ESPE Abstracts

Multiple epiphyseal dysplasia (MED) is a chondrodysplasia characterised by delayed epiphyseal endochondral ossification, resulting in disproportionate short stature and early onset osteoarthritis. MED can be caused by heterozygous mutations in COMP, MATN3, COL9A1, COL9A2 and COL9A3, or bi-allelic mutations in SLC26A2. Human induced pluripotent stem cells (hiPSCs) are reprogrammed somatic cells which can differentiate to form all body tissues and have excellent potential for ti...

Background: Heterozygous mutations in the IGF1 receptor (IGF1R) are often associated with congenital IGF1 resistance, causing variable degrees of intrauterine growth retardation (IUGR) and postnatal short stature. To date, only one homozygous IGF1R mutation has been reported, in a child presenting with severe growth failure, mild intellectual impairment, microcephaly, dysmorphic features, and cardiac malformations.Objective: We now repo...

Introduction: The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) are closely linked to the European Reference Networks on Rare Bone Diseases (ERN BOND) and Rare Endocrine Conditions (Endo-ERN) and with its registry EuRRECa. It is open to all professionals involved in the care of individuals with rare bone and mineral conditions. EuRR-Bone offers an electronic reporting tool (e-REC) for capturing newly encountered cases without collecting ...

Background: Gestational exposure to endocrine disrupting chemicals (EDCs) can impact the control of sexual differentiation by altering the hormonal environment of the foetus. Prenatal exposure to BPA, for instance could lead to disorders of sexual development. At the interface between the mother and the foetus, the placenta plays a key role in foetal programming and responds to environmental stressors in a sex specific manner. Epigenetics has appeared to be a key mechanism for...

Background: Loss-of-function of immunoglobulin superfamily member 1 (IGSF1) results in an X-linked syndrome of central hypothyroidism and macroorchidism, variable prolactin deficiency, GH deficiency, increased fat percentage, and delayed puberty testosterone rise despite normal timing of testicular growth.Methods: We investigated the spatial and temporal expression of IGSF1 at the protein and mRNA levels in fetal, neonatal, and adult Wistar rats, using i...

Introduction: Childhood craniopharyngioma (cCP) has excellent survival, but quality of life may be severely hampered by hypothalamic dysfunction. We aimed to evaluate treatment and hypothalamic outcomes of a Dutch cCP cohort, and evaluate the effect of centralization of care.Methods: A retrospective cohort study was performed, including cCP patients diagnosed between 2004-2021. Treatment characteristics and hypothalamic ...

Background: Septo-optic dysplasia (SOD) is a congenital affection characterized by classic triade: optic nerve hypoplasia, hypothalamic-pituitary endocrine deficits and mdline abnormalities of the brain. It is typically diagnosed in infancy and has a variable presentation.Case presentation: The patient is an 5 year old Algerian girl. At birth, bilateral congenital nystagmus and strabism was noted? Right blindness was suspected by parents at age of 2 year...

Background and Aims: Children with Down's syndrome (DS) are at increased risk of autoimmune conditions including type 1 diabetes (T1D), coeliac and thyroid disease. We previously examined the clinical and immunogenetic characteristics of these conditions in children with DS. An earlier age-of-onset of diabetes was observed compared with children with T1D from the general population despite having decreased frequencies of the established genetic susceptibil...

Background: Bone growth and mineralization during childhood are now recognized as important for bone health in adulthood, leading to renewed interest in identifying modifiable factors that impact bone mineral density (BMD) in childhood. Emerging data suggest that duration of breastfeeding may affect BMD in later childhood and adult life. However, such data are sparse and inconsistent.Objectives: This study examined the relationship betwe...

Objectives: Abdominal fat has been strongly linked to increased cardiometabolic risk and impaired glucose regulation in adults. Owing to the lack of detailed body composition phenotyping in most previous child cohort studies, the temporal links between abdominal fat accumulation and impaired glucose regulation have not been well established. In this study, we evaluated the associations of abdominal fat assessed by MRI at early infancy (≤21 days after birth) and at 4.5 ye...