ESPE Abstracts

Introduction: Despite existing guidelines there is no unified approach to glucocorticoid and mineralocorticoid replacement in congenital adrenal hyperplasia (CAH). Consequently, treatment varies in adults and children as well as across countries.Objective: We used data from the I-CAH Registry to identify geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids of children and adul...

Aims: Historical I-CAH data shows considerable variation in the management of 21-hydroxylase deficiency (21-OHD) congenital adrenal hyperplasia (CAH) in infancy despite existence of several guidelines. Using the I-CAH registry we analysed contemporary early infancy natural history data, creating benchmarks as part of continuous quality improvement.Methods: Of 136 infants born in 2018-2023 and treated for 21-OHD CAH withi...

Objective: Metabolic programming occurs during early life and nutritional factors are known to have long-lasting influences on metabolic health. We investigate associations between insulin-like growth factor I (IGF-I), leptin and adiponectin during infancy and metabolic markers in the same children at six years of age.Method: The Swedish longitudinal Halland Health and Growth birth cohort study is population-based, origi...

Background: Generally, diabetic nephropathy onsets and progresses within 5–10 years after DM onset resulting in chronic kidney disease (CKD) causing death in every 4–5th patient with type I DM. Molecular-genetic studies of endogenous/genetic CKD risk factors are of high relevance in understanding of pathogenetic mechanisms underlying formation of nephrosclerosis, and in improvement of interventions.Objective and hypotheses: To assess renal func...

Background: Vitamin D dependent rickets type I (VDDR1) is an autosomal recessive disorder caused by mutations in the 25-Hydroxyvitamin-D3 1-α-hydroxylase gene(CYP27B1).Objective and hypotheses: To evaluate clinical characteristics and molecular genetic analysis of the pediatric patients with VDDR1 who were being followed at Diyarbakir Children’s State Hospital, Turkey.Method: VDDR1 diagnosis was consid...

Introduction: Autoimmune Polyglandular Syndrome Type I (APS1) is a rare condition caused by mutations in the AIRE gene (autoimmune regulator). The diagnosis is challenging and delayed due to its non-specific clinical manifestations such as candidiasis, hypoparathyroidism and hypoadrenalism. More than a hundred mutations of this gene have been described and hereby we present a girl who was found to have a novel mutation of AIRE gene with patho...

Introduction: Autoimmune polyendocrine syndrome type I (APS-1) also called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic autosomal recessive disease known by the triad of the major components hypoparathyroidism, primary adrenocortical insufficiency and chronic mucocutaneous candidosis. However, many minor diseases could be present such as other endocrine manifestations (gonadal insufficiency, DM type 1, thyroid dis...

Introduction: Preterm delivery may comport blood serum Insulin-like Growth Factor-I (IG1) decrements and lower body temperature during the first days of postnatal life of the human newborn (NWB). We evaluated the role of preterm delivery in associations between axillary temperature (TEMP) and IG1 in NWBs without life-threatening disease.Methods: NWBs with any among total parenteral nutrition, blood transfusion, therapeutic hypothermia, life-threatening d...

Background: Osteoporosis in children with osteogenesis imperfecta type 1 (OIT1) and acute lymphoblastic leukaemia (ALL) is characterised by high bone turnover. However the ability of spontaneous healing and reshaping of bone is retained in ALL even in the absence of bisphosphonate (BP) therapy, but impaired in OI.Objectives: To compare the response to BP therapy in children with ALL and OI.Methods: Retrospective review of children ...

Background: Mucopolysaccharidosis I Hurler (MPS-IH is an inborn error of metabolism arising from the defective activity of alpha-L-iduronidase, an enzyme involved in the degradation of glycosaminoglycans (GAGs). As a result, the pathological lysosomal storage of GAGs in several tissues leads to multi-systemic complications, such as hepatosplenomegaly, progressive central nervous system deterioration, skeletal dysplasia and faltering growth, commonly resulting ...