hrp0086p2-p437 | Gonads & DSD P2 | ESPE2016

Primary Amenorrhea as Alarm Manifestation in a Oligosymptomatic Girl with Xq Deletion and Turner Syndrome

Messina Maria Francesca , Civa Rosi , Corica Domenico , Trombatore Jessica , Santucci Simona , De Luca Filippo

Background: Turner syndrome (TS) affects about one in 2500 liveborn females. It results from the loss of all or part of X-chromosome and has a variable phenotype. The classical form is characterised by short stature, skeletal abnormalities, lymphedema, renal and cardiac anomalies, webbed neck, peculiar neurocognitive profile and gonadal dysgenesis. While loss of up to 2/3 of the X chromosome short arm is compatible with normal fertility, chromosome deletions involving Xq are o...

hrp0094p1-99 | Thyroid A | ESPE2021

Early adiposity rebound in children with congenital hypothyroidism diagnosed by newborn screening

Aversa Tommaso , Corica Domenico , Maria Cecilia Lugara , Messina Francesca , Pepe Giorgia , Wasniewska Malgorzata ,

Background: It is reported that children with congenital hypothyroidism (CH) are at increased risk of developing childhood obesity. Moreover, it is known that the timing of adiposity rebound (AR) in childhood is strongly linked with future obesity. Aims of our study were to explore the timing of AR and to identify factors affecting AR in a cohort of children with CH diagnosed by newborn screening and treated with levothyroxine. Design: one-center, retrospectiv...

hrp0097fc6.1 | Pituitary, neuroendocrinology and puberty 1 | ESPE2023

Methylome analysis in idiopathic central precocious puberty girls

Palumbo Stefania , Giurato Giorgio , Cirillo Grazia , Miraglia del Giudice Emanuele , Palumbo Domenico , Grandone Anna

Background: Although the transition from the pre-pubertal condition to puberty occurs physiologically within a bounded age range, recent data indicate a central role for epigenetics in the regulation of several genes that could mediate an alteration of pubertal onset. Moreover, changes occurring during this developmental stage have often been associated with susceptibility to a wide range of diseases in later life. To identify changes in DNA methylation profil...

hrp0097p2-38 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Combined pituitary hormone deficiency caused by a missense de novo variant in FGFR1

Cavallaro Paola , Francesca Messina Maria , Aversa Tommaso , Pepe Giorgia , Wasniewska Malgorzata , Corica Domenico

Background: Heterozygous loss-of-function variants of fibroblast growth factor receptor 1 (FGFR1) are genetic causes of Combined Pituitary Hormone Deficiency (CPHD), Kallmann syndrome (KS) with anosmia/iposmia, Congenital Hypogonadotropic Hypogonadism (CHH) with normosmia and Septo-Optic Dysplasia. It is well-known that these variants are the main genetic factor underlying the development of CHH and KS; however, they have only occasionally been identified in C...

hrp0095rfc11.2 | Late Breaking | ESPE2022

Dynamics of meal-related plasma asprosin levels

Corica Domenico , Pepe Giorgia , Aversa Tommaso , Currò Monica , Curatola Selenia , Li Pomi Alessandra , Alibrandi Angela , Ientile Riccardo , Wasniewska Malgorzata

Background: Asprosin is an adipokine involved in glucose homeostasis and its plasma levels physiologically increases in fasting conditions and decreases with refeeding. In non-diabetic children and adolescents with obesity, insulin resistance (IR) and impaired fasting glucose (IFG) seem to influence the physiological variation in meal-related asprosin levels 120 minutes after an oral glucose load (Corica et al. doi:10.3389/fendo.2021.805700). No data ...

hrp0095t20 | Section | ESPE2022

Sensitivity to thyroid hormones and cardiometabolic risk in euthyroid obese children: a cross-sectional study.

Tropeano Angelo , Corica Domenico , Lorenza Curatola Selenia , Li Pomi Alessandra , Alibrandi Angela , Pepe Giorgia , Aversa Tommaso , Wasniewska Malgorzata

Background: The typical biochemical phenotype related to obesity, that is high serum thyrotropin (TSH) within normal range, low/normal free thyroxine (FT4) and increased free triiodothyronine (FT3) levels, can be interpreted as a resistance to thyroid hormones. It is unclear the role played by thyroid hormones in the pathogenesis of metabolic derangement associated with obesity.Aim: To investigate the association between...

hrp0095p1-232 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Beyond Genetics: Three Sisters with Pseudoypoparathyroidism 1A

Sippelli Fabio , Corica Domenico , Ferraloro Chiara , Romeo Mery , De Sanctis Luisa , Aversa Tommaso , Briuglia Silvana , Wasniewska Malgorzata

Pseudohypoparathyroidism (PHP) is an hereditary disorder characterized by resistance to parathyroid hormone (PTH) and in varying degrees to TSH, GHRH and FSH/LH, and caused by loss-of-function mutations in the GNAS gene, encoding the membrane protein Gs-alpha. Pathognomonic of these patients is a dysmorphic phenotype, called Albright's Osteodystrophy, which includes short stature, obesity, round face, mental delay, subcutaneous ossifications and brachydactyly. The most fr...

hrp0095p1-596 | Thyroid | ESPE2022

Central and peripheral sensitivity to thyroid hormones and glucose metabolism in childhood obesity.

Corica Domenico , Rosaria Licenziati Maria , Calcaterra Valeria , Currò Monica , Curatola Selenia , Rossi Virginia , Ientile Riccardo , Aversa Tommaso , Wasniewska Malgorzata

Objectives: Increased central and peripheral sensitivity to thyroid hormones seems to be associated with an increased risk of developing prediabetes in adulthood. The objective of this study was to evaluate the relationship between the severity of obesity, the presence of glyco-metabolic alterations, and tissue sensitivity to thyroid hormones in prepubertal euthyroid children with simple obesity.Methods: Eighty prepubert...

hrp0095p2-95 | Fat, Metabolism and Obesity | ESPE2022

Compliance and drop-out in children and adolescents with essential obesity

Ferraloro Chiara , Casto Celeste , Corica Domenico , Pepe Giorgia , Valenzise Mariella , Francesca Messina Maria , Arena Giada , Aversa Tommaso , Wasniewska Malgorzata

Introduction: Pediatric obesity is associated with an increased risk of serious long-term complications. Therapeutic failure is influenced by several factors, such as the high dropout rate. A retrospective study was conducted on a cohort of children and adolescents with essential obesity, in order to evalute (1)the average duration of a correct follow-up and the percentage of weight loss at the end of it, (2)the rate of drop-out, researching related factors.</...

hrp0092p1-346 | Fat, Metabolism and Obesity (2) | ESPE2019

Non-Invasive Assessment of Liver Steatosis: Usefulness of Elastography in Obese Children – a Pilot Study.

Corica Domenico , Aversa Tommaso , Bottari Antonio , Pepe Giorgia , Morabito Letteria , Curatola Selenia , Spinuzza Antonietta , Alibrandi Angela , Ascenti Giorgio , Wasniewska Malgorzata

Introduction: Non-alcoholic fatty liver disease (NAFLD) is diagnosed in up to 60% of overweight children. Diagnosis and management of NAFLD is challenging due to the lack of non-invasive imaging biomarkers. Ultrasound (US) is the most widely non-invasive method used to identify liver steatosis, however it has low sensitivity to detect mild steatosis and to quantify hepatic fibrosis. Liver Elastography (LE) is a non-invasive methodology used to evaluate hep...