hrp0082p3-d1-975 | Thyroid | ESPE2014

Prevalence of Additional Autoimmune Diseases in Autoimmune’s Thyroiditis Children and Their First- and Second-Degree Relatives: Results from a Large, Single-Center Study

De Martino Lucia , Di Donato Iolanda , Alfano Sara , D'Acunzo Ida , Di Pinto Rosita , Capalbo Donatella , Salerno Mariacarolina

Background: Autoimmune’s thyroiditis (AT) is the most common cause of thyroid diseases in children and adolescents with a peak in early to mid-puberty (prevalence of 0.3–1.2%). Previous studies showed a high rates of familiarity for autoimmune disease (AD) and co-existing autoimmunity in AT subjects.Objective and hypotheses: Aim of our study is to investigate familiarity for AD and co-existing autoimmunity in a large cohort of pediatric AT pati...

hrp0084p3-788 | DSD | ESPE2015

Persistent Müllerian Duct Syndrome Associated with Anorchia Caused by a Compound Heterozygous Mutation in the AMHR-II Gene

Rojo Jaime Cruz , Lorenzo Lucia Garzon , Fernandez Jone Agirregoitia , del Pozo Cristina Martinez , Picard Jean-Yves , del Pozo Jaime Sanchez

Background: The persistent Müllerian duct syndrome (PMDS) is a rare 46-XY disorder of sex development, characterized by the persistence of Müllerian derivatives (uterus, Fallopian tubes) in otherwise normally virilised males. The condition is transmitted as a recessive autosomal trait and is caused in most cases by a defect in either the anti-Müllerian hormone (AMH) or the AMH type-II receptor (AMHR-II) genes.Case report: We present a 9 ye...

hrp0084p3-954 | GH & IGF | ESPE2015

Long-Term Effects of GH Replacement Therapy on Hematopoiesis in GH Deficient Children

Esposito Andrea , De Martino Lucia , Barbieri Flavia , Rezzuto Martina , Improda Nicola , Cerbone Manuela , Capalbo Donatella , Salerno Mariacarolina

Background: Among their metabolic effects, GH and its mediator IGF1 have been reported to influence hematopoiesis. Indeed, GH/IGF1 axis promotes erythropoiesis and GH deficiency (GHD) has been associated with a normochromic and normocytic anemia both in adults and in children. In contrast, in vivo data on the effects of GH/IGF1 axis on leukocytes and platelets are scanty.Objective and hypotheses: To evaluate the effects of 4-years GH replacement...

hrp0084p3-1196 | Thyroid | ESPE2015

Hoffmann Syndrome in a Boy with Severe Acquired Primary Hypothyroidism

Lorenzo Lucia Garzon , Rojo Jaime Cruz , del Pozo Cristina Martinez , Enamorado Noemi Nunez , del Pozo Jaime Sanchez

Background: Hoffmann syndrome is a specific and rare form of hypothyroid myopathy in adults characterized by presence of muscle stiffness, proximal weakness and pseudohypertrophy. When this occurs in a cretin child it is known as Kocher–Debré–Sémélaigne syndrome. Patients with more severe or longstanding untreated hypothyroidism are more likely to develop clinically significant muscle disease. Serum muscle enzyme levels as CK, myoglobin and lactate deh...

hrp0094p2-115 | Diabetes and insulin | ESPE2021

HbA1c and Glucose Management Indicator relationship: can HbA1c determination be avoided?

Navarro Moreno Constanza , Sanchez Ruiz Daniel , Jose Garcia Garcia Emilio , Elizagarate Izaskun Marchueta , Gomez Gila Ana Lucia ,

Introduction: Continuous Glucose Monitoring (CGM) devices have introduced new metrics to assess metabolic situation of patients with type 1 diabetes mellitus (T1DM). Among them, the glucose management indicator (GMI) provides a proxy to HbA1c, however, these measures do not always match.Purposes: To evaluate the concordance between GMI and HbA1c, and determinate in which scenarios GMI could replace HbA1c.Subjects a...

hrp0097p1-479 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Early-life exposure to phthalates and minipuberty: is there any relationship?

