hrp0084p3-990 | Gonads | ESPE2015

The Consequences of Polycystic Ovary Syndrome in Adolescent Girls

Brad Giorgiana Flavia , Marcovici Tamara , Belei Oana , Popoiu Calin , Olariu Laura , David Vlad , Marginean Otilia

Background: Polycystic ovary syndrome (PCOS) represents one of the most common complains for adolescent girls to present to endocrinologist. PCOS has the potential to affect the young person both metabolically, physically, psychologically and socially.Objective: To evaluate the metabolic and psychological consequences of PCOS in adolescent girls.Method: Adolescent girls admitted in the Endocrinology Department of Children Emergency...

hrp0097p1-330 | Growth and Syndromes | ESPE2023

A complex phenotype due to the overlap of two rare conditions: miller-mckusick-malvaux (3M) and chung-jansen syndrome

Chiarito Mariangela , Giordano Mara , Mellone Simona , Urbano Flavia , Felicia Faienza Maria

Introduction: I. was born at term by emergency caesarean delivery due to foetal distress, by unrelated parents. Birth weight: 2160 g (-3.18 SD), length 41.5 cm (-4.47 SD), head circumference 35.4 cm (0.57 SD). He was admitted in the neonatal intensive care unit (NICU) for the severe growth retardation associated to dysmorphic features. Neonatal screening, echocardiography and brain ultrasound normal. Karyotype: 46,XY.Case present...

hrp0097p2-33 | Fat, Metabolism and Obesity | ESPE2023

Obesity-related Hypothyroidism in Children

Otilia Bizerea-Moga Teofana , Olah Orsolya , Ilieș Cristina , Flavia Brad Giorgiana , Mărginean Otilia

Key Words: obesity, subclinical hypothyroidism, childrenIntroduction: There is a growing interest in the relationship between obesity and thyroid dysfunction, even more so nowadays when obesity has become a widespread global issue. Initially believed to be the cause of obesity, the risk of developing hypothyroidism may be increased in obese children due to adaptive mechanisms. The study aims to evaluate the prevalence of...

hrp0097p2-8 | Growth and Syndromes | ESPE2023

Growing Tall and Staying Slim During a Pandemic: The Power of rGH

Pop Raluca-Monica , Aurelian Tiuca Robert , Maria Radulescu Flavia , Ionela Pascanu Maria

Keywords: COVID 19, height trajectory, rGHBackground: Various factors can interfere with height and body mass index (BMI) trajectories and therefore, auxological parameters reflect children’s health status. The COVID-19 pandemic has had an important impact on all the social determinants of health.Aim: The aim of the current study was to assess the effect of recombinant growth...

hrp0098p1-102 | Thyroid 1 | ESPE2024

Diagnosis and treatment of a child affected with a novel thyroid hormone receptor alpha (thra) gene mutation

Felicia Faienza Maria , Giardinelli Silvia , Antonio Moscogiuri Luigi , Urbano Flavia , Matera Emilia , Refetoff Samuel

Case report: We describe a 4-year-old girl, born by vaginal delivery after 41 weeks gestational (length: 55 cm, 99thcentile, weight: 4.8 kg, 99th centile). TSH on newborn screen was normal. Evaluated in the first month of life by gastroenterologists for severe constipation required several hospitalizations and investigation by endoscopy, biopsy, and rectal manometry. Constipation was treated by continuous polyethylene glycol administratio...

hrp0098p1-235 | Fat, Metabolism and Obesity 4 | ESPE2024

Towards a “Genetic Obesity Risk Score”: preliminary data from a single-centre cohort of obese children and adolescents

Partenope Cristina , Monteleone Giorgia , Rovellotti Matteo , Petri Antonella , Prodam Flavia , Bellone Simonetta , Rabbone Ivana

Background: Genetic factors play an important role in determining individual susceptibility to weight gain and obesity. In the last few years, several genetic variants have been identified as causative of monogenic/syndromic forms of obesity, mainly involved in the hypothalamic leptin-melanocortin pathways (LMP) that regulates food intake and energy homeostasis.Methods: Pediatric patients (<18 years) with severe obesi...

hrp0098p3-122 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2024

Challenging management of an extreme preterm neonate with persistent hypoparathyroidism

Partenope Cristina , Capra Eleonora , Binotti Marco , Giraudo Isaac , Petri Antonella , Rabbone Ivana , Prodam Flavia , Bellone Simonetta

Background: Symptoms of hypocalcaemia in neonates are nonspecific, including irritability, fine tremors and seizures or sudden death due to arrhythmias. Transient hypoparathyroidism is common in the first days of life in preterm infants. Permanent hypoparathyroidism is primarily due to genetic or autoimmune factors, with post-surgery or infiltration-related forms being rare in pediatrics.Case Presentation: A baby was bor...

hrp0095p1-483 | Fat, Metabolism and Obesity | ESPE2022

The ecology of the microbiome in children with congenital generalized lipodystrophy type 4 (CGL4) is quickly modified after metreleptin treatment

Mancioppi Valentina , Daffara Tommaso , Caputo Marina , Bellone Simonetta , Massa Nadia , Caramaschi Alice , Mignone Flavio , Romanisio Martina , Rabbone Ivana , Giordano Mara , Aimaretti Gianluca , Bona Elisa , Prodam Flavia

Introduction: Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and genetic background. The role of microbiota is still uninvestigated.Objective: Evaluate the gut microbiome ecology in relation to dietary and clinical parameters in two infant siblings with congenital generalized lipodystrophy type 4 (CGL4) before and after treatment with recombinant le...

hrp0095p2-226 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Polyuria-polydipsia- first sign of a rare hematological disease

Loredana Vasilache Simona , Cima Luminiţa , Fica Simona , Sfrijan Doiniţa , Sorin Târnăveanu , Ultimescu Flavia , Coliţă Anca

Introduction: Central diabetes insipidus (CDI) is a rare disorder in children. The etiology of CDI in childhood is heterogeneous: tumors or surgery in the hypothalamic-pituitary region, head trauma, vascular and inflammatory diseases. Neuroimaging plays an important role in the differential diagnosis of CDI in children and adolescents. The MRI may detect brain malformations, but also is the gold standard when evaluating the sellar-suprasellar region in CDI.</p...

hrp0092p1-391 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Foramen Magnum Stenosis (FMS): Neuroradiological Aspects before and after Cervical Decompression in Paediatric Patients with Achondroplasia (ACH).The 'Achondroplasia Multidisciplinary Gaslini's Group' (AMGG) Istituto Giannina Gaslini, Genova, Italy: Child Neuropsychiatry Unit, Neuroradiology Unit, Department of Paediatrics, Neurosurgery Unit, Orthopedic Unit, Rehabilitation Unit, Pulmonary Disease and Allergy Unit.

Allegri Anna Elsa Maria , Di Iorgi Natascia , Napoli Flavia , Patti Giuseppa , Siri Giulia , Severino Mariasavina , Piatelli Gianluca , Maghnie Mohamad

The identification of anamnestic, clinical and instrumental data indicative of pathological FMS plays a pivotal role in the prevention of ACH complications.Objective: identify key cranio-cervical junction(CCJ)neuroradiological features for the surgical choice and for the neuroradiological decompression outcome.Methods: from a total of 191 patients, we selected 24 subjects with ACH (age:<4years)...