ESPE Abstracts

Background: Mutations in the nicotinamide nucleotide transhydrogenase (NNT) gene are a rare cause of primary adrenal insufficiency (PAI), as well as cardiomyopathies and functional impairment of the gonads.Objective: Despite the description of different NNT mutations in homozygosis and compound heterozygosis in PAI patients, it remains to be clarified to which extent the function and expression of the m...

Introduction: Debate still exists about the safety of long-term use of prednisone (P) versus hydrocortisone (HC) for treating children with congenital adrenal hyperplasia -21OH D (CAH).Aim: To investigate the linear growth and weigh gain as well as metabolic component in children with CAH who were treated with either HC or P since early infancy for 5 years or more.Methods: Data of ...

Background: The majority of drug developments in type 1 diabetes (T1D) are aimed at preventing decline of beta cell function (BCF), as this has been associated with better glycaemic control and fewer long-term complications. Traditionally, BCF is evaluated by the C-peptide response to the labour-intensive mixed-meal-tolerance-test (MMTT), but there’s a need for a more practical alternative. We developed a new method to measure C-peptide in ‘dried blood spots’ (D...

Introduction: Noonan Syndrome (NS) is an autosomal dominant condition that affects 1 in 1000 to 2500 live births and is associated with short stature. Studies have shown that height velocity (HV) improved significantly with the use of growth hormone (GH) in the first year of treatment and sustained for the second year. We aimed to look at the effects of GH therapy in our cohort of patients with NS.Method: In this retrosp...

Objectives: Thiamine responsive megaloblastic anemia syndrome (TRMA) is characterized by the clinical triad of megaloblastic anemia, non-immune diabetes mellitus and sensorineural deafness. It is a very rare autosomal recessive disease with an increased frequency in consanguineous marriages and isolated communities. The syndrome is due to intracellular thiamine deficiency which is the result of a defective high affinity low performance thiamine transporter pro...

Background: Constitutional Delay of Growth and Puberty (CDGP) is a transient state of hypogonadotropic hypogonadism associated with prolongation of childhood phase of growth, delayed bone age and pubertal delay. CDGP can cause significant psychological stress and anxiety in adolescent boys. Although testosterone usage in this group has not been shown to affect the final adult height, the effect on the first year height velocity is not widely reported.Obj...

Background: BoneXpert software calculates bone health index (BHI) from cortical thickness and mineralisation of three metacarpals, and bone age (BA) using 13 bones: Radius, ulna and bones in ray 1, 3, 5. Strong correlations between BoneXpert BHI and dual-energy x-ray absorptiometry (DXA) and peripheral quantitative computed CT (pQCT) measurements are reported 1. Low bone mineral density (BMD), measured by DXA, and improvement with GH is described in childhood GH deficiency (GH...

Background: Constitutional delay in growth and puberty (CDGP), the most common cause of short stature in children, is a transient state of delayed growth, skeletal maturation and attenuated pubertal growth spurt. It is not always easy to differentiate from GH deficiency (GHD) even with robust clinical and auxological assessment, measurement of IGF1 and bone age evaluation Bone health index (BHI) is a quantitative measure of bone health calculated from a hand and wrist X-ray us...

Background: Turners Syndrome (TS) is associated with osteoporosis in later life. ‘BoneXpert’ has enabled the automated assessment of bone age (BA) and Bone Health Index (BHI). Strong correlations between BoneXpert BHI and dual-energy x-ray absorptiometry and peripheral quantitative computed CT measurements are reported. BoneXpert produces a standard deviation score for BHI (BHI-SD) relative to a healthy cohort of children according to BA.Object...

Background: Familial Hypercholesterolaemia (FH) is a common autosomal dominant disorder of low-density lipoprotein (LDL) metabolism characterised by elevated levels of plasma LDL-cholesterol (LDL-C), accelerated atherosclerosis and premature cardiovascular disease (CVD). In the Gulf Co-operation Council states, CVD is often diagnosed at a younger age and is the leading cause of mortality. As such, early genetic diagnosis and treatment of FH is important for ri...