ESPE Abstracts

Background: Previously we showed that pubertal children born small for gestational age (SGA) with a poor adult height (AH) expectation can benefit from treatment with GH 1 mg/m2 per day (~0.033 mg/kg per day) in combination with 2 years of GnRH analogue (GnRHa) and even more so with a double GH dose. GnRHa treatment is thought to have negative effects on body composition and blood pressure. Long-term effects and GH-dose effects on metabolic health in children treate...

Context: Children with 21-hydroxylase deficiency (21OHD) require chronic glucocorticoid administration to substitute glucocorticoids and suppress adrenocorticotropic hormone-induced hyperandrogenemia. There is still no evidence about the best timing of the highest hydrocortisone (HC) dose. Administration of the highest dose in the morning aims to mimic the physiological rhythm of cortisol, while a high dose late in the evening may inhibit the early-morning inc...

Introduction: ‘Maturity-Onset Diabetes of the Young ‘(MODY) 9 is a rare subtype of MODY, resulting from mutations in the ‘Paired Box Gene 4’ (PAX4) on chromosome 7q32.1. PAX4 is mainly expressed in pancreatic islet cells, playing a crucial role in the development, differentiation, proliferation, and survival of insulin-producing β-cells during embryonic stages, as well as in β-cell regeneration in adulthood. Mutations in PAX4 ...

Introduction: Secondary diabetes (drug-induced and related to diseases of pancreas) increases the burden of care of patients, associated with less favorable outcomes. For many medications, most evidence comes from case reports or extrapolations of adult data and this condition is poorly documented as priority is given to the primary disease. Here we aimed to describe the patients diagnosed as secondary diabetes in our clinic and present the long-term follow-up...

Introduction: Pituitary gigantism patients are characterized by male predominance and large tumors that are difficult to control. In most cases, history, physical examination, and adjunctive biochemical, imaging, and/or molecular genetic testing will ultimately reveal the diagnosis.Methods: In this single-center study, demographic, clinical, endocrinological data of patients <19 years old who were followed up with the...

Objectives: The incidence and importance of endocrine comorbidities related to cystic fibrosis-related diabetes (CFRD) and bone diseases (CFRBD) increase with age. Recent studies have indicated that insulin deficiency in type 1 diabetes mellitus(T1D) may be associated with an increased risk of osteoporosis. Our study aims to evaluate the relationship between glucose metabolism and bone health in pediatric cystic fibrosis patients.<strong...

Introduction: LIG4 syndrome, a rare autosomal recessive disorder, arises from mutations in the DNA ligase IV (LIG4) gene on chromosome 13q33–q34. It disrupts DNA damage response and the repair of double-strand DNA breaks crucial for T and B lymphocyte receptor production. This syndrome manifests various clinical features such as microcephaly, atypical facial characteristics, growth delays, skin issues, genital abnormalities (micropenis/cryptorchidism), a...

Aim: To determine Sertoli cell function at diagnosis and after 3 months of chemotherapy.Methods: A prospective cohort study was performed including children with acute lymphoblastic leukaemia, acute myeloid leukaemia, or non-Hodgkin lymphoma. Serum levels of AMH were evaluated at diagnosis and after 3 months during chemotherapy. Results were analysed as standard deviation scores according to pubertal stage and expressed ...

Background: Deficiency of one or more pituitary hormones, often with growth hormone (GH) deficiency, is defined as multiple pituitary hormone deficiencies (MPHD) or congenital hypopituitarism (CH). CH cases are mostly sporadic and have a prevalence of 1/3000-4000 live births. There are many known and yet unknown molecular pathways explaining the complex structure and functions of the pituitary gland. Many different gross and small sequence variants in the gene...

Introduction: Childhood obesity is associated with alterations in hypothalamus-pituitary-adrenal axis activity. We tested the hypothesis that multiple alterations in the metabolism of glucocorticoids are required for the development of hypertension in children who become overweight.Methods: Timed spot urine for targeted gas chromatography-mass spectrometry steroid metabolome analysis was collected from (1) overweight/hyp...