ESPE Abstracts

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by loss-of-function mutations in the gene encoding the forkhead box P3 (FOXP3) transcription factor. This factor plays a key role in the differentiation and function of CD4+ CD25+ regulatory T cells, essential for the establishment and maintenance of natural tolerance.Objective: To describe clinic...

Background: T1DM incidence in children varies across regions and countries, showing a continue rise Worldwide.Objective and hypotheses: To determine the incidence of T1D in Chilean children under 20 years between 2006 and 2012.Method: We reviewed mandatory notifications of T1D (GES Program) in Chile’s public health system in population younger than 20 years between 2006 and 2014. Data were obtained from the Department of Infor...

Background: Polycystic ovarian syndrome (PCOS) is the most common cause of oligomenorrhea and hyperandrogenism. Diagnostic criteria for PCOS includes ovarian dysfunction and clinical or biochemical evidence of hyperandrogenism. The differential diagnosis includes congenital adrenal hyperplasia as well as steroid producing tumors.Case presentation: 18-years-old female presented to establish care with a history of PCOS diagnosed at the age of 11 years. She...

Background: Hyperinsulinemic hypoglycemia (HH) is the most common cause of severe, persistent neonatal hypoglycemia. Treatment of diffuse forms that is unresponsive to diazoxide and octreotide is near total pancreatectomy.Objective: To describe the clinical characterization of a newborn with congenital HH due to a diffuse pancreas lesion and unresponsive to diaxoside.Case report: Preterm term male of 33 weeks born to non-consanguin...

Background and objective: Children with Thickened pituitary stalk (TPS) and/or Idiopathic central diabetes insipidus (ICDI) present to different (endocrine, oncology, and ophthalmology) specialists. Their rarity, absence of agreed radiological criteria or consensus guidance, make their management problematic. Biopsy is too dangerous and cases may remain undiagnosed or evolve over decades. We aimed: i) to longitudinally characterize a large childhood cohort presenting with TPS ...

Background: Recent studies in multiple models of type 1 diabetes mellitus (T1DM) have demonstrated the role of mitochondrial abnormalities in the pathogenesis of this disease and its complications. Humanin is a potent cyto-protective and ‘metaboloprotective’ molecule in vitro and in vivo, including the protection of β cells from apoptosis, improvements in insulin secretion and action, and both prevention and treatment of diabetes in the NOD mou...

Background: Childhood brain tumour survivors are at risk of developing endocrine secondary effects throughout lifetime. Transition between childhood and adult care is a critical moment during which patients may stop medical visits and treatments.Objective: To describe endocrine care transition in our cohort of patients with primary brain tumors followed from 2010-2015, who are ≥=18 years old by December 31st</...

Pseudohypoparathyroidism (PHP) and related disorders lead to a wide spectrum of abnormal physical characteristics, neurocognitive and endocrine abnormalities. PHP (including all subtypes), pseudoPHP, acrodysostosis and progressive osseous heteroplasia refer to heterogeneous disorders characterized by physical findings, differently associated in each subtype, including short bones, short stature, stocky build, subcutaneous ectopic ossifications, as well as laboratory abnormalit...

Background: The need to understand the relationship between bone, muscle, and fat within the bone-muscle unit has recently gained great prominence. Although high resolution (HR) MRI is a non-invasive imaging modality that can provide this information, there is limited expertise in children and young people.Objectives: To establish MRI-based normative data for bone, bone marrow adiposity and muscle adiposity in children a...

Background: SHOX encodes a transcription factor implicated in skeletal development. Approximately 70% and ~2.5% of Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) patients, respectively, have a defect in SHOX or its regulatory regions.Objective and hypotheses: i) To perform SHOX mutation screening in a cohort of 585 patients referred with a clinical suspicion of LWD or ISS. ii) To determine which is the <e...