hrp0082p2-d3-614 | Turner Syndrome | ESPE2014

Aortic Dilation in a Large Cohort of Paediatric and Young Adult Patients with Turner Syndrome

Geniuk Nadia , Vaiani Elisa , Rizzi Ana , Guercio Gabriela , Warman Monica , Michelli Diego , Rivarola Marco , Belgorosky Alicia

Background: Aortic dilation (AD) occurs in Turner syndrome (TS) increasing the risk of aortic dissection at all ages. There are no current guidelines on what specific aortic diameter measurement should provoke concern in pediatric TS. Because of their small stature, an aortic size index (ASI) has been proposed to normalize the ascending aorta (AA) to body size in young adults’ with TS. However, a more reliable index has been also proposed: the ratio of vascular diameter t...

hrp0092p3-278 | Late Breaking Abstracts | ESPE2019

New Mutation of Gnas in a 2 Year Old Oncological Patient

Ariza Jimenez Ana Belen

Introduction: Leydig cell tumors are rare (3% of testicular neoplasms). 80% of cases occurs in adult population, although a quarter is described in prepubertal patients older than four years. The clinic differs according to the patient's age. Activating mutations, acquired and limited to the tumor tissue, are described in exon 11 of the LH receptor gene. And in mixed Sertoli-Leydig tumors activating mutations of the Gs-alpha subunit of the stimulat...

hrp0094wg5.1 | ESPE Working Group on Paediatric and Adolescent Gynaecology (PAG) Symposium | ESPE2021

Deciphering the genetics of central precocious puberty

Latronico Ana Claudia ,

Puberty is a crucial biological process normally occurring at a specific time during the lifespan, during which sexual and somatic maturation are completed, and reproductive capacity is reached. Pubertal timing is not only determined by genetics, but also by endogenous and environmental cues, including nutritional and metabolic signals. During the last decade, we have learned much regarding the essential roles of kisspeptins and the neuropeptide pathways that converge on these...

hrp0082p1-d1-62 | Diabetes | ESPE2014

Effect of Adjunctive Therapy with Cholecalciferol on Residual β-Cell Function in Recent-Onset Type 1 Diabetes Mellitus: a Prospective Pilot Study

Fitas Ana Laura , Almeida Ana Filipa , Limbert Catarina , Lopes Lurdes

Background: Several studies have suggested that vitamin D supplementation in early childhood is successful in decreasing the risk of type 1 diabetes (T1D) through a complex immunomodulatory role. However, Intervening in disease once clinical symptoms have appeared and autoreactive immune responses are active might be more challenging. Controlled trials with vitamin D supplementation in recent-onset T1D have shown mixed results.Objective and hypotheses: T...

hrp0086p1-p817 | Syndromes: Mechanisms and Management P1 | ESPE2016

Silver-Russell Syndrome with 11p15 Epimutation: Clinical Analysis of Adrenarche, Central Puberty and Body Mass Index in a Cohort of French Children

Canton Ana , Brioude Frederic , Netchine Irene

Background: Silver-Russell syndrome (SRS) is characterized by intrauterine and postnatal growth retardation, a typical phenotype and feeding difficulties. It is related to 11p15 ICR1 hypomethylation in up to 50% of the cases. Some patients may exhibit signs of early puberty or premature adrenarche, including premature pubarche and/or an exaggerated adrenarche (high dehidroepyandrosterone sulfate (DHEAS) levels for chronological age). Despite early feeding difficulties, some ch...

hrp0086p2-p974 | Thyroid P2 | ESPE2016

Severe Growth Retardation and Hypothyroidism due to Hashimoto’s Thyroidits

Krstevska-Konstantinova Marina , Stamatova Ana , Gucev Zoran

Background: Hashimoto’s thyroiditis is a common autoimmune disease in pubertal and adolescent girls. In the past years the incidence of this autoimmune disease of the thyroid gland has increased.Objective and hypotheses: We present a 12.5 year old girl who had her first visit at our Pediatric Endocrinology Department at the age of 10 years due to short stature and clinical signs of hypothyroidism. Her height was – 3SD SDS and her BMI was 12.7. ...

hrp0082p3-d2-853 | Growth (3) | ESPE2014

Switching From the Original to the Biosimilar Recombinant Human GH – Omnitrope®: an Experience of a Single Paediatric Centre in Spain

Gila Ana Gomez , Garcia Margarida Palla

Introduction: In 2009/2010 Hospital Virgen del Rocío, Seville, Spain changed the treatment of patients with GH deficiency (GHD) from various original recombinant human GH (rhGH) to a biosimilar rhGh (Omnitrope®, Sandoz).Objective: To evaluate the consequences on growth parameters of switching treatment, from original rhGHs to Omnitrope® in children with GHD, in a window period of 36 months.Metho...

hrp0084p3-1091 | Perinatal | ESPE2015

Transient Neonatal Hypoparathyroidism Secondary to an Unknown Maternal Parathyroid Adenoma

Teresa Perez Maria , Regina Labra , Ana Llorente

Background: Transient neonatal hypoparathyroidism (hPT) by inhibition of fetal parathyroid secondary to undiagnosed asymptomatic hyperparathyroidism (HPT) in the mother often debuts as late neonatal seizures.Objective and hypotheses: To emphasise the indication of maternal metabolic study (Cacium-Ca-, Phosphorus-P- and PTH) in addressing late neonatal hypocalcemia, especially in the case of late neonatal hypocalcemic seizures.Metho...

hrp0084p3-1143 | Puberty | ESPE2015

Premature Adrenarche is Associated to Precocious Thelarche but not to Precocious Gonadarche or Pubarche in Chilean Adolescents

Pereira Ana , Corvalan Camila , Mericq Veronica

Background: Premature adrenarche (PA) has been associated to increased metabolic risk. Areas of controversy regarding associated co-morbidities are precocious pubarche, PCOS and lower birth weight, which may depend on ethnic background.Objective and hypotheses: To describe the risk of precocious thelarche (PT, <8 years), pubarche (PP, <8 years F, <9 years M) and gonadarche (PG, <9 years) in children with premature adrenarche.<p class=...

hrp0092p1-192 | Fat, Metabolism and Obesity (1) | ESPE2019

Changes in Objectively Measured Sleep Quality After an Integral Intervention in Patients with Abdominal Obesity

Azcona Cristina , Catalán Ana , Morell Lydia , Ojeda Ana , Chueca María , Marti Amelia

Aim: to study sleep quality, using accelerometry in children and adolescents with abdominal obesity after a multidisciplinary intervention.Patients, Material and Methods: we included 122 children and adolescents, range age: 7 to 16 years old, diagnosed with abdominal obesity (waist circumference > p90) who participated in an 8-week intervention program to lose weight, with a 2-year follow-up period. Participants were...