hrp0092p2-259 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Differences of Sex Development with Chromosomal Mosaicism: Histological Characterization and Immunohistochemistry Markers in Gonads During Childhood

Touzon Maria Sol , Galluzzo Mutti Maria laura , Ramirez Pablo , Perez Garrido Natalia , Marino Roxana , Bailez Marcela , Costanzo Mariana , Guercio Gabriela , Rivarola Marco Aurelio , Belgorosky Alicia , Berensztein Esperanza

Sex chromosome disorders, including sex chromosome mosaicism, result in a large clinical spectrum. There is scarce information about the histological pattern of these gonads.Aim: to characterize the histology and cell markers pattern in gonads of patients with chromosomal mosaicism.Gonadal biopsies from thirteen patients with chromosomal mosaicism, including chromosome Y were studied. Six were rearing as male and s...

hrp0086fc7.1 | Gonads & DSD | ESPE2016

Early Loss of Germ Cells in Testis of Androgen Insensitivity Syndrome Patients

Aliberti Paula , Marino Roxana , Ramirez Pablo , Garrido Natalia Perez , Solari Alberto J. , Sciurano Roberta , Ponzio Roberto , Costanzo Mariana , Guercio Gabriela , Warman Diana M. , Mutti Maria L. Galluzzo , Lubieniecki Fabiana , Bailez Marcela , Rivarola Marco A. , Belgorosky Alicia , Berensztein Esperanza B.

Background: In Androgen insensitivity syndrome (AIS) is a hereditary disease in which AR mutations in 46,XY patients present with partial (PAIS) or complete (CAIS) defects in virilisation.Objective and hypotheses: The aim was to analyze the effect of lack of androgen action in germ cell (GC) health and survival along postnatal development, previous to Sertoli cell (SC) pubertal maturation.Method: The histological features and quant...

hrp0089p2-p345 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Histopathologic Characterization of Patients with 46,XX Testicular and Ovotesticular Disorders of Sex Development

Touzon Maria Sol , Mutti Maria Laura Galluzzo , Ramirez Pablo , Garrido Natalia Perez , Marino Roxana , Bailez Marcela , Costanzo Mariana , Guercio Gabriela , Vaiani Elisa , Ciaccio Marta , Rivarola Marco Aurelio , Belgorosky Alicia , Berensztein Esperanza

Disorders of sex development (DSD) are those congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. The aim of this study was to characterize the histology of 46,XX DSD prepubertal gonads. We studied 25 gonads of fourteen 46,XX DSD patients. The age of biopsy/gonadectomy was 1.17 (0.08–4.17) years (median and range). Molecular studies confirmed the absence of SRY by PCR and/or MLPA in blood samples of all patients and i...

hrp0082fc6.4 | Gonads & DSD | ESPE2014

Familial 46,XY Complete Female External Sex Development and Primary Amenorrhea Along with Hidden Gonad Tumors, Secondary to a Novel p.met64val SRY Gene Mutation

Vaiani Elisa , Malosetti Carmen , Marino Roxana , Ramirez Pablo , Garrido Natalia Perez , Berensztain Esperanza , Col Florencia Da , Bailez Marcela , Sala Josefina , Galluzzo Laura , Maceiras Mercedes , Lazzati Juan Manuel , Rivarola Marco , Belgorosky Alicia

Background: The SRY protein is a transcription factor that contains a high mobility group (HMG) homeobox domain which possesses sequence-specific DNA binding activity and regulates other genes involved in male sex determination pathway. The majority of the identified mutations occurred within the HMG-box motif. There are few reports of pedigrees with familial transmission.Objective and Hypotheses: To describe a paternally transmitted novel SRY mutation w...

hrp0094p2-163 | Diabetes and insulin | ESPE2021

Mauriac syndrome: a complication that still exists in children with type 1 diabetes. Report of a case.

Jimenez Catalina , Molina Marcela , Garcia Hernan ,

Background: Mauriac Syndrome (MS) is currently an extremely rare complication in type 1 diabetes mellitus (DM1). It is characterized by the triad: poor metabolic control, dwarfism and hepatomegaly. Other findings are elevated transaminases, dyslipidemia, cushingoid features and delayed puberty.Case: Male patient with DM1 since 5 years age. Coinciding with a family breakdown, from the age of 7 his metabolic control deteriorated significan...

hrp0086p2-p502 | Fat Metabolism and Obesity P2 | ESPE2016

Metabolic