ESPE Abstracts

Background: Long-acting somatostatin analogues have been reported to be an effective treatment option to prevent severe hypoglycaemia in children with severe diffuse congenital hyperinsulinism (CHI). Possible side effects include gallstones, growth retardation and necrotizing enterocolitis (NEC), the latter occurring in particular cases of newborns treated with octreotide. So far only short-acting octreotide is being used in early infancy, requiring multiple injections daily o...

Background: Osteogenesis imperfecta is a rare collagen related hereditary disease leading to recurrent fractures, reduced mobility, muscular weakness and short stature.Objective and hypotheses: It was always discussed if the reduced height is a consequence of the impaired collagen production, a reaction of the body to the brittleness of bones or if the patient might suffer from an additional deficiency of growth hormone (GH).Method...

Background: Brain abnormalities like cerebral midline malformations (CMM) can be detected by fetal sonography. CMM with neonatal hypopituitarism may cause severe hypoglycemia.Case presentation: We report about three cases of term eutrophic newborns, which all presented with severe neonatal hypoglycemia despite prenatally diagnosed CMM. All three patients were born vaginally and were immediately breastfed after normal postnatal adaptation. In the first ca...

X-linked hypophosphatemia (XLH, MIM 307800) is a rare hereditary disorder of bone metabolism characterized by growth impairment, leading to bone deformities and short stature and beside others to muscle function deficits. XLH is caused by defect of endopeptidase PHEX leading to high levels of FGF-23 and thereby renal phosphate wasting. While conventional treatment includes substitution of phosphate and 1-25 OH-Vitamin D, now a treatment with a FGF-23 antibody (burosumab) is av...

Objective: Osteogenesis imperfecta is an inherited disorder characterised by bone fragility. Antiresorptive treatment with bisphosphonates is a well-established first line medical treatment in OI types III/IV. Nevertheless, there is no consensus on treatment modalities, like which bisphosphonate to use in which dose and when to initiate treatment. The objective of this work was to evaluate the therapeutic effect of a one-year treatment period with bisphosphona...

Background: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder due to mutations related to collagen type 1. OI presents itself with low bone mass, resulting in high bone fragility. Bone mass is relevant for determination of the severity of OI. Although bisphosphonate treatment is able to increase areal bone mineral density (aBMD) measured by DXA, there is no correlation to fracture rates.Objective and hypotheses: The aim of this stud...

Background: The steroidogenic Factor 1 (SF1, NR5A1) is one of the key factors involved in gonadal and adrenal development and steroidogenesis. Until now, over 50 mutations were described in different phenotypes of XY disorders of sex development (DSD) such as complete gonadal dysgenesis, severe and mild partial gonadal dysgenesis, hypospadias, infertility and bilateral anorchia. So far, no genotype-phenotype correlation could be demonstrated.Objective an...

Background: Congenital thyroid dysgenesis usually occurs sporadically and may even be discordant in monozygotic twins. However, when caused by inactivating mutations in the TSH receptor (TSHR) it can be inherited recessively, typically resulting in thyroid gland hypoplasia. We present a new familial case of thyroid dysgenesis with two siblings of consanguineous parents. The daughter was identified in neonatal screening with severely elevated TSH and thyroid agenesis on ultraso...

Introduction: Osteogenesis imperfecta is a rare disease leading to immobility by recurrent fractures, hyperlaxicity of ligaments, short stature and muscular weakness. Beside drug treatment and surgical procedures physiotherapy is one of the most important treatment approaches to increase mobility. The objective of our analysis was to evaluate the effect of a new standardized 12 months physiotherapy concept including whole body vibration over 6 months on motor function and bone...

Introduction: Osteogenesis imperfecta (OI) is a hereditary disease characterized by a wide range of skeletal signs. Mutations in COL1A1/A2 have been known to cause dominant OI. Recently, a heterozygous mutation in the 5′-UTR of IFITM5 (c.−14C>T) was identified as a new cause of dominant OI. We present three patients from three different families with two mutations in IFITM5 with extremely different phenotypes.Description...