 50% of the individuals, but the benefits of retesting including all the recent genetic discoveries has not been previously assessed.Aim: We examined the effectiveness of rescreening the known H...

Background: Genomic imprinting is the process by which preferential methylation of one parental allele results in parent of origin specific expression of particular genes. Methylation is established during gametogenesis and is maintained throughout development. Alterations in any of the processes in the establishment and maintenance of methylation can lead to aberrant imprinting, which can result in either reactivation of the original silent allele or the sile...

Introduction: Primrose syndrome was defined in 1982. It is characterized by characteristic facial appearance, macrocephaly, global developmental delay, intellectualdisability and calcification in the outer ear. It occurs with loss-of-function mutations in the ZBTB20-gene. This gene is a transcriptional gene suppressor regulator and is effective on neurogenesis, glucose homeostasis, and postnatal growth. Here, a case with Primrose syndrome will be presented.</p...

Background: The COVID-19 pandemic continues to impact healthcare overall particularly in relation to diabetes. Initial studies showed delays in emergent healthcare utilization, decreased preventative care visits, and more severe presentations of new onset diabetes. However, the pathophysiologic relationship between COVID-19 and type 1 diabetes is not yet well understood.Objectives: Our primary objective was to compare th...

Background: Maternal triglycerides, fatty acids, and their metabolites together with sugars and metabolic intermediates may play a role in newborn outcomes. Furthermore, maternal amino acids, acylcarnitines, lipids and fatty acids and their metabolites are associated with cord C-peptide independent of maternal BMI and glycemia, highlighting the potential contribution of maternal metabolites to offspring outcomes. This study examined the associations of materna...

Introduction: Physiological pubertal gynecomastia is common in adolescents aged 13-14 years. Most physiological pubertal gynecomastia regresses spontaneously within 1-2 years. In studies: If it lasts more than 2 years, if prepubertal has started, endocrine evaluation is recommended. Sex differentiation disorders or genital abnormalities such as increased aromatase activity, adrenal/testicular neoplasia, partial androgen insensitivity syndrome and Klinefelter s...

Background: Good glycemic control prevents long-term complications of microvascular and macrovascular diseases in type 1 diabetes (T1DM).We aimed to investigate whether our patients had A1c values <7.5% as recommended by ISPAD and how therapy modality, duration of diabetes and pubertal status affected the metabolic control of our patients. We also set out to compare our quality of care with our results of 2008 and with other publ...