hrp0089p3-p184 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Mutation in UCP2 Gene: A Rare Cause of Hyperinsulinemic Hypoglycaemia Syndrome in a Small-for-Gestational Age Newborn

Clemente Maria , Yesquen Pamela , Campos Ariadna , Mogas Eduard , Fernandez Monica , Yeste Diego

Hyperinsulinism is a common cause of severe and persistent hypoglycaemia during the neonatal period. Eleven genes have been identified that lead to unregulated insulin secretion and hyperinsulinemic hypoglycaemia (HH). Inactivating mutations in UCP2 gene have been described in a very small number of patients with HH. UCP2 protein is an inner mitochondrial carrier protein and its loss of function causes enhanced glucose oxidation and increased intracellular ATP synthes...

hrp0089p3-p185 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Hyperinsulinemic Hypoglycaemia Syndrome in Small-for-Gestational Age Newborns: Clinical Characteristics and Genetic Study

Yesquen Pamela , Clemente Maria , Campos Ariadna , Fernandez Monica , Castillo Felix , Yeste Diego

Hyperinsulinemic hypoglycaemia (HH) is a common cause of severe and persistent hypoglycaemia during the neonatal period. Risk factors for neonatal transient hyperinsulinism are small-for-gestational age (SGA), perinatal asphyxia and maternal diabetes mellitus. This state of hyperinsulinism in SGA newborns could persist from weeks to years, resulting in an important comorbidity; its pathogenesis remains unknown.Objective: To describe the clinical-genetic ...

hrp0086p2-p68 | Adrenal P2 | ESPE2016

Family Character Isolated Pheochromocytoma by Mutation in Vhl gen

Freijo Martin Concepcion , Laura Bertholt Zuber Maria , De la Rubia Fernandez Luis , Naranjo Gonzalez Cristina

Background: Pheochromocytoma is an uncommon tumor, producer of Catecholamines and causing hypertension in childhood. It is associated to genetic alterations, generally related with RET gene disorders.Method: We present the case of a unilateral familial isolated pheochromocytoma, present in father and son, carriers of a heterozygous mutation in the VHL gene (c.235C > G; p.R79G).Case: Male, 9 years-old with history of fever, prof...

hrp0086p2-p285 | Diabetes P2 | ESPE2016

Permanent Neonatal Diabetes by Gene Mutation KCNJ11. Evolution and Treatment after Three Years with Sulphonylureas

Angeles Santos Mata Maria , Fernandez Viseras Irene , Torres Barea Isabel , Jose Macias Lopez Francisco , Catano Luis

Background: Permanent neonatal diabetes (PND)with heterozygous mutations of KCNJ11, respond to treatment with sulphonylureas. We report a case of PND in a baby, and mother previously mis-diagnosed with Type 1 DM. Both were switched from insulin to oral sulphonylureas. We evaluate the response and evolution.Case report: A male newborn at 37 weeks’ gestation, with a birthweight 2750 g (40thC) and length 48 cm (40thC), was admitte...

hrp0086p2-p510 | Fat Metabolism and Obesity P2 | ESPE2016

Nonalcoholic Fatty Liver Disease: Evolution after 1 year of Follow-Up with Different Therapies

Mata Maria Angeles Santos , Viseras Irene Fernandez , Ruiz Jose Pedro Novalbos

Background: Fatty liver disease is diagnosed increasingly in obese children, which pathophysiology remains unexplained. Risk factors as insulin resistance, evolution of steatosis and hypertriglyceridemia, should be taken into consideration in its development.Objective and hypotheses: To analyse the prevalence of hepatic steatosis identified by ultrasound, as well as features and anthropometric data in our population divided into 2 groups: with steatosis ...

hrp0086p2-p524 | Fat Metabolism and Obesity P2 | ESPE2016

Non-Alcoholic Hepatic Steatosis in Obese Children and the Relationship with Insulin Resistance

Fernandez Viseras Irene , Angeles Santos Mata Maria , Jose Macias Lopez Francisco

Background: Hepatic steatosis is common in obese children. The pathophysiology remains unexplained but it is known that insulin resistance and hypertrilycerdemia are involved in its development.Objective and hypotheses: To analyse the prevalence of hepatic steatosis identified by ultrasound, as well as features and anthropometric data in our population divided into two groups: (with steatosis and without steatosis) to assess the risk factors.<p class...

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...

hrp0084p3-1030 | Growth | ESPE2015

Sitting Height/Height Ratio: An Indicator for Genetic Study of the SHOX Gene in Children with Disharmonic Short Stature – An In-House Analysis

Yeste Diego , Dominguez Mildred , Campos Ariadna , Clemente Maria , Fernandez Paula , Plaja Alberto , Carrascosa Antonio

Background: Gene SHOX haploinsufficiency due to deletions or mutations in heterozygosis causes a wide spectrum of phenotypes ranging from very severe disharmonic short stature (S. Léri-Weil, S. Turner) to very mild forms with the appearance of idiopathic short stature (IST) of difficult clinical recognition. Auxological study directed at evaluating body disproportions such as the sitting height/height (SH/H) ratio in patients with IST has been postulated as usefu...

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...

hrp0095p1-360 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Somatostin analogs in a 15 year old boy with gigantism

Hernandez Claudia , Rodriguez Saa Magdalena , Fernandez Ivana , Figurelli Silvina , Daly Adrian , Guitelman Mirta

Introduction: Pituitary gigantism is caused by a somatotroph pituitary tumor that occurs before epiphyseal closure and is associated with increased morbidity due to the systemic effects of chronic hormonal excess. It is an extremely rare disease, with an estimated incidence of 8 per million person-years. Therapeutic modalities for pituitary gigantism are the same as those for acromegaly and include surgery, medication and radiation. Medical treatment plays an ...