hrp0084p3-659 | Bone | ESPE2015

Vitamin D Status in Romanian Children 0–18 Years – Should we be More Careful Regarding Supplementation?

Chirita-Emandi Adela , Puiu Maria

Background: In Romania (latitude 48°15’N to 43°40’N), vitamin D supplementation is a common practice mostly in 0–2 year old infants. No published information is available regarding vitamin D status in Romanian children.Objective and hypotheses: We aimed to evaluate the seasonal and age variation of vitamin D status in a large Romanian pediatric patient population.Method: 1 395 individuals, 0–18years, f...

hrp0095p1-156 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Cushing´s disease in children and adolescents: Experience of a single tertiary center

Gil Silvia , Gonzalez Ramos Javier , Mansilla Celeste , Fernandez Fastuca Laura , Lubieniecky Fabiana , Rugilo Carlos , Ciaccio Marta , Isabel Di Palma Maria

Cushing’s disease (CD) is rare entity especially in pediatric patients. It is associated with significant morbidity. Early diagnosis and treatment is important for optimal outcome.Aim: To evaluate the clinical, biochemical, pathology, treatments and outcome in a cohort of CD pediatrics patients in a single tertiary center.Subjects and Methods: Retrospective review of 27 medical records of CD ...

hrp0095p2-250 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Clinical case: Diagnostic / therapeutic procedure of a 46,XY complete gonadal dysgenesis.

Balsamo Antonio , Baronio Federico , Wischmeijer Anita , Menabò Soara , Cristina Meriggiola Maria , Schwienbacher Christine , Di Natale Valeria , Cassio Alessandra

The proband is a Caucasian girl with primary amenorrhea and no breast development at the age of 16 11/12 yrs. Unrelated parents; an older brother in good health and a twin brother (GA 31 days; BW 1450g) with reported agenesis of the corpus callosum and socio-emotional behavioral problems. The mother (menarche 14 yrs. and bicornuate uterus) presented four early spontaneous abortions and one stillborn fetus (46, XX) in the 6th month of pregnancy; remaining negative family histor...

hrp0092p2-298 | Thyroid | ESPE2019

Neonatal Hyperthyroidism: Our Centre's Experience

Vigone Maria Cristina , Vincenzi Gaia , Caiulo Silvana , Di Frenna Marianna , Saracco Luca , Cecchetti Valeria , Mosca Fabio , Barera Graziano , Weber Giovanna

Objective: Neonatal hyperthyroidism is a severe but generally transient condition with a 2% prevalence in offspring of mothers affected by Graves' disease. It is caused by the transplacental passage of maternal anti-thyrotropin receptor stimulant antibodies (TRABs). Here we report the cases diagnosed at our centre between 2015-2019 in order to re-evaluate the diagnostic and therapeutic approach to this challenging neonatal thyroid alteration.<p cla...

hrp0089p1-p251 | Thyroid P1 | ESPE2018

Congenital Hypothyroidism (CH) with Delayed TSH Elevation: The Importance of The Second-Screening Strategy and the Evolution of CH in Preterm Infants

Caiulo Silvana , Vigone Maria Cristina , Olivieri Antonella , Frenna Marianna di , Vincenzi Gaia , Barera Graziano , Corbetta Carlo , Weber Giovanna

Objectives: Preterm infants often present CH characterized by delayed TSH elevation. We describe the clinical and biochemical features and the evolution of CH in preterm infants with delayed TSH elevation, detected by the second screening for CH.Material and Methods: All preterm infants born between 2007 and 2014 negative to the first screening (b-TSH<10 mcU/ml) at 2–5 days of life and positive to the second screening at 12–33 days (b-TSH&#...

hrp0086p2-p933 | Thyroid P2 | ESPE2016

Clinical Case of Acute Liver Injury in Pediatric Patient with Autoimmune Hyperthyroidism

Caiulo Silvana , Vigone Maria Cristina , Peroni Elena , di Frenna Marianna , Saracco Luca , Memoli Massimo , Barera Graziano , Weber Giovanna

Background: Autoimmune hepatitis (AIH) and methimazole (MMI)-induced toxic hepatitis are both rare diseases in pediatric age.Case presentation: We present the case of a 15-year-old girl affected by idiopathic arthritis and autoimmune thyroiditis. The autoimmune thyroiditis was diagnosed at 13 years of age. At 15 years old she developed hyperthyroidism (TSH <0.01 mcU/ml, FT4 2.3 ng/dl, FT3 8.4 pg/ml, TRAb 18 IU/l) and was treated with MMI (0.28 mg/kg ...

hrp0082p1-d1-241 | Thyroid | ESPE2014

Twin Couples and/or Triplets Discordant for Congenital Hypothyroidism at Birth: the Importance of the Re-screening at 2–4 Weeks of Life

Olivieri Antonella , Medda Emanuela , Cassio Alessandra , Weber Giovanna , Costa Pietro , Calaciura Francesca , Vigone Maria Cristina , Russo Valentina Di , Fazzini Cristina

Background: A high risk of congenital hypothyroidism (CH) has been documented in multiple pregnancies. Over the years special screening procedures for preterm and twin babies (re-screening at 2–4 weeks of life) have been adopted by many screening laboratories worldwide. However, no extensive studies have been performed to verify how many co-twins with negative test at first screening (3–5 days of life) become positive at re-screening, and the utility of a long-term f...

hrp0082p2-d1-587 | Thyroid | ESPE2014

Mutation of the TSH Receptor Gene: a Longitudinal Study in Children with Non-Autoimmune Subclinical Hypothyroidism

Vigone Maria Cristina , Sonnino Micol , Guizzardi Fabiana , Frenna Marianna Di , Caiulo Silvana , Gelmini Giulia , Persani Luca , Weber Giovanna

Background: Neonatal screening strategies revealed an increase in hypothyroidism associated with an in-situ thyroid gland due to TSH receptor (TSHR) mutations. While there are many genetic and functional studies regarding TSHR mutations, few are found concerning the clinical course and long-term outcome of TSH resistance involving the pediatric population.Objective and hypotheses: To determine the impact of TSHR mutations on clinical course, biochemical ...

hrp0084p2-456 | Growth | ESPE2015

The Effect of Inhaled Glucocorticoid Therapy on Growth Patterns in Pre-Pubertal Children with Asthma Compared to Controls

De Leonibus Chiara , Roze Zane , Attanasi Marina , Marcovecchio Maria Loredana , Di Pillo Sabrina , Chiarelli Francesco , Mohn Angelika

Background: Controversial data exist on the possibility that inhaled glucocorticoids (IGs) affect growth in children with mild-to-moderate asthma. The majority of these studies are short-term reports lacking long-term assessment until the achievement of final height (FH).Objectives: To assess whether IGs affect growth and FH in asthmatic children compared to controls.Methods: 113 asthmatic (57/56 (males/females)) were compared to 6...

hrp0097p1-467 | Fat, Metabolism and Obesity | ESPE2023

Evaluation of concentrations of homocysteine in obese and overweight adolescents and its correlation with lipid and carbohydrate parameters

Rumińska Małgorzata , Witkowska-Sędek Ewelina , Krajewska Maria , Majcher Anna , Stelmaszczyk-Emmel Anna , Pyrżak Beata

Background: Metabolic and hemodynamic obesity-related disorders are a major risk factor for cardiovascular disease in children with excess body fat mass. Studies in adults suggest that serum homocysteine is a marker of atherosclerosis and is associated with vascular dysfunction. Studies in children are inconclusive. The aim of the study was to evaluate the association between homocysteine concentrations and lipid and carbohydrate metabolism parameters in obese...