ESPE Abstracts

A 15-year-old boy, an active sportsperson, presented to an orthopaedic surgeon with a painful left elbow. He had no history of preceding trauma, had full range of motion of his elbow and was systemically well. Imaging demonstrated extra articular calcification at the distal humerus. Serum phosphate was elevated at 2.53mmol/l [1.10-1.80] with calcium 2.48mmol/l [2.10-2.60] and tubular reabsorption of phosphate of 94.6% [82-100%]. He was then referred for endocrine assessment, w...

An 11 year 8-month-old girl presented to her oncologist with recent voice change and increased leg hair growth. She had a past history of pelvic rhabdomyosarcoma in 2012, at age 2, with relapse and local metastasis at age 4. Prior to original tumour treatment, oophoropexy had been performed, aiming to prevent ovarian radiation exposure. At time of the new complaint, she was receiving a trial treatment. Puberty was reported to have commenced at age 10, with 6-months of increase...

Exposure to abdominal radiation for childhood cancer has been associated with an increased risk of gastrointestinal polyps and neoplasia. These patients have a similar risk of developing colorectal cancer (CRC) as those with two or more first-degree relatives with CRC. There has been an inconsistency in clinical practice guidelines, partly due to limited evidence that treatment-associated colorectal cancer has a preceding screen-detectable phase. The previous recommendation fr...

Sex is one of the strongest biological factors influencing neural development, and yet our understanding of the molecular underpinnings of sexual differentiation is only just beginning. Just like the bipotential gonads, which only differentiate upon expression of SRY in XY males, the brain is also bipotential and differentiates due to a combination of genetic, epigenetic, environmental, and hormonal exposures. A period of testosterone production by the testes, which occurs as ...

Background: Bone marrow transplantation (BMTx) involves pre-conditioning regimens that compromise fertility Delayed puberty and hypogonadism are common in children with beta thalassemia major, due to chronic disease and transfusion requirements, due to iron overload in endocrine glands.Objective and hypotheses: Pubertal induction using hCG and FSH prior to gonadotoxic conditioning before BMTx should result in spermatogenesis sufficient to store sperm. We...

Background: Bone involvement occurs commonly in pediatric malignancies, due to infiltration, metastasis or avascular necrosis. Pain is frequently chronic, debilitating, requires narcotic analgesia and can result in immobilization in bed or wheelchair. Intravenous bisphosphonates whilst primarily acting as osteoclast inhibitors also result in rapid and often complete pain relief in primary bone fragility disorders. When administered to children with malignant conditions affecti...

Background: Somatotropinomas are rare in childhood and are frequently associated with genetic mutations. AIP mutations are found in 20–25% cases of sporadic pediatric adenomas and are most commonly associated with GH secreting tumours that are large, aggressive and may be resistant to medical therapy.Objective and hypotheses: To assess response to Pegvisomant, a GH receptor antagonist in two children with sporadic somatotropinomas due to AIP mutatio...

Background: Real-time CGM data includes ‘trend arrows’ which indicate when the blood glucose is rapidly falling or rising thus enabling the pump user to make immediate adjustments in insulin delivery to prevent subsequent low or high blood sugars. However, effective strategies for adjusting insulin boluses based on CGM trend arrows are lacking. Previous studies recommended that boluses be adjusted based on trend arrows using a standard 10–20% increase/decrease o...

Background: Impairment of the chromatin remodeling factors ATRX and DAXX and telomeres abnormality play a role in cancer biology, influencing the clinical outcomes. However, their roles in adrenal tumorigenesis require broader investigation.Aim: To evaluate ATRX and DAXX genotype and expression, telomere length, and the alternative lengthening of telomeres (ALT), as well as their clinical significance, in primary adrenoc...

Background: MODY is characterised by an early onset of diabetes and a positive family history of diabetes with an autosomal dominant mode of inheritance. We report a 15 year girl with a HNF1A mutation who presented with MODY without a positive family history.Objective and hypotheses: HNF1A-MODY is often misdiagnosed as type 1 or type 2 diabetes. Genetic confirmation of MODY in insulin-treated patients helps in making changes in the treatment modality as ...