ESPE Abstracts

Background: Adults with CF show a higher rate of osteoporosis compared to healthy adults. Achieving proper bone mass is a process starting in childhood. We aimed to evaluate the prevalence of decreased bone mineral density (BMD), changes during puberty and risk factors for low BMD in children and adolescences with CF in a large Dutch cohort.Patients and methods: A retrospective observational cohort study was performed in...

Introduction: Mucopolysaccharidoses (MPS) are lysosomal storage diseases. The frequency of endocrinological problems such as osteoporosis and hypothyroidism among children with MPS is not known and there are limited studies. In this study, the clinical findings, bone health and other endocrine functions of patients with MPS diagnosis and access to current treatments were retrospectively evaluated.Materials and Methods:Th...

Background: Although differences in pubertal timing alters frequency of indicators of attained stature at the extremes, its magnitude is unknown across ethnic groups of US youths.Methods: We performed analyses of anthropometry and Tanner staging data of 3206 cross-sectional national sample of youths ages 8–18y (53% male (n=1606), 72% Non-Hispanic White (NHW), 9% Mexican American (MA) and 19% Non-Hispanic Black (NHB). Specialized Tanner-stag...

Background: GH treatments aim to normalize growth, correct health problems associated with GH deficiency, and help patients achieve an adult height in the normal range for the general population and for familial genetic potential.Objective and hypotheses: To evaluate the efficiency of recombinant GH (rhGH) for improving adult height in children with GH deficiency (GHD).Method:: This is an observational follow up study which enrolle...

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...

Introduction: Congenital deficiency of the leptin receptor is an extremely rare cause of early-onset monogenic obesity with rapid weight gain and compulsive overeating. LEPR mutations is responsible for extreme form of obesity associated with other endocrine abnormalities and respiratory tract infection. Till date, approximately 50 families have been reported to have mutations in the leptin receptor gene.Case: 9-year-old...

Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder, occurring in 1/13,700 births. BWS is usually sporadic, but 15% of cases are familial. Variable phenotype may include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, lateralized overgrowth and predisposition to embryonal tumors. We describe three male cases of BWS followed at our clinic.Case 1: Born of a gestation complicated by gestational diabetes. Del...

Introduction: Ox in a dose of 0.03-0.05 mg/kg per day in addition to GH treatment significantly increases adult height in TS more than GH alone. To date, the long term effects of Ox in childhood on bone mineral density (BMD) in adulthood are unknown.Methods: This is a follow-up study of a previous randomized controlled trial, performed in the Netherlands. In the original trial, 133 girls were treated with GH. Placebo (Pl...

Background: Autoimmune primary adrenal insufficiency (PAI) is a rare and life-threatening disease. Standard replacement therapy consists of multiple daily doses of hydrocortisone combined with fludrocortisone. A recent Endocrine Society guideline argued against hormonal monitoring of glucocorticoid replacement. However, about 50% of adolescents and young adults (AYAs) with chronic diseases are non-adherent to their prescribed treatment regimens. Pervasive nonadherence places p...

Objectives: Bone health is affected in Type-1-Diabetis (T1D) causing higher risk of hip fractures, prolonged fracture healing and altered bone mineral density (BMD). In T1D adults BMD is found to be decreased. In this study we have measured the BMD in children and adolescents from the Copenhagen Pediatric T1D Cohort.Methods: 276 children and adolescents (131 girls) were included from the diabetes outpatient clinic at Herlev University Hospital. All patie...