ESPE Abstracts

Background: Diabetes is a recognised long term sequelae in childhood cancer survivors following bone marrow transplantation and total body irradiation (BMT/TBI), due to a combination of insulin deficiency and resistance.Aim: To characterise presentation, treatment and clinical course of diabetes in childhood leukaemia survivors post BMT/TBI.Method: A single centre retrospective case note review of diabetes post BMT/TBI identified f...

Background: The liver is one of the most important organs in glucose metabolism and closely related to diabetes pathophysiology. Non-alcoholic fatty liver disease (NAFLD) is well known in type 2 diabetes mellitus (DM), but also adult patients with type 1 DM are at increased risk for NAFLD.Objective and hypotheses: Here, we studied the prevalence of liver disease in a representative number of children and adolescents with type 1 DM in Germany.<p class...

Background: TransCon GH is designed as a once-weekly sustained-release prodrug of recombinant human GH (hGH, somatropin). Based on the inert TransCon prodrug technology unmodified native hGH is released with a Cmax and AUC comparable to daily therapy. TransCon GH leverages the known pharmacology of daily hGH and is being developed for the treatment of GH deficiency (GHD) in children and adults.Objective and hypotheses: Develop a safe and efficacious sust...

Background: Children with GHD, in addition to short stature, may experience physiological symptoms as well as social and emotional problems. Assessing these impacts is critical for understanding the extent of GHD burden and assessing treatment benefit. Since many children initiating treatment are too young to self-report information, we must rely on adult reporters. However, according to FDA guidelines and established measure development principles, adult reporter information ...

Objective and hypotheses: The objective was to use whole-genome RNA profiling of testicular biopsies by DNA strand-specific RNA-sequencing to explore the causative role of isolated congenital cryptorchidism in azoospermia and/or infertility.Method: Fifteen cryptorchid patients, aged 7 months to 5 years, were enrolled in this study and underwent orchidopexy. During surgery, testicular tissue biopsies were collected and split in half for histological exami...

Background: Pfizer International Growth Database (KIGS) contains data of Turner syndrome (TS; N=7378) or Noonan syndrome (NS; N=613, female=224; male=389) patients who were treated with rhGH.Objective: To compare the effect of rhGH on near adult height (NAH) in TS and NS patients. We hypothesized a similar outcome in both diagnoses. Determinants of the treatment outcome in NS patients were also assessed.Patients a...

Introduction: Hypophosphatasia (HPP) is the rare, inherited, metabolic disease with broad-ranging severity caused by inactivating mutation(s) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. In the childhood form of HPP, there are mineralization defects of the bones and teeth, often with impaired physical function, muscle weakness, and decreased growth. We previously reported sustained radiographic improvement in rickets compared to historical controls in 5–1...

Introduction: Hypophosphatasia (HPP) is caused by inactivating mutation(s) within the gene for tissue nonspecific alkaline phosphatase (TNSALP). Patients with the perinatal and infantile forms of HPP suffer rickets, poor growth, and delayed gross motor function. In 2012, we detailed significant improvement in skeletal mineralization and respiratory function in such patients treated for 1 year with asfotase alfa, a bone-targeted recombinant human TNSALP,1 and recentl...

Background: Upon excessive expansion, adipose tissue is infiltrated by macrophages and shows increased production of inflammatory cytokines. This chronic low grade inflammation of adipose tissue is involved in the pathogenesis of insulin resistance. A supplementation with resveratrol can reverse the metabolic disturbances of human obesity, in part by mimicking the effects of caloric restriction.Objective and Hypotheses: We hypothesized that the beneficia...

Background: Adult survivors of childhood leukaemia treated Bone marrow transplantation with total body irradiation (BMT/TBI) have an increased risk of diabetes mellitus (DM) disproportionate to their level of adiposity or other recognised risk factors. Post prandial hyperglycaemia due to reduced β-cell reserve after irradiation will be missed by fasting glucose (FG) levels. However, the UK National Institute of Clinical Excellence (NICE) screening guidelines recommend the...