hrp0089p1-p240 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Serum Anti-Mullerian Hormone (AMH) concentrations and Reduced Appendix Testis Estrogen Receptor Expression in Cryptorchidism

Panagidis Antonios , Kourea Helen , Sinopidis Xenophon , Kostopoulou Eirini , Rojas-Gil Andrea Paola , Skiadopoulos Spyridon , Georgiou George , Spiliotis Bessie E.

Objective: AMH causes fetal paramesonephric duct regression and is involved in testicular development and function. Sertoli cell AMH remains high during childhood until puberty. The appendix testis (AT), a remnant of the paramesonephric duct, contains both androgen and estrogen receptors. AT androgen receptors have been reported to play a role in embryonic testicular descent. The AT is commonly resected during orchiopexy and abdominal surgery as possible torsion in the future ...

hrp0082p2-d1-565 | Sex Development | ESPE2014

Novel NR5A1 Gene Mutations Associated with 46,XY Disorders of Sex Development

Fabbri Helena , de Andrade Juliana Gabriel Ribeiro , Maciel-Guerra Andrea Trevas , Guerra-Junior Gil , de Mello Maricilda Palandi

Background: Disorders of sex development (DSD) characterize incomplete or disorganized genital or gonadal development. One in 4500 births requires genetic and endocrine studies due to abnormal external genitalia or gonadal dysgenesis and only 50% of the cases receive a definitive diagnosis. There are several genes that participate in both sex determination and differentiation processes. Mutations in NR5A1 gene, which encoding SF1, a transcription factor, are responsib...

hrp0094p1-35 | Fat, Metabolism and Obesity A | ESPE2021

The possible association of the apoptotic marker APO1/Fas with predisposition to metabolic syndrome and mean platelet volume in children

Kostopoulou Eirini , Katsa Maria Efthymia , Magana Maria , Ioannidis Anastasios , Chatzipanagiotou Stylianos , Sachlas Athanasios , Spiliotis Bessie , Rojas Gil Andrea Paola ,

Objective: To investigate the possible relationship between APO1/Fas, components of metabolic syndrome and Mean Platelet Volume (MPV) in a healthy pediatric population.Study design: 185 children, aged 5-17 years old, were enrolled to the study. The participants were divided intο subgroups according to age and body mass index percentile (BMI%). APO1/Fas was measured by ELISA and MPV by the MEK-6410K.Re...

hrp0094p1-92 | Thyroid A | ESPE2021

Emotional Intelligence scores in children and adolescents with subclinical hypothyroidism - correlation with serum serotonin and thyroid stimulating hormone (TSH) concentrations.

Kostopoulou Eirini , Arianas George , Ioannidis Anastasios , Dimopoulos Ioannis , Chiotis Christos , Prezerakos Panagiotis , Spiliotis Bessie , Rojas Gil Andrea Paola ,

Introduction: Thyroxine is important for nervous system development. Subclinical hypothyroidism (SCH), a mild thyroid dysfunction, is associated with impaired cognitive function in children and mood disorders in adults. Serotonin is also involved in brain development, mood and behavior modulation. The possible interaction between thyroid function tests, serum serotonin concentrations and emotional intelligence, was studied.Method...

hrp0097p2-52 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Patient with ABCD syndrome (Abnormal Calcium, Calcinosis, Creatinine in Down syndrome), a rare cause of pediatric hypercalcemia

Lucia Feller Ana , Aziz Mariana , Gil Silvia , Quarracino Malena , Mendoza Lincolns , Paz Marcos , Vaiani Elisa , Ciaccio Marta , Viterbo Gisela

Introduction: ABCD syndrome is characterized by hypercalcemia, hypercalciuria, nephrocalcinosis, and renal impairment, generally under 4 years old. This is a rare cause of pediatric hypercalcemia with only 7 cases published, but it is believed to be underdiagnosed. The suspected mechanism would be associated with overexpression of transient receptor potential channels (TRP) that modulate intestinal absorption of calcium, since TRP-M2 is encoded on chromosome 2...

