hrp0094p1-152 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Impact of gestational weight gain on methylation of imprinted genes in umbilical cord and its relationship with postnatal growth and metabolism

Mas-Pares Berta , Carreras-Badosa Gemma , Gomez-Vilarrubla Ariadna , Xargay-Torrent Silvia , Maroto Anna , Prats-Puig Anna , Puerto-Carranza Elsa , Zegher Francis de , Ibanez Lourdes , Bassols Judit , Lopez-Bermejo Abel ,

Introduction: Imprinted genes are critical for placental function and normal fetal growth and development. Very little is known about the impact of maternal obesity on imprinted genes and their role in postnatal growth and metabolism.Objectives: 1) To identify umbilical cord DNA methylation sites (CpG) associated with gestational weight gain (GWG); 2) to identify which of these CpGs lie within imprinting control regions ...

hrp0094p2-172 | Fat, metabolism and obesity | ESPE2021

Metabolic syndrome and birth anthropometric data in Prader-Willi syndrome.

Salvatoni Alessandro , Agosti Massimo , Azzolini Sara , Bonaita Valentina , Crino Antonino , Delvecchio Maurizio , Augusta Greggio Nella , Iughetti Lorenzo , Madeo Simona F , Nosetti Luana , Osimani Sara , Paino Roberta , Rutigliano Irene , Sacco Michele , Salvatore Silvia , Sartorio Alessandro , Grugni Graziano ,

Introduction: Previous studies showed that non-obese children and adults with Prader-Willi syndrome (PWS) have a low frequency of metabolic syndrome (MetS), while obese ones have a frequency similar to that of non-PWS obese. It is known that individuals born small for gestational age (SGA) have a greater predisposition to the development of MetS. Recent neonatal percentiles of subjects with PWS (Salvatoni et al, Am J Med Genet Part A, 2019) documented...

hrp0094p2-240 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) | ESPE2021

Hypomethylation of the Prader-Willi imprinting control region associates with postnatal growth and visceral adiposity in healthy children

Carreras-Badosa Gemma , Mas-Pares Berta , Gomez-Vilarrubla Ariadna , Xargay-Torrent Silvia , Puerto-Carranza Elsa , de Arriba Munoz Antonio , Prats-Puig Anna , de Zegher Francis , Ibanez Lourdes , Bassols Judit , Lopez-Bermejo Abel ,

Introduction: Children with Prader-Willi syndrome present with short stature and obesity. However, very little is known about the role of this imprinted control region in the general population. This study aims to analyze the methylation status of the PWS imprinting control region (ICR) in placenta and its association with postnatal growth and obesity parameters in healthy children.Methodology: The methylation percentages of the PWS-ICR ...

hrp0097rfc14.5 | Late Breaking | ESPE2023

Functional demonstration that variants in the C-terminal of IHH cause short stature and/brachdactyly

Diaz-González Francisca , Modamio-Høybjør Silvia , Lucas-Castro Elsa , Coral Barreda-Bonis Ana , Campos-Barros Angel , González-Casado Isabel , Sentchordi-Montané Lucia , E. Heath Karen

Introduction: Variants in the N-terminal of the Indian-hedgehog gene (IHH) have been associated with Brachydactyly type-A1 (AD) and Acrocapitofemoral dysplasia (AR), only three of which have been functionally studied. However, heterozygous IHH variants, majority classified as variants of unknown significance (VUS) are being increasingly identified, not only in the N-terminal but also in the uncharacterized C-terminal, by NGS, in individuals with short...

hrp0097p2-117 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Pediatric onset hypophosphatasia: a case report

Mascaro Rossella , Lia Magnacavallo Anna , Finamore Martina , Ferri Chiara , Palmoni Monica , Polenzani Ilaria , Rizzi Alessia , Laura Carla Meroni Silvia , Bucolo Carmen , Pitea Marco , Weber Giovanna , Barera Graziano , Cinzia Pozzobon Gabriella

A 8 years and 7 months old male presented with short stature related to his target height. No history of bones fractures. The patient was 120.7 cm (- 1.77 SDS). Physical exam demonstrated peculiar facies, relative macrocephaly, delayed tooth eruption and pectus carinatum. He referred during the clinical evaluation diffuse bone pain and weakness, mostly exacerbated by sport activity. A first diagnostic investigation had already been made showing low serum alkaline phosphatase a...

