ESPE Abstracts

Background: Microdeletions of 14q22q23 have been associated with eye abnormalities. Other symptoms in deletion carriers are less well recognized.Objective and hypotheses: We focused on growth characteristics and response to GH treatment in two unrelated children with 14q22q23 deletions.Method: Array comparative genomic hybridisation (aCGH).Results: Both patients displayed bilateral anophthalmia. Their brain M...

Background: Octreotide, a long-acting somatostatin analogue, is commonly used in diazoxide unresponsive congenital hyperinsulinism (CHI) patients as a second line medication. However, there are no large studies evaluating long-term follow-up CHI patients on octreotide therapy.Objective and hypotheses: To evaluate the dose range, side effects and long-term follow-up in CHI patients on daily octreotide injections.Method: Twenty-eight...

Background: Congenital hyperinsulinism (CHI) is a rare condition but a significant cause of recurrent hypoglycaemia in infancy and childhood. Prompt recognition and appropriate management is important to avoid long-term neurological sequelae.Objective and hypotheses: To describe the presentation, clinical and genetic outcomes in a series of infants with CHI.Method: Retrospective case series of 35 patients diagnosed with CHI between...

Background: The ever increasing uses of electronic gadgets are becoming a widespread source of Bisphenol-A accumulation. As studies have been reported that low level BPA accumulation may produce neurological effects but still limited studies have re-examined for its adverse effects in terms of acute exposure from electronic devices.Objective and hypotheses: To investigate the effects of BPA on oxidative damage in terms of activity level of antioxidant en...

Background: Epidemiological evidence in Europe indicates the increasing prevalence of premature puberty, especially in girls. This may be attributed to in utero and early-life exposure to environmental estrogen-like compounds present in pesticides, plastics (bisphenol A, phtalates …) and beauty products.Objective and hypotheses: The aim of this study was to assess the prevalence of premature thelarche (PT) and central precocious puberty (C...

Objective: This study aimed to investigate the therapeutic effects of recombinant human GH (rhGH) combined with low-dose stanozolol on the growth and final adult height (FAH) of girls with Turner syndrome (TS).Method: A total of 47 girls with TS were treated with rhGH (47.6–52.4 μg/kg per day) and low-dose stanozolol (20–35 μg/kg per day), starting at a mean age of 12.57±1.96 year. The control group consisted of 26 girls with TS,...

Background: Cushing syndrome is very rare in childhood and adolescence and often occurs with iatrogenic causes. The major cause of endogenous Cushing syndrome is Cushing’s disease, which results due to excessive ACTH secretion from pituitary cells (corticotroph adenoma).Objective and hypothesis: Cushing syndrome cases, which presented with diabetic ketoacidosis (DKA) in adulthood have been rarely reported. However, to our knowledge, there is no repo...

Background: Bisphosphonate treatment for bone fragility has expanded beyond the children with osteogenesis imperfecta (OI) to those with other causes of low bone mass. Pamidronate is effective such as Paget’s disease, hypercalcaemia of malignancy, osteolytic bone metastasis, steroid-induced osteoporosis and idiopathic osteoporosis.Objective and hypotheses: The experience with bisphosphonates treatment other than OI in children is limited although th...

Background: Stunting is a common reason for consultation in pediatrics, several etiologies are responsible, although endocrine causes is rare, it is important to make the diagnosis in order to provide early adequate treatment. however the treatment by rGH is usually well tolerated, side effects should be known, including the possibility of retinal edema revealing intracranial hypertension.Objective and hypotheses: Our purpose is to report a side effect o...

Background: Hyperinsulinaemic hypoglycaemia (HH) is characterized by the dysregulated secretion of insulin from the pancreatic β-cell. It is a major cause of severe and persistent hypoglycaemia in the newborn period. The rapid diagnosis and avoidance of recurrent episodes of hypoglycaemia are vital in preventing brain damage.Objective and hypotheses: To assess if the serum insulin measured at the time of hypoglycaemia in neonates with HH could be co...