ESPE Abstracts

Background: Secondary forms of diabetes mellitus (DM) are underdiagnosed in children and adolescents with cancer because despite the whole body of evidence that asparaginase, steroids and total body irradiation increase the risk of developing DM, risk factors are missing and – asides from treatments – understudied (e.g., pre-existing obesity, sex, age, ethnicity, family history of DM). The objectives of our study were to assess the incidence and asso...

Background: Heterozygous GNAS inactivating mutations cause pseudohypoparathyroidism type Ia (PHP-Ia) when maternally inherited and pseudopseudohypoparathyroidism (PPHP)/progressive osseous heteroplasia when paternally inherited. Mutations on the paternal, but not the maternal, GNAS allele are associated with intrauterine growth retardation (IUGR). Moreover, birth weights were lower with paternal GNAS mutations affecting exons 2–13 (including XL and Gαs) than with exo...

Objective: Remission rates in young people with Graves’ hyperthyroidism are 25% or less after a 2-yr course of thionamide antithyroid drug (ATD). Immunomodulatory agents could potentially improve outcome by facilitating immune tolerance. We wanted to explore whether rituximab, a B lymphocyte depleting agent, would increase remission rates when administered with a short course of ATD.Design: This was an investigator-...

Adult CAH patients have poor health outcomes and these in part relate to the method of glucocorticoid replacement in children and adults. Life-saving glucocorticoid replacement was introduced in the 1950s and the majority of children are treated with immediate release hydrocortisone whereas adults are treated with a mixture of hydrocortisone, prednisolone, prednisone and dexamethasone from one to four times daily and in circadian and reverse circadian regimens. Despite these p...

Background: Glucocorticoid therapy in 21-hydroxylase deficiency (congenital adrenal hyperplasia, CAH) both replaces the cortisol deficiency and reduces adrenal androgen production. Androgen control, however, often requires supraphysiologic and/or nocturnal glucocorticoid exposure. Chronic treatment in this manner contributes to long-term complications observed in CAH cohorts, including high rates of obesity, low bone density, glucose intolerance, skin fragility, and excess mor...

Background: We present four patients who presented with seizures and their journey to diagnosis. All were managed for some time as epilepsy before the diagnosis of hypocalcaemia was made.Objective and hypotheses: To confirm not all seizures are epileptiform.Method: Case reports.Results: Case 1. Seen at age 4 with seizures. EEG normal. Mild language delay. Seizures continued intermittently on anti-epilepsy med...

Background: Bone mass is low in obese children when measured by conventional techniques. However, these imaging modalities cannot quantify alterations in bone microstructure and strength. High resolution peripheral quantitative computed tomography (HRpQCT – isotropic voxel size 82 mm) provides the resolution required to determine 3-dimensional in-vivo bone microstructure; microfinite element (microFE) analysis of HRpQCT images provides insight into skeletal biome...

Introduction: Osteonecrosis can be a debilitating consequence of treatment for acute lymphoblastic leukaemia (ALL), most commonly affecting patients aged between 10 and 20 years at diagnosis of malignancy. Patients may have asymptomatic lesions that spontaneously regress, and little is known about the natural history of lesions. There is also limited understanding of the relationship between osteonecrosis and other markers of bone health.Aims: The aims o...

Background: Precocious puberty is defined as breast development before 8 years in girls and gonad development before 9 years in boys. Central precocious puberty (CPP) results from early activation of the hypothalamic-gonadal axis. One third of idiopathic CPP is reported to be familial. Genetic mutations were initially described in kiss-peptin-1 (KISS1) and its receptor (KISS1R). More recently, Abreu et al identified heterogeneous mutations in the makorin RING finger 3 (MKRN3) ...

Background: There are published recommendations for neonates to avoid exposure to iodine. Iodine is trapped by the thyroid gland from the blood stream and used for the synthesis of thyroid hormones. Any excess is excreted almost entirely in the urine. Acute kidney injury, especially anuria places infants at risk of toxicity when exposed to iodine and paradoxical hypothyroidism can occur (Wolff–Chaikoff effect). Hypothyroidism of sufficient severity to seriously put the br...