ESPE Abstracts

In children with XLH, excess FGF23 causes hypophosphatemia with consequent rickets, skeletal deformities, and impaired growth and mobility. We previously reported that burosumab improved phosphate homeostasis and rickets in children with XLH. Here, we report final data from this Phase 2 Study CL201 (NCT02163577).Fifty-two children with XLH (5-12 years old, Tanner ≤ 2) were randomized 1:1 to receive subcutaneous burosumab every 2 (Q2W) or 4 (Q4W) we...

Background: Hyperinsulinemic hypoglycemia (HH) is a consequence of unregulated insulin secretion by pancreatic β-cells. Congenital HH is caused by mutations in genes involved in regulation of insulin secretion (ABCC8, KCNJ11, GLUD1, CGK, HADH, SLC16A1, HNF4A and UCP2). Severe forms of congenital HH are caused by inactivating mutations in ABCC8 and KCNJ11, which encode the two components of th...

Many factors contribute to the glycemic control in pediatric patients with type 1 diabetes mellitus (T1DM). The purpose of this IRB approved study was to determine if there was a significant correlation between the ability of pediatric patients with TiDM to accurately recognize and count carbohydrates and their hemoglobin A1C (HgbA1C). T1DM patients aged 12-17 years completed the Koontz PedCarbQuiz (PCQ) . Demographic and clinical data was extracted from the electronic health ...

Background: The effect of bisphosphonates in patients with severe osteopenia of prematurity is unknown in terms of either fracture prevention or long-term safety. A 6-month-old male infant born at 24+2 weeks gestation was referred for consideration of bisphosphonate therapy in the management of severe osteopenia of prematurity. The neonatal course included chronic lung disease requiring four courses of corticosteroids. Despite optimal calcium, phosphate and vitamin D supplemen...

Background: Beckwith-Wiedemann syndrome (BWS) characterised by a group of clinical abnormalities (macrosomia, macroglossia, neonatal hypoglycaemia, omphalocoele and umbilical hernia) results from dysregulation of imprinted genes due to mosaic paternal uniparental isodisomy (patUPD) of 11p15.5. Its association with tumours of embryonic origin is well documented and screening guidelines largely aim to detect hepatoblastoma and Wilm’s tumours during the first decade of life....

Background: Antithyroid drugs such as carbimazole form the mainstay of medical management of hyperthyroidism in children. Parents are always warned about agranulocytosis, which is a rare side effect of these drugs. Development of arthralgia after starting antithyroid medication can be a disabling side effect and needs to be distinguished from the more serious antineutrophil cytoplasmic antibody (ANCA) positive vasculitis.Objective and hypotheses: Here we...

Background: Precocious puberty has a complex and polygenic etiology. To describe genetic factors affecting onset and regulation of puberty and pathophysiology of precocious puberty, further studies are needed. Although, it is reported that ACTH receptor MC4R has impact on premature adrenarche, MC2R is expressed in the adrenal cortex and has a major role on the control of hypothalamo-pituitary-adrenal cortex. Melanocortin signaling system is reported to have l...

Female reproductive disorders due to a hypothalamic–pituitary defect include hypothalamic amenorrhea (HA), polycystic ovarian syndrome (PCOS) and hyperprolactinemia. This talk will review the clinical presentation of HA, PCOS and hyperprolactinemia in adolescents and young adults and will provide an overview of recent clinical advances in the field....

Background: Bone growth and mineralization during childhood are now recognized as important for bone health in adulthood, leading to renewed interest in identifying modifiable factors that impact bone mineral density (BMD) in childhood. Emerging data suggest that duration of breastfeeding may affect BMD in later childhood and adult life. However, such data are sparse and inconsistent.Objectives: This study examined the relationship betwe...

Background: severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder. Recombinant human insulin-like growth factor (IGF-1) (rhIGF-1; Increlex® [mecasermin]) replacement therapy is EU and US-approved for treating growth failure due to SPIGFD. The long-term therapeutic objective of rhIGF-1 treatment in SPIGFD is to improve adult height (AH). Objective: to describe the characteristics, safety and effectiveness data ...