hrp0086p2-p653 | Growth P2 | ESPE2016

Improving the ‘Gold Standard’: The Insulin Tolerance Test Revisited

Daskas Nikolaos , Barton John , Burren Christine , Crowne Elizabeth

Background: The optimal method to assess GH status remains controversial. GH provocation tests are used and the Insulin Tolerance Test (ITT) is regarded as the ‘gold standard’ to diagnose GH deficiency (GHD). The original selection of 0, 20, 30, 60, 90 and 120 min time points is still used in many protocols worldwide, but variations have evolved.Objective and hypotheses: Comparing standard ITT (StdITT) to a revised (RevITT) protocol.<p clas...

hrp0092p2-253 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Complexities of Diagnosis in 17-Beta-Hydroxysteroid Dehydrogenase Deficiency and Implementation of Next Generation Sequencing in Guiding Management Decisions – Case Series of Six Patients

Taylor-Miller Tashunka , Barton John S , Burren Christine P , Woodward Mark , Alderson Julie , Crowne Elizabeth C

17-beta-hydroxysteroid dehydrogenase (17-beta-HSD3) deficiency is an autosomal recessive 46XY disorder of sex development (DSD), which results in impaired gonadal androstenedione conversion to testosterone. The phenotype ranges from female to ambiguous genitalia, with wolffian-duct structures and testes. HCG stimulation tests assess testosterone biosynthesis, though biochemical results in confirmed 17-beta-HSD3 deficiency may overlap with gonadal dysgenesis making diagnosis ch...

hrp0084p2-240 | Bone | ESPE2015

Size-Corrected Bone Mineral Density is not Affected by Haematopoietic Stem Cell Transplantation and Total Body Irradiation in Leukaemia Survivors

Wei Christina , Elson Ruth , Cox Rachel , Bradley Karin , Barton John , Stevens Michael , Crowne Elizabeth

Background: Childhood haematopoietic stem cell transplantation and total body irradiation (HSCT/TBI) survivors have multiple risk factors for reduced bone mineral density (BMD) and poor growth. Reduced z-scores from dual energy x-Ray absorptiometry (DEXA) have been reported, but are unreliable in patients with short stature/abnormal body composition.Objective: To investigate the influence of HSCT/TBI on size-corrected BMD in childhood leukaemia ...