hrp0084p2-562 | Thyroid | ESPE2015

Thyroid Dysfunction is Associated with Biochemical Markers of Non Alcoholic Fatty Liver Disease in Paediatric Population

Loureiro Carolina , Martinez Alejandro , Campino Carmen , Correa Paulina , Mendoza Carolina , Carrillo Diego , Aglony Marlene , Bancalari Rodrigo , Carvajal Cristian , Fardella Carlos , Garcia Hernan , Grob Francisca

Background: Thyroid dysfunction is a common condition in children and has been associated with metabolic syndrome, hypertension, cardiovascular disease and mortality. Due to the obesity epidemic in paediatric population exists a higher prevalence of nonalcoholic fatty liver disease (NAFLD), a condition associated with insulin resistance and metabolic syndrome. In adults it has been observed that elevated TSH, even within the normal range, are positively correlated with increas...

hrp0084p3-606 | Adrenals | ESPE2015

Familial Hyperaldosteronism Type 1 in an Infant without Hypertension: How Important Could be the Early Treatment with Hydrocortisone?

Martinez-Aguayo Alejandro , Mendoza Carolina , Loureiro Carolina , Campino Carmen , Carvajal Cristian , Baudrand Rene , Rumie Hana , Bancalari Rodrigo , Garcia Hernan , Vecchiola Andrea , Valdivia Carolina , Fardella Carlos

Background: Familial hyperaldosteronism type 1 (FH-1), is caused by the presence of a chimeric CYP11B1/CYP11B2 gene that produces high amounts of aldosterone in response to ACTH and severe hypertension. An early diagnosis and treatment are important, not only to manage hypertension but also to avoid possible deleterious effects of aldosterone on the endothelium and cardiovascular diseases.Clinical case: A 3 months old boy was referred for evalua...

hrp0084p3-662 | Bone | ESPE2015

Seasonal Differences in Plasma 25-OH Vitamin D Concentrations in Cord Blood

Gomez Sandra Ortigosa , Varo Cristina Manzano , Algar Oscar Garcia , Sierra Antonio Mur , Costa Roser Ferrer , Lezcano Antonio Carrascosa , Fernandez Diego Yeste

Background: 25-OH vitamin D levels in newborns depend directly on their mother’s status. In a previous study, 25-OH vitamin D levels were determined in cord blood in a cohort of women after winter months, showing deficient values in 94% of population (mean 25-OH vitamin D value 10.4±6.1 ng/ml). Correlation between low 25-OH vitamin D levels and low sun exposure, dark skin phototype and Indo-Pakistani ethnicity were observed.Objective and hypoth...

hrp0084p3-873 | Fat | ESPE2015

Sex Differences in the Pubertal Response to High-Fat Diet

Freire-Regatillo Alejandra , Argente-ARizon Pilar , Diaz Francisca , Barrios Vicente , Arevalo Angeles , Argente Jesus , Garcia-Segura Luis Miguel , Azcoitia Inigo , Chowen Julie A

Background: It is well known that ingestion of a high fat diet (HFD) can induce rapid weight gain and metabolic imbalances. However, males and females are not equally susceptible to these effects. Furthermore, an individual may be more prone to gain weight during specific developmental periods.Aims and objectives: We aimed to analyse the response to the acute exposure to a HFD during pubertal/adolescent period and to determine whether males and females r...

hrp0084p3-1039 | Growth | ESPE2015

Sotos Syndrome: Why is Better an Early Diagnosis?