hrp0098fc7.4 | GH and IGFs | ESPE2024

Growth Hormone Response to Glucagon Stimulation Test in Transitional Age

Fava Daniela , Vanorio Barbara , Santucci Chiara , Parodi Stefano , Pepe Alessia , Repetto Agnese , Caridi Claudia , Acquarone Lucia , Data Erica , Merlo Silvia , Napoli Flavia , Tedesco Caterina , Angelelli Alessia , Panciroli Marta , Casalini Emilio , Di Iorgi Natascia , Maghnie Mohamad

Context: In the diagnosis of permanent GH deficiency (GHD) during the transition phase, the 2019 AACE guidelines recommended peak GH-cutoffs of ≤3µg/L and ≤1µg/L for the glucagon test (GST), while a recent investigation identified a value <5.8μg/L as a suitable gold standard (Fava et al, Journal of Clinical Endocrinology and Metabolism, 2024). However, the clinical applicability of this cutoff remains to be confirmed and the potential c...

hrp0098p1-92 | Sex Endocrinology and Gonads 1 | ESPE2024

Phenotypic spectrum of WT1 gene variants in DSD

Celeste Mattone María , Turizo Carmen , Pérez Garrido Natalia , Gil Silvia , Cesar Ramírez Pablo , Roxana Marino , Laura Galluzzo Mutti María , Belgorosky Alicia , Ciaccio Marta , Berensztein Esperanza , Guercio Gabriela , Costanzo Mariana

Background: Wilms' Tumor Suppressor Gene 1 (WT1) plays an essential role in urogenital and kidney development. Germline variants in WT1 are associated with life-threatening glomerulopathy, disorders of gonadal development in both 46,XY and 46,XX individuals, Wilms tumor, and gonadal malignancies. Phenotypic overlap among 46,XY affected subjects has been frequently observed and there is still scarce information regarding renal involvement...

hrp0098p1-286 | Thyroid 3 | ESPE2024

Has COVID-19 Changed Pediatric Graves' Disease? A Study Investigating Post-Pandemic Trends

Alessandro Naim , Silvia Merlo , Zonca Viviana , Naim Sara , Calevo Mariagrazia , Varotto Carolina , Casalini Emilio , Fava Daniela , Elsa Maria Allegri Anna , Angelelli Alessia , Napoli Flavia , Tedesco Caterina , Di Iorgi Natascia , Gastaldi Roberto , Maghnie Mohamad

Introduction: Graves'disease (GD) is the most common cause of hyperthyroidism in pediatric populations. Recent observations at our tertiary center suggest a potential increase in pediatric GD cases following the COVID-19 pandemic. This single-center study aims to investigate the potential increase in GD cases and explore any significant differences in clinical presentation and outcomes before and after the onset of COVID-19 pandemic.<p class="abstext"...

hrp0092p3-52 | Diabetes and Insulin | ESPE2019

Off Label use of CGM in a Pediatric Patient with Type 1 Diabetes Mellitus Under the Age of 2

Burdea Liliana , Robinson Sylvia , Mantis Stelios

Introduction: Continuous Glucose Monitoring (CGM) is an asset for patients with type 1 DM. The Dexcom G6 is FDA approved for use in patients 24 months and older. This CGM does not require any calibrations or point of care interventions and lasts up to 10 days when inserted into the subcutaneous tissue. We present a case of a 17 month-old patient started on CGM (Dexcom G6), with subsequent improvement in glucose variability and continued excellent glycemic cont...

hrp0092p3-251 | Thyroid | ESPE2019

A Case of Graves Disease with Negative Thyrotropin Stimulating Antibodies in a Pediatric Patient with Type 1 Diabetes

Burdea Liliana , Robinson Sylvia , Minutti Carla

Background: Graves disease (GD) is an autoimmune condition caused by direct stimulation of the thyroid epithelial cells by thyrotropin (TSH) receptor antibodies (TRAb). The action of TRAb can be stimulating, blocking or neutral. Antibodies with agonist action are also called thyroid stimulating immunoglobulins (TSI). The diagnosis of GD is typically confirmed with TSI titer which is positive in >90% of patients. In patients that have negative TSI, high...