hrp0095p1-356 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Use of The Arginine-Stimulated Copeptin Test in Polyuric Syndrome in Paediatrics. Experience in Three Patients

Gonzalez-Llorens Nuria , Biagetti Biagetti Betina , Mogas Viñals Eduard , Puerto Carranza Elsa , Tomasini Rosangela , Campos Martorell Ariadna , Yeste Fernandez Diego , Clemente Leon Maria

Introduction: Differential diagnosis of partial central diabetes insipidus (PCDI) and primary polydipsia (PP) can be challenging. Copeptin is the C-terminal segment of the vasopressin precursor peptide that represents a novel and stable biomarker. Arginine infusion produces a nonosmotic stimulus that causes an increase in copeptin concentrations in healthy subjects. Arginine-stimulated copeptin concentrations have been used to differentiate between patients wi...

hrp0095lb12 | Late Breaking | ESPE2022

Sleep Quality in Caregivers of Type 1 Diabetes Mellitus Pediatric Patients - The Impact of isCGM Alarms

Sousa Eulália , Luís Telma , Cristina Santos Ana , Lima Conceição , Adriana Rangel Maria , Arménia Campos Rosa , Luísa Leite Ana

Background: Type 1 diabetes mellitus (T1DM) is one of the most frequent chronic diseases in the pediatric age and demands constant and rigorous glycemic control. Intermittently scanned continuous glucose monitoring (isCGM) systems are a helpful tool in diabetes management. Second-generation isCGM contain alarms to assist in the detection of hyper or hypoglycemia. We aimed to compare the sleep quality of principal caregivers of T1DM pediatric patients who use i...

hrp0095p2-220 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Pituitary Macroadenomas in Childhood and Adolescence. Clinical Analysis of 7 Cases

Aguilar-Riera Cristina , González Núria , Mogas Eduard , Campos Ariadna , Fàbergas Anna , Vázquez Elida , Clemente María , Yeste Diego

Introduction: Pituitary adenomas (PPAs) are uncommon in childhood and adolescence, accounting for 2-6% of all intracranial neoplasms. Most data are based on case reports and only a few series have been reported. Delayed puberty, short stature, galactorrhea and weight gain are common features at presentation in pediatric patients. Functional tumors constitute a vast majority (90%) of PPAs including corticotropinomas in the first decade followed by relative upsu...

hrp0092p2-145 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Neonatal Hypo-ketotic Hypoglycemia Secondary to Transient Hyperinsulinism. Diazoxide Responsiveness and Experience with Fasting Test after Treatment Withdrawal

Salamanca Luis , Itza Nerea , Mora Cristina , Dominguez Jesús , de Pipaón Miguel Sáez , Campos Angel , González Isabel

Introduction: Transient hyperinsulinism is described in neonates with stress factors (intrauterine growth restriction (IUGR), large for gestational age (LGA), perinatal asphyxia, infants of diabetic mother etc.). Recognition and early treatment is prioritary to avoid neurological morbidity related with recurrent hypoglycemia.Objective: Describe the incidence of transient hyperinsulinism. Clinical charac...

hrp0082p3-d1-882 | Perinatal and Neonatal Endocrinology | ESPE2014

Project Episga: PreMeb Presentation, Subject Recruitment, and Initial Data

Diez-Lopez Ignacio , Sarasua-Miranda Ainhoa , Hoyo-Moracho Marta , Lorente-Blazquez Isabel , Lorente Raquel Gomez de Segura , Campos Dorleta Perez , Rodriguez-Rivera Victor Manuel , Macarulla-Arenaza Maria Teresa

Background: Up to 50% SGA did not do a proper catch up (for over/under) and may have implications in size, metabolic, cardiovascular. Arises: epiSGA – PreMeb Project. Global approach to study.Objective: Create clinical cohort of SGA for monitoring, assessment catch-up, use GHRH requirements, environmental/social factors and variables influence on clinical, laboratory and metabolic profiles in order to progress in the knowledge of natural history. Pr...