ESPE Abstracts

Adrenal insufficiency of any cause results in major morbidity and increased lifetime risk for adrenal crisis and potential mortality. A majority of those affected by disorders of either congenital or acquired origin have deficiencies of both glucocorticoid and mineralocorticoid. Preferred replacement treatment for infants, children and adolescents with growth potential is considered to be with hydrocortisone and fludrocortisone.Both medications are advoc...

Background: Activation of the Wnt/β-catenin pathway is frequent in adrenocortical tumors (ACTs). This pathway and DAX1, a negative regulator of SF1 expression, control adrenal stem/progenitor cells, which can be involved in ACTs formation.Objective: To analyse the association between the Wnt/β-catenin pathway and the expression of a stem cell marker (NANOG), STAT3, DAX1 and SF1 in ACTs.Methods: Patients:...

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: Neonatal hyperthyroidism is a rare condition seen in infants born to mothers with Graves disease, with transplacental transfer of TSH receptor antibodies (TRAb) to the baby. Some patients have been shown to swing from hypothyroidism to hyperthyroidism as TSH receptor blocking and stimulating antibodies may coexist.Objective and hypotheses: To describe a rare clinical event of a neonate with severe Graves hyperthyroidism, born to a mother with...