ESPE Abstracts

Background: Recent work revealed two pathways in androgen biosynthesis, namely the classic and an alternative, the backdoor pathway. In this alternative pathway dihydrotestosterone is produced from 17-hydroxyprogesterone without the intermediacy of testosterone using mostly enzymes that are specific to the backdoor path. In the human ovary, regulation of androgen production plays a crucial role in normal physiology and in pathologies such as the polycystic ovary syndrome (PCOS...

Background: Normal thyroid function is necessary for the optimal growth promoting effects of GH. Changes in the hypothalamic-pituitary-thyroid (HPT) axis following GH have been reported in subjects initially thought to be euthyroid. A specific group of patients, children with Prader-Willi syndrome (PWS), are thought to have a ‘vulnerable’ HPT axis.Objective and hypotheses: To evaluate the impact of paediatric GH therapy on thyroid hormone statu...

Background: Psychosocial factors may be fundamental explaining poor glycaemic control in children with type 1 diabetes (T1DM). Anxiety, depression are well described in children with T1DM. According to Kauffman (2012), diabetes management can only be successful if psychosocial needs are assessed and addressed.Objective and hypotheses: To examine the association between glycaemic control and scores on two screening tools measuring psychosocial risk and em...

Background: TV-1106 (Teva Pharmaceuticals Ltd) is a genetically fused recombinant GH (rhGH) and human serum albumin in development as a once weekly treatment of GH deficiency (GHD) in children and adults. TV-1106 has an extended duration of action compared to daily rhGH treatment, reducing the frequency of injections.Objective and hypotheses: The pharmacokinetics and pharmacodynamics of TV-1106 were evaluated in phase 2 study using non-compartmental anal...

Background: Screening guidelines for vascular complications in children with type 1 diabetes (T1DM) are based on results from Diabetes Control and Complications Trial (DCCT) and its follow-up, the Epidemiology of Diabetes Interventions and Complications (EDIC) trial. These studies established conclusively that early and intensive diabetes care improves long-term outcomes.Objective and hypotheses: To establish screening practices and prevalence of vascula...

Background: Children with type 1 diabetes (T1D) and their parents need personalized i) information about the disease and glucose homeostasis and ii) knowledge and guidelines about diet and insulin therapy.Objectives: To set a complete educational program that allows children with T1D to improve disease management and daily life.Methods: Education modules were written and trained with children and parents at outpatient visits. Each ...

Background: Normal TF is necessary for optimal growth. Changes in the hypothalamic-pituitary-thyroid (HPT) axis following GH therapy are reported. GH therapy has been suggested to centrally inhibit TSH production as well as peripherally increasing T4 to T3 conversion which increases negative feedback on TSH production. Hypothalamic dysfunction is a feature of PWS, therefore these patients may be at risk of developing central hypothyroidism associated with GH therapy.<p cla...

Background: TV-1106 (Teva Pharmaceuticals) is a genetically fused human GH and human serum albumin, in development for treatment of GH deficiency (GHD). TV-1106 has an extended duration of action compared to daily GH treatment and thus it is believed that treatment with TV-1106 can reduce the frequency of injections and improve compliance and quality of life for those requiring growth hormone replacement therapy. The efficacy and safety data from adult studies with TV-1106 sup...

Background: Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by loss-of-function mutations in the gene encoding tissue nonspecific alkaline phosphatase (TNSALP), resulting in hypomineralisation of bone. HPP presenting <6 months of age is often lethal due to respiratory insufficiency, with survival of 42% at 1 year. Asfotase alfa, a human recombinant TNSALP replacement, promotes bone mineralisation, with survival of 95% at 1 year in infants with HPP....

Background: Cytochrome P450 oxidoreductase (POR) deficiency (PORD) is a form of congenital adrenal hyperplasia (CAH) and results in steroid-production loss from cytochrome P450 proteins. Mutations in POR cause mild to severe forms of CAH with/without bone malformation symptoms resembling Antley-Bixler syndrome. We report a novel POR Arg550Trp mutation identified in a 46,XX patient with signs of aromatase (ARO) deficiency. Child (first pregnancy) and mother pr...