Endocrine Abstracts

Studies have demonstrated that ATP-sensitive potassium channel (KATP) subunits SUR2A (sulfonylurea receptor) and KIR6.2 are involved in glucose uptake into skeletal muscle. It is known that the glucose transporter 4 (GLUT4) expression is highest in oxidative type I fibers, pointing out the important role of oxidative muscles as glucose uptakes. Considering these aspects the aim of this study was to investigate whether KATP channel can influence glucose uptake in oxidative musc...

Background: Bone densitometry by DXA is now considered routine part of clinical management of children at risk of osteoporosis. Data on activity of a paediatric DXA service would be helpful for service planning but are currently lacking.Aim: A survey of referrals to the service and size-adjusted total body (TB) and lumbar spine (LS) bone mineral content for bone-area standard deviation scores (BMC for BA SDS) were obtained from the local database.<p ...

Background: In 2007, the Turner syndrome (TS) consensus study group developed an international guideline for clinical care of girls and women with TS. Given emerging concerns of long term cardiovascular complications, the consensus recommends that cardiac MRI should be performed when girls are old enough to tolerate the procedure or at the time of transition and to be repeated at least every 5–10 years.Method: We conducted a survey ...

To improve the clinical management of children with disorders of sex development (DSD), there is a need for multi-centre collaborative research as well as clinical interaction. The European DSD Register that became operational in 2008 is a cornerstone of the EuroDSD programme and allows clinicians and researchers to interact in a secure, internet-based, virtual research environment (VRE).Currently, 23 centres in 16 countries from four continents have exp...

The NR0B1 (Nuclear Receptor Subfamily 0, group b, member 1) gene, originally called DAX1, encodes an atypical member of the nuclear receptor family. It is proposed to co-regulate other nuclear receptors, repress transcription of downstream gene targets such as steroidogenic factor 1 and play a role in testis development and spermatogenesis. The gene has two exons of 1,168 and 345bp, separated by a 3,385bp intron. It is expressed in the hypothalamic-pitutary-adrenal/gonadal axi...

Aim: To review trends in bisphosphonate use in children with secondary osteoporosis attending a Tertiary Paediatric Endocrine Unit (2004–July 2015).Methods: Data were gathered from a combination of a clinical and pharmacy database. Results reported as median (range).Results: A total of 42 children (19M) commenced on bisphosphonates treatment over the 11-year period, median age 11.8 years (3.3–18.4). 19 were on pamidronate...

Background: Recombinant human GH (rhGH) may improve bone mass in paediatric inflammatory bowel disease (IBD).Objective: To investigate rhGH on bone and body composition in paediatric IBD.Method: Bone biomarkers were evaluated in 12 children, 11CD (10M), median age 14.4 year (8.9, 16.2) who received rhGH (0.067 mg/kg per day) as part of a 6 months RCT. Eight received rhGH for 24 months and had DXA evaluation. Results were reported a...

Background: There are limited data in paediatric population on the association between vitamin D deficiency/treatment and glucose/insulin metabolism.Objective and hypotheses: This study aimed to investigate the effect of vitamin D therapy on glucose homeostasis, insulin resistance and bone turnover, in children with vitamin D deficiency.Method: 22 children aged 3 months to 10 years (nine males) who were diagnosed with vitamin D def...

Background: Childhood-onset GH deficiency (CO-GHD) is perceived to be a cause of low bone density and osteoporosis in adulthood. Data on bone mass and body composition of GH-treated adolescents with CO-GHD at final height are inconsistent.Aims: To compare size/height corrected parameters of bone mass and body composition in adolescents with CO-GHD at final height.Method: Review of CO-GHD treated patients at final height between 200...

Introduction: The incidence of adrenal insufficiency in cases of unexplained death in young children is unclear. It is also unclear whether there is a relationship between adrenal size and plasma cortisol concentration.Methods: All post-mortem (PM) reports of sudden deaths in children in the West of Scotland between 2010 and 2012 were retrospectively analysed. Combined adrenal weight (g) was recorded and expressed as the percentage of total body weight (...