Lucaccioni Laura , Palandri Lucia , Trevisani Viola , Righi Beatrice , Calandra Bonaura Filippo , Predieri Barbara , Righi Elena , Iughetti Lorenzo

Background: Nowadays, the role of minipuberty in influencing pubertal development is well documented. Phthalates are ubiquitous environmental contaminants and endocrine-disrupting chemicals (EDCs) with reproductive toxic effect. Aim of this study is to assess phthalate exposure within the first months of life in a cohort of healthy term infants and their mothers and the possible relationship with minipuberty.Methods: Sin...

hrp0097p2-52 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Patient with ABCD syndrome (Abnormal Calcium, Calcinosis, Creatinine in Down syndrome), a rare cause of pediatric hypercalcemia

Lucia Feller Ana , Aziz Mariana , Gil Silvia , Quarracino Malena , Mendoza Lincolns , Paz Marcos , Vaiani Elisa , Ciaccio Marta , Viterbo Gisela

Introduction: ABCD syndrome is characterized by hypercalcemia, hypercalciuria, nephrocalcinosis, and renal impairment, generally under 4 years old. This is a rare cause of pediatric hypercalcemia with only 7 cases published, but it is believed to be underdiagnosed. The suspected mechanism would be associated with overexpression of transient receptor potential channels (TRP) that modulate intestinal absorption of calcium, since TRP-M2 is encoded on chromosome 2...

hrp0095p1-485 | Fat, Metabolism and Obesity | ESPE2022

Thyroid hormones and food preferences in obese children and adolescents

Staník Juraj , Staníková Daniela , Matláková Lea , Demková Linda , Forišek-Paulová Petronela , Slobodová Lucia , Vitariušová Eva , Tichá Ľubica , Ukropcová Barbara , Ukropec Jozef

Background and Aims: Thyroid hormones profoundly affect energy metabolism but their interrelation with food preference, which might contribute to childhood obesity development, are much less understood. Here we investigated if age-related changes of thyroid hormone levels are paralleled by specific modulation of food preference and potentially linked to the level of obesity in children and adolescents.Patients and Methods:</stron...

hrp0095p2-92 | Fat, Metabolism and Obesity | ESPE2022

Different profiles of lipoprotein particles associate various degree of cardiac involvement in adolescents with morbid obesity

Arciniegas Larry , M. Siurana José , Sabate-Rotes Anna , Amigó Núria , Martínez-Micaelo Neus , Riaza Lucia , Mogas Eduard , Rosés-Noguer Ferran , S. Ventura Paula , Yeste Diego

Introduction: Dyslipidemia secondary to obesity is a risk factor related to cardiovascular disease events, however a pathological conventional lipid profile (CLP) is infrequently found in obese children. The objective of our study is to evaluate the advanced lipoprotein profile (ALP) and its relationship with cardiac changes, metabolic syndrome and inflammatory markers in a population of morbidly obese adolescents with normal CLP and without type 2 diabetes me...

hrp0092p1-362 | GH and IGFs (2) | ESPE2019

Sequencing Approach to Identify Candidate Genes Involved in Short Stature

Formicola Daniela , Pagliazzi Angelica , Peluso Francesca , Cardinale Antonella , Capasso Mario , Iolascon Achille , Tiberi Lucia , Vergani Debora , Vanderwert Fiorenza Irushani , Ricci Franco , Giglio Sabrina , Stagi Stefano

Background/Aims: Short stature is a common reason for presentation to paediatric endocrinology clinics. Getting to a diagnosis of short stature is a multi-step, complex process of tests that only in a few cases save a diagnosis. As genetic plays a strong role in height, we sought to identify known and novel genetic causes of short stature.Methods: We recruited 18 children with severe short stature, we conducted whole exo...