hrp0086p2-p589 | Perinatal Endocrinology P2 | ESPE2016

Severe Systemic Pseudohypoaldosteronism Type 1: 5 Years of Evolution

Miguel Gomes Maria , Baptista Vera , Martins Sofia , Marques Olinda , Antunes Ana

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare syndrome characterized by unresponsiveness or resistance to the action of aldosterone. It manifests with persistent salt loss, resulting in hyponatremia, hyperkalemia and metabolic acidosis. High levels of aldosterone and renin activity, confirms the diagnosis. When the inheritance pattern is autosomal recessive it expresses as a severe systemic disease. Often occurs in the neonatal period and presents with recurrent ...

hrp0082p2-d3-400 | Fat Metabolism & Obesity (2) | ESPE2014

Association between Lipid Profile, BMI, and Insulin Resistance Markers in Obese Prepubertal Children

Canete Ramon , Valle Miguel , Martos Rosario , Canete Maria Dolores , Valle-Martos Rosario

Introduction and aims: Obesity is often associated with elevated insulin levels and resistance to insulin action (IR). Insulin regulates the lipid metabolism. In overweight children, IR may well play a greater role than obesity in the development of lipid alterations. This study sought to ascertain whether there was any difference in lipid levels between obese and non-obese children, and to test for correlations between IR markers and BMI.Patients and me...

hrp0082p3-d2-896 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Cord Blood Vitamin D Concentrations in Native and Immigrant Population from a Mediterranean Area in Spain

Guagnelli Miguel Angel , Yeste Diego , Ferrer Roser , Comas Inmaculada , Carrascosa Antonio

Background: Recent studies have found a widespread deficiency of vitamin D during pregnancy. Its significance is still not fully understood, although low Vit-D levels have been associated to increased risk for conditions such as preeclampsia, bacterial vaginosis, neonatal sepsis, and early respiratory infections in the child. Supplementation to the pregnant mother is still a matter of debate, therefore it is important to understand better the causes, risk factors, and possible...

hrp0084p2-393 | GH & IGF | ESPE2015

Study of IGF1 Receptor Gene in Small for Gestational Age Patients with Short Stature Treated with RHGH

Ferrer Marta , de Arriba Antonio , de Zabarte Jose Miguel Martinez , Barrio Eva , Labarta Jose Ignacio

Background: IGF1 is essential for pre and postnatal growth. Mutations in IGF1 receptor (IGF1R) gene have been described in patients with intrauterine growth retardation and other anomalies.Objective and hypotheses: To study IGF1R gene in small for gestational age (SGA) patients with short stature and correlate the results with clinical presentation and response to rhGH treatment.Method: Longitudinal retrospective study of 69 SGA pa...

hrp0084p2-416 | GH & IGF | ESPE2015

Effects of GH Treatment on the Heart in Children with GH Deficiency

Gomez-Guzman Elena , Canete Mara Dolores , Valle-Jimenez Miguel , Caballero-Villarraso Javier , Canete Ramon

Introduction: GH deficiency (GHD) in adults is associated with impaired cardiac function, contributing to increased mortality due to cardiovascular disease. Research has shown that adults with GHD have high levels of brain natriuretic peptide as a measure of cardiac function. GH replacement therapy can improve cardiac function and lower BNP levels. The scarce research carried out in children appears to show that GHD is linked to decreased left-ventricle size and reduced left-v...

hrp0084p3-762 | Diabetes | ESPE2015

Metabolic Control and Glycemic Variability in Pediatric Patients with Type 1 Diabetes in Multiple Daily Injections Therapy Using Automated Bolus Calculator Glucometer

Murillo-Valles Marta , Miguel Federico Vazquez-San , Martinez-Barahona Maria , Bel-Comos Joan

Background: The management of type 1 diabetes is complex, requires a multidisciplinary team and knowledge of the possible advantages of new technologies such as insulin bolus calculators.Aims and objectives: To assess if the use of an automated bolus calculator glucometer Accu-Check Aviva Expert® improves the diabetes control in paediatric patients in multiple daily injections (MDI). To identify which patients benefit most from its use.<p class=...

hrp0084p3-1201 | Thyroid | ESPE2015

NKX2-1 (TTF-1) Germline Mutations are not a Frequent Cause of Congenital Hypothyroidism due to Dysgenesis

Nunez Aidy Gonzalez , del Angel Ariadna Gonzalez , Ortigoza Miguel Angel Alcantara , Cruz Victor Martinez

Background: Mexico is globally ranked as one of the countries with the highest incidence of congenital hypothyroidism. There are few studies that have searched for germinal mutations of candidate genes, such as NKX2-1, in patients with congenital hypothyroidism.Objective and hypotheses: i) To search for NKX2-1 mutations in blood samples of patients with confirmatory diagnosis of congenital hypothyroidism (CH) due to thyroid dysgenesis (...

hrp0097p1-563 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Clinical and analytical presentation of central precocious puberty according to age: a 20-year retrospective study

Luísa de Carvalho Ana , Matilde Carvalho Rita , Martins Sofia , Antunes Ana , Miguel Gomes Maria

Introduction: Central Precocious Puberty (CPP) results from the premature activation of the hypothalamic-pituitary-gonadal axis. Is defined by the onset of secondary sexual characters before 8-years-old in girls and 9-years-old in boys. It’s associated with accelerated growth and advanced bone maturation and can lead to early epiphyseal fusion and reduced final height at adult age.Aims: To evaluate and compare the ...

hrp0097p2-215 | Adrenals and HPA Axis | ESPE2023

Pseudocushing. an exceptional patology in pediatrics

Vela Amaya , Grau Gema , Bermejo Marta , Miguel Vazquez , Garrido Marta , Rica Itxaso

Introduction: PseudoCushing is an unusual pathology. Among adults several cases have been published, however, in paediatrics it is unusual.Objective: Description of a PseudoCushing case from a patient admitted in a hospital and results from a study to discard secondary hypercortisolism due to stress.Patients and methods: 13 years old patient that it is admitted in hospital due to v...

hrp0097p2-95 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Short-term impact of therapy with GNRH analogues on the growth of female children with central precocious puberty: a retrospective study of the last 20 years

Luísa de Carvalho Ana , Carvalho Adriana , Martins Sofia , Antunes Ana , Miguel Gomes Maria

Introduction: Since the 1980s, long-acting gonadotropin-releasing hormone analogues (GnRHa) have been the standard treatment for central precocious puberty (CPP).Aims: To evaluate the short-term response (at 6 and 12 months) of treatment with GnRHa in female children diagnosed with CPP, regarding growth, bone maturation (Greulich and Pyle method), predicted adult height (PAH) and pubertal development (Tanner stages)....