ESPE Abstracts

Background: Approximately 70% of transient neonatal diabetes mellitus (TNDM) are caused by abnormalities in the imprinted locus at chromosome 6q24, and the remaining 30% are caused by heterozygous mutations in the KATP-channel genes, ABCC8 or KCNJ11. Only a few cases of TNDM are reported to be caused by biallelic, recessive mutations in the insulin (INS) gene.Objective and hypotheses: To explore the role of INS gene mutations as a cause of tra...

Background: Hyperinsulinemic androgen excess is the most common cause of hirsutism, acne, seborrhea and menstrual irregularity in adolescent girls. The ovarian androgen excess originates most often from an absolute or relative excess of fat (in adipose tissue and in organs such as the liver) and from the ensuing elevations in insulinaemia and gonadotropin secretion. There is no approved therapy for androgen excess in adolescent girls. The prime recommendation is to reduce body...

Background: IGFI regulates early postnatal growth of preterm infants and also plays an important role in growth in childhood. Very-low-birth-weight (VLBW) infants are at risk for reduced growth in early childhood.Objective and hypotheses: To compare IGFI and the correlation to growth parameters in infancy and early childhood in VLBW and term appropriate for gestational age (AGA) infants.Method: We included 41 VLBW children and 64 t...

Background: Very Low birthweight (LBW) is defined as birthweight below 1.5 kg) and compared to AGA they are reported to be at a higher risk to develop slow postnatal growth outcomes.Objectives: To describe the postnatal growth of 120 VLBW newborns who had birth weight < 1.5 kg. linear growth trajectories of VLBW infants were compared with normal infants (WHO curves) during the first 24 months of life.<p class="abs...

Introduction: The selection of insulin therapy for children with type 1 diabetes (T1DM) poses a challenge, particularly in low- and middle-income countries. This study aimed to assess the utilization of insulin analogues in diabetic children and identify factors associated with achieving glycemic goals.Methods: In a retrospective study involving 80 children with T1DM, the impact of transitioning from human insulin to ins...

Background: Low-dose adrenocorticotropic hormone stimulation test (LDST) is commonly used for evaluating the adequacy of hypothalamo-pituitary-adrenal axis functions. However, there is still no standardization between protocols used in different centres.Objective: To contribute to the optimal time of highest cortisol response in the LDST in children.Design: A prospective study of L...

Background: Genetic factors play an important key role in regulating the timing of puberty. The premature activation of pulsatile release of gonadotropin-releasing hormone(GnRH) before 8 and 9 years of age in girls and boys causes central precocious puberty(CPP). Pathogenic variants in DLK1 are associated with isolated familial CPP. Here, we report three siblings with a diagnosis of CPP with novel variant in DLK1.Case Report:</st...

Background: The genetic etiology of Type 1 Diabetes (T1D) is well recognized, with over 60 loci being identified to date, mainly through genome-wide association studies (GWAS). Most of these genetic associations involve common variants, while a sizable portion of the missing heritability of T1D could be attributed to unidentified rare single nucleotide polymorphisms (SNPs) (minor allele frequency (MAF) < 5%). The recent availability of large human whole genome sequencing d...

Introduction: The nutritional status of a child is essential for the overall development and in particular for the statural growth. It was previously reported that growth hormone (GH) administration in children with growth hormone deficiency (GHD) could have a beneficial effect on body mass index (BMI) in both underweight and overweight children, suggesting a complex interplay between nutrition and growth. Therefore, the aim of the study was to analyze the influence of BMI on ...

Introduction: The annual incidence of Langerhans cell histiocytosis (LCH) is 5 per million in admission with a diagnosis of isolated central diabetes insipidus (CDI) in children under the age of 15. Here, the process leading to the diagnosis of LCH at presentation with isolated CDI, imaging findings, and the sellar erosion, which has not been previously reported in the literature, will be discussed.Case presentation: A 4-year-5-month-old...