hrp0082p2-d3-562 | Puberty and Neuroendocrinology (2) | ESPE2014

Central Precocious Puberty as the Initial Manifestation of a Pilocytic Astrocytoma with Leptomeningeal Dissemination Simulating a Hypothalamic Dysgerminoma

Galo Blanca Lidia , Fernandez Diego Yeste , Campos Ariadna , Clemente Maria , Carrascosa Antonio , Llort Anna

Introduction: Pilocytic astrocytoma is the most common type of CNS astrocytoma in children. Clinical manifestations depend on its location and size and initial symptoms are usually related to neurological deficits or signs and symptoms of intracranial hypertension. Involvement of the hypothalamic area, pituitary infundibulum and leptomeningeal spread are exceptional. The case of a patient with central precocious puberty in whom the initial neuroimaging study oriented the diagn...

hrp0084p3-1041 | Growth | ESPE2015

Patient with Classic Phenotype of Hypochondroplasia and Deletion of the Gene SHOX

Dominguez Mildred , Amoretti Sonia , Ropero Esther , Campos Ariadna , Clemente Maria , Yeste Diego , Fernandez Paula

Background: Hypochondroplasia is an osteochondrodysplasia inherited in an autosomal dominant pattern that results in a disproportionately short stature, characteristic facial features and skeletal alterations such as lordosis and genu valgum. Haploinsufficiency of the fibroblast growth factor receptor 3 gene (FGFR3) is responsible for 50–70% of the cases, but a negative result doesn’t rule it out.Case presentation: We report a...

hrp0082p3-d3-651 | Autoimmune Endocrine Disease | ESPE2014

Diabetes Mellitus after Hematopoietic Stem Cell Transplantation

Narvaez Barros Karla Maria , Martorell Ariadna Campos , Leon Maria Clemente , Alvarez Izaskun Elorza , Fernandez Diego Yeste , Lezcano Antonio Carrascosa

Background: Patients who have received an hematopoietic stem cell transplantation (HSCT) have more risk of endocrine complications (hypothyroidism, hypogonadism, and growth retardation) but the incidence of diabetes after HSCT is not as well known. The pathogenesis of the diabetes is not well established, and is believed to be multifactorial: chemotherapy, pancreatic irradiation, inflammatory cascade and cytokines, steroids and predisposing genetic factors.<p class="abstex...

hrp0084p3-1220 | Thyroid | ESPE2015

Transient Hyperthyroidism Associated with a Thyroid Nodule

Pieck Alejandro Vargas , Fernandez Diego Yeste , Pontnou Marta Garrido , Leon Maria Clemente , Martorell Ariadna Campos , Lezcano Antonio Carrascosa

Introduction: Developing an acute onset thyroid nodule is rare in children and usually associates with infectious or neoplastic disease; when linked to hyperthyroidism, the most likely diagnosis is toxic adenoma.Clinical description: 9-year-old boy with no relevant medical history was seen at the emergency department for acute cervical pain and tumor involving the left thyroid lobe with no inflammatory signs or history of trauma. Physical examination rev...

hrp0084p3-662 | Bone | ESPE2015

Seasonal Differences in Plasma 25-OH Vitamin D Concentrations in Cord Blood

Gomez Sandra Ortigosa , Varo Cristina Manzano , Algar Oscar Garcia , Sierra Antonio Mur , Costa Roser Ferrer , Lezcano Antonio Carrascosa , Fernandez Diego Yeste

Background: 25-OH vitamin D levels in newborns depend directly on their mother’s status. In a previous study, 25-OH vitamin D levels were determined in cord blood in a cohort of women after winter months, showing deficient values in 94% of population (mean 25-OH vitamin D value 10.4±6.1 ng/ml). Correlation between low 25-OH vitamin D levels and low sun exposure, dark skin phototype and Indo-Pakistani ethnicity were observed.Objective and hypoth...