Solis Maria Magdalena Hawkins , Gomez Maria Royo , de Alvare Ana Dolores Alcalde , Yebra Julia Yebra , Pose Araceli Garcia , Diaz Alfonso Canete

Background: Sotos syndrome is characterized by overgrowth. The four mayor criteria for diagnosis are: overgrowth (accelerated bone age), macrocephaly, characteristic facial features and developmental delay. They can also present escoliosis, heart or genitourinary disease, seizures, hypotonia, cerebral malformations, feeding difficulties, hearing loss and a greater risk of tumours.Case report: A 10 months old girl was referred for overgrowth. BW and BL wa...

hrp0094p1-124 | Growth A | ESPE2021

Management of endocrine aspects of Noonan syndrome across Europe: A subanalysis of a European clinical practice survey

Edouard Thomas , Zenker Martin , Ostman-Smith Ingegerd , Ortega Castello Eduardo , Wolf Cordula , Burkitt-Wright Emma , Verloes Alain , Garcia-Minaur Sixto , Tartaglia Marco , Shaikh Guftar , Lebl Jan ,

Aim: There is a current lack of international guidelines for managing the endocrine aspects of Noonan syndrome (NS). A clinical practice survey was developed to identify knowledge gaps and differences in the management of patients with NS across Europe.Materials and Methods: A 60-question clinical practice survey was developed for clinical geneticists, paediatric endocrinologists and paediatric cardiologists directly involved in treating...

hrp0097p2-131 | Diabetes and Insulin | ESPE2023

Ketoacidosis in the newborn as a presentation of IPEX Syndrome

Pino Consuelo , Pizarro Hugo , Contreras Andy , Karime Rumie Hana , Godoy Claudia , Grob Francisca , Naranjo Carolina , Lacourt Patricia , Bassaure Javiera , Mayol Cristina , Garcia Angelica , Postigo Javiera , Jara Mirta

Introduction: IPEX syndrome is a syndrome characterized by the following triad: immune dysregulation, polyendocrinopathy and X-linked enteropathy. It is produced by a variant in the FOXP3 gene. It is a rare disease with poor prognosis.Clinical case: We are reporting the case of a boy, 2nd child of non-consanguineous parents, normal pregnancy. Born at 39 weeks of gestational age, birth weight 2985 grams and length 49 cent...

hrp0097p2-154 | Multisystem Endocrine Disorders | ESPE2023

Hypoglycemia in a 9-month-old infant due to hyperinsulinism by ABCC8 variant

Pino Consuelo , Pizarro Hugo , Contreras Andy , Mayol Cristina , Karime Rumie Hana , Lacourt Patricia , Bassaure Javiera , Garcia Angelica , Postigo Javiera , Jara Mirta

Introduction: Hypoglycemia due to Congenital hyperinsulinism is a phenotypically heterogeneous disease. Depending on the cause it is most frequently seen in the neonatal period but it can present later in life, with risk of neurological complications in the event of late diagnoses.Clinical Case: Patient with a normal perinatal history, born at 40 weeks, weight 3600 grams and 50.5 centimeters of length. Because caf&eacute...

hrp0097p2-105 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Self-perception of voice in trans girls adolescents depends on pubertal stage blockage.

Domínguez-Riscart Jesus , Larran-Escandon Laura , Baez-Castillo Celia , Triviño-Garcia Adrian , Mateo-Gavira Isabel , De Mier-Morales Miguel

Introduction: A transgender individual’s voice may contribute to the negative psychosocial outcomes. Some studies have shown that an incongruence between one’s voice and internal gender identity can be a potential source of ongoing psychological distress and could impact on their social interactions, employment outcomes, and invite verbal or physical harassment. This study was aimed to examine whether early puberal blockage (PB) impacts on self per...

hrp0098p1-89 | Sex Endocrinology and Gonads 1 | ESPE2024

Organokines and liver enzymes in adolescent girls with polycystic ovary syndrome during randomized treatments

Garcia-Beltran Cristina , Peyrou Marion , Navarro-Gascon Artur , López-Bermejo Abel , de Zegher Francis , Villarroya Francesc , Ibáñez Lourdes

Introduction: Polycystic ovary syndrome (PCOS) is often related to metabolic associated fatty liver disease (MAFLD). MAFLD has been associated with altered hepatic function and systemic dysmetabolism and with abnormal circulating levels of signaling molecules, so-called organokines. Here, we assessed the effects of two randomized treatments on a set of organokines in adolescent girls with PCOS and without obesity, and report the associations with circulating b...