ESPE Abstracts

Background: Biomarkers other than microalbuminuria are needed to detect early kidney injury in adolescents with type 1 diabetes.Objective and hypotheses: We aimed to determine diabetic nephropathy in normoalbuminuric and normotensive diabetic adolescents with biomarkers related different segments of the glomeruli (podocalyxin, nephrin and liver type fatty acid binding protein (L-FABP)), and to assess the relationship among these biomarkers and glomerular...

Background: Published case reports and anecdotal experience suggest a positive effect of dexamphetamine on impetus and weight in patients with hypothalamic obesity.Objective and hypotheses: We aimed to observe these effects in our patients who are offered off-label treatment with dexamphetamine.Method: Between 2010 and 2013, patients starting dexamphetamine treatment were enrolled in a prospective observation study. BMI–SDS wa...

Background: Pancreas transcription factor-1 alpha (PTF1A), encoded by the PTF1A gene, is a beta helix loop(bHLH) protein which involved in the development of the pancreas and cerebellar neurogenesis. Although mutations of PTF1A cause permanent neonatal diabetes(PNDM), pancreas agenesis and cerebellar agenesis, PTF1A enhancer mutations reported causing PNDM and isolated pancreas agenesis. In the present study, we evaluate the phenotyp...

Introduction: GLIS3 is a member of the GLI-similar zinc finger protein family encoding for a nuclear protein that maps to chromosome 9p24.3-p23. Mutations in GLIS3 have been reported in association with Neonatal diabetes mellitus and hypothyroidism syndrome. We aimed to present a case of congenital diabetes mellitus congenital hypothyroidism associated with a newly identified mutation in the GLIS-3 gene.Case Report: A se...

Introduction: Congenital disorder of glycosylation type-1a is a multi-system disease involving neurological, gastrointestinal, ophthalmologic, cardiac or endocrine systems. In addition to hypothyroidism and hypergonadotropic hypogonadism, rare occurrences of hyperinsulinemic hypoglycemia in CDG patients have been reported. In the present report, we describe a patient diagnosed with CDG type-1a accompanied by hyperinsulinemic hypoglycemia, and whose responsive to diazoxide....

Growth response to daily GH treatment can be predicted using pre-treatment gene expression profiles.1 Once-weekly GH treatment potentially reduces the burden of daily injections2 and thus may be a major advancement in care for patients with GHD, vs standard, daily GH treatment. Here we investigate the prediction of first-year growth response based on pre-treatment blood transcriptome in children with GHD undergoing treatment with daily or once-weekly GH. ...

Background: For early identification of patients requiring adherence support, objective, real-time adherence data are needed. The easypod™ electromechanical injection device, in combination with the easypod™ connect ecosystem, electronically records and transmits, in real time, accurate records of the date, time and dose injected for patients receiving recombinant human growth hormone (r-hGH) to treat growth disorders. Healthcare professionals can us...

Introduction: Automated insulin delivery systems provide significant improvement in the time in range(TIR) centered diabetes care. This study analyzes the real-word performance of Minimed 780G™system-Advanced Hybrid Closed Loop(AHCL) in children from a single center.Methods: Of the 93 children started to use AHCL between January 2021 and April 2022, 64 whose data could be accessed were included. 3,6,9 and 12 month-...

Background: There is no agreement on the optimal treatment of children with vitamin D deficiency or insufficiency without obvious signs of rickets.Objective and hypotheses: To compare the efficacy and side effects of two different stoss therapy regimens (10 000 IU/kg and 300 000 IU vitamin D3) in children with vitamin D deficiency or insufficiency without rickets.Method: A total of ...

Background: DEND syndrome is characterized by developmental delay, epilepsy, and neonatal diabetes mellitus (NDM) due to mutations in KCNJ11 and ABCC8 genes. Intermediate DEND (iDEND) syndrome is a rare mild form with mild motor, speech or cognitive delay and an absence of epilepsy. Improvement in glycemic control and neurologic symptoms has been reported in three cases with iDEND syndrome.Objective and hypotheses: To present the result...