ESPE Abstracts

Background: Vitamin D may have cardio-protective properties due to its biological actions. In children, observational studies linking actual vitamin D level and blood pressure have yielded conflicting results. Whether early life vitamin D exposure may elicit a programming effect on later systolic blood pressure (SBP) and diastolic blood pressure (DBP) needs further investigation.Objective and hypotheses: We investigated whether higher levels of cord 25-h...

Background: Vitamin D deficiency can cause rickets and impaired bone growth in infants. In India, randomization to higher vitamin D supplementation doses in pregnancy led to decreased anterior fontanelle and increased head circumference at 0 and 9 months.Objective and hypotheses: To investigate the impact of cord 25-hydroxyvitamin D (25(OH)D) concentrations on cranial measures.Method: In a Danish prospective birth cohort of 2549 mo...

Background: The prevalence of glucose dysregulation in children treated with GH is not well established.Objective and hypotheses: To evaluate the prevalence of glucose dysregulation in children with growth disorders (GH deficiency (GHD), Turner syndrome (TS), small for gestational age (SGA)) treated with GH (Norditropin, Novo Nordisk) enrolled in NordiNet International Outcome Study (IOS) (NCT00960128), a non-interventional study evaluating safety and ef...

Background: Insulinomas are extremely rare tumors in children and an uncommon first manifestation of the MEN1 syndrome. An early clinical and genetic diagnosis is very important for the appropriate medical assessment and family counseling. In children, insulinomas are usually benign tumors with only a few reports of malignant cases.Objective and hypotheses: To investigate clinical features, genetic and morphological characteristics of 12 children with pr...

Introduction: Noonan syndrome (NS) and Turner syndrome (TS) are distinct genetic disorders with similarities in phenotype, including short stature. The NordiNet® IOS and the ANSWER Program® are observational studies evaluating effectiveness and safety of GH treatment in real-world practice.Methods: The study population included children with NS or TS with puberty recordings, enrolled in NordiNet® IOS or ANS...

Background: Congenital adrenal hyperplasia (CAH), due to 21-hydroxylase deficiency is one of the most common monogenic autosomal recessive disorders with an incidence of one in 15 000, and even more common in some populations. Do carriers have a survival advantage?Objective and hypotheses: The HPA axis has been reported to be more active in CYP21A2 carriers, and possibly enable a more rapid return to homeostasis. A compensatory increase in CRH s...

Background: Kabuki syndrome (KS) is a rare multiple congenital malformation and intellectual disability syndrome. KS is caused by pathogenic variants in the genes KMT2D or KDM6A. In 0.3-4% of patients, KS is reported to be associated with hyperinsulinemic hypoglycemia. The objective of this study was to characterize the clinical, biochemical and molecular data of children with KS and hyperinsulinemic hypoglycemia.<s...

Background: Adolescence is often a period of worse metabolic control and less wellbeing in diabetic children. We studied global (GW) and diabetic-related (DRW) wellbeing in diabetic adolescents and the influence of sex, age, ethnic origin, family composition (single- or two-parent family), family income and metabolic control.Method: 133 (71 girls, 120 autochthonous, 20 treated with CSII, 107 from a two-parent family, 68 from families with a monthly incom...

Background: Congenital combined pituitary hormone deficiency (cCPHD) is the loss of ≥2 pituitary hormones caused by genetic or prenatal factors.Methods: For the period 1996–2020, patients with cCPHD were identified from the Danish National Patient Registry and the registries at the four Danish hospitals approved for the management of cCPHD. Retrospective hospital file reviews were performed to validate the diagn...

Background: Vitamin D deficiency in children clinically manifests as rickets causing growth impairment and bowing of the long bones, potentially increasing the ratio between crown-rump length and length (CRL:L) or sitting height and height (SH:H).Objective and hypotheses: We investigated whether CRL:L in 19-months-olds and SH:H in 36-months-olds were lower with higher cord 25hydroxyvitamin D (25OHD).Method: Participants were includ...