hrp0094p2-1 | Adrenals and HPA Axis | ESPE2021

Circadian rhythm of salivary cortisol and cortisone in school-aged children born very preterm and adequate for gestational age

Ochoa Maria Fernanda , Dominguez Gonzalo , Poggi Helena , Martinez Alejandro , Moore Rosario , Garcia Hernan , D’apremont Ivonne , Allende Fidel , Solari Sandra , Campino Carmen , Fardella Carlos , Baudrand Rene , Carvajal Cristian ,

Introduction: Higher evening cortisol level has been previously described in very preterm infants, possibly reflecting increased Hypothalamic-Pituitary-Adrenal Axis (HPA) tone or alterations in HPA regulation throughout the day. These relatively subtle differences in HPA axis function in preterm compared to full-term children may become meaningful in terms of metabolic risk later in life if sustained over time. Still, only a few studies have investigated wheth...

hrp0097fc8.4 | Fat, metabolism and obesity 2 | ESPE2023

Irs1 expression in peripheral blood associates with obesity and cardiovascular risk parameters in school-age girls

Gómez-Vilarrubla Ariadna , Niubó-Pallàs Maria , Mas-Parés Berta , Carreras-Badosa Gemma , Bonmatí Alexandra , Estevez-Reinares Enrique , Martinez-Calcerrada Jose-María , de Zegher Francis , Ibañez Lourdes , López-Bermejo Abel , Bassols Judit

Background and Aim: IRS1 (Insulin Receptor Substrate 1) is involved in the insulin signalling pathway and abnormalities thereof have been related to metabolic disorders and obesity. In obese subjects, insulin resistance has been associated with changes in IRS1 expression in peripheral in blood. Sex-based differences in cardiovascular disease are well established. Previous results from our group disclosed the association between IRS1 placental methylation with ...

hrp0098rfc6.6 | Fat, Metabolism and Obesity 1 | ESPE2024

Potential role of aspg methylation as a biomarker of childhood obesity

Gomez-Vilarrubla Ariadna , Niubó-Pallàs Maria , Mas-Parés Berta , Carreras-Badosa Gemma , Bonmatí Alexandra , Martinez-Calcerrada Jose-María , de Zegher Francis , Ibañez Lourdes , López-Bermejo Abel , Bassols Judit

Introduction: A global methylation array previously performed by our group in placental samples revealed a nominal association of a CpG site (CpGs) located at chr14:104552209 in the ASPG (Asparaginase) gene with childhood obesity. ASPG (Asparaginase) when used to treat haematologic neoplasms can cause liver steatosis. Asparaginase reduces asparagine blood levels, which is known to promote the development of metabolic syndrome and obesity in both child...

hrp0098p1-87 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2024

Phenotypic characteristic of a large cohort of pediatrics Argentine patients with PSIS. High Prevalence of Mutations in ROBO1 gene

Isabel Di Palma María , Plomer Paula , Marino Roxana , Perez Garrido Natalia , Belgorosky Alicia , Ramirez Pablo , Manuel Lazatti Juan , Inés Perez Millán María , Perticarari Catalina , Martinez Mayer Julián , Ciaccio Marta

Introduction: Pituitary stalk interruption syndrome (PSIS) is a rare congenital disorder characterized by absent, thin, or interrupted pituitary stalk, absent or ectopic neurohypophysis, and hypoplasia or aplasia of the adenohypophysis. It often accompanies midline abnormalities and diverse endocrine dysfunction, with its etiology largely unknown. Recent reports have linked mutations in the ROBO1 gene to PSIS.Aim: To des...

hrp0098p2-205 | Multisystem Endocrine Disorders | ESPE2024

Congenital disorders of glycosylation (CDG): Endocrinological features in a case of twin siblings with a ALG1 gene defect.

Quarracino Malena , Vaiani Elisa , Inés Perez Millán María , Martinez Mayer Julián , Perticarari Catalina , Gallo Adolfo , Cervio Carolina , Isabel Di Palma María , Belgorosky Alicia , Viterbo Gisela , Ciaccio Marta

Introduction: Congenital disorders of glycosylation (CDG) are metabolic conditions resulting from defects in the glycosylation pathway. In addition to the primary neurological symptoms, other possible clinical findings may include distinctive coagulation abnormalities, as well as hepatic, gastrointestinal and, less frequently, hormonal disorders. The ALG1 gene defect is the third most prevalent CDG and compromises β-1,4 mannosyltransferase activity, which...

hrp0084p2-310 | DSD | ESPE2015

Management of Gonads in Adults with Androgen Insensitivity: An International Survey

Maris Ellen , Looijenga L H J , Cools Martine

Background: Individuals with androgen insensitivity syndrome (AIS) have an increased risk for developing a germ cell cancer (GCC). The risk is low during childhood; therefore, gonads are commonly preserved until after puberty. Little is known about GCC development in AIS during adulthood. This question is particularly relevant as many adult AIS women decline gonadectomy.Objective and hypotheses: To gain insight in attitudes towards gonadectomy in various...

hrp0097p1-571 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Early and long-term gender-affirming treatment does not alter final height in transgender youth

Ciancia Silvia , Klink Daniel , Craen Margarita , Cools Martine

Keywords: transgender, GnRH agonists, gender affirming hormones, final height, growth, pubertyBackground: Trans boys (TB) and trans girls (TG) who start medical gender-affirming treatment at Tanner stage 2-3 undergo early puberty suppression (ePS) with Gonadotropin-Releasing Hormone agonists (GnRHa) for several years and subsequently receive gender-affirming hormones (GAH), around 15-16 years. This treatment clearly inte...

hrp0094p1-43 | Sex Endocrinology and Gonads A | ESPE2021

Broad range of phenotypes in an international cohort of 75 DSD individuals with SF-1/NR5A1 variants

Kouri Chrysanthi , Sommer Grit , Ahmed Faisal , Balsamo Antonio , Baronio Federico , Bryce Jillian , Camats Nuria , Cetinkaya Semra , van der Grinten Hedi L Claahsen , Cools Martine , Darendeliler Fatma Feyza , Davies Justin H , Fabbri-Scallet Helena , Globa Evgenia , Guerra-Junior Gil , Guran Tulay , Hannema Sabine , Hiort Olaf , Janner Marco , Kalinchenko Natalia , Lachlan Katherine , Kolesinska Zofia , l’Allemand Dagmar , Lang-Muritano Mariarosaria , Lucas-Herald Angela , Martin Idoia Martinez de Lapiscina , Mazen Inas , Moenig Isabel , Muhrer Julia , Niedziela Marek , Nordenstrom Anna , Orman Burce , Poyrazoglu Sukran , Tack Lloyd , Tadokoro-Cuccaro Rieko , Wasniewska Malgorzata , Yavas Zehra , Zelinska Nataliya , Fluck Christa E ,

Background: Steroidogenic Factor 1 (NR5A1/SF-1) is essential for the development and function of human sex and steroid organs. Variants of SF-1 lead to a broad spectrum of phenotypes including adrenal insufficiency and differences of sex development (DSD), but data on the whole picture of phenotypes in individuals with SF-1 variants are currently lacking. We aim to investigate the phenotype of individuals with SF-1 variants in a large interna...

hrp0097p1-43 | Diabetes and Insulin | ESPE2023

Our experience in neonatal diabetes mellitus: clinical and molecular characterisation

Salamanca Fresno Luis , Gomes Porras Mariana , Pozo Román Jesús , Del Pozo Ángela , Rodríguez Jiménez Carmen , González Casado Isabel , Campos Barros Ángel

Introduction: Neonatal Diabetes Mellitus (NDM) is characterised by severe hyperglycaemia, usually diagnosed in the first 6 months of life. Genetic diagnosis helps distinguishing between its different causes and between transient (TNDM) and permanent (PNDM) forms, with repercussions on the therapeutic approach and follow-up.Aim: Clinical and molecular characterisation of a series of NMD cases under endocrinological follow...

hrp0098p3-252 | Thyroid | ESPE2024

Impact of Subclinical Hypothyroidism on Pediatric Health: A Summary of Findings

Soliman Ashraf , Alaaraj Nada , Sabt Amal , Hamed Noor , Ahmed Shayma , Alyafei Fawzia

Objective: To synthesize evidence on subclinical hypothyroidism (SH) in children, focusing on prevalence, diagnostics, treatment, and progression.Methods: Review of 28 studies including observational cohorts and clinical trials on pediatric SH.Results: SH in children is associated with increased risks of obesity, metabolic syndrome, non-alcoholic fatty liver disease (NAFLD) due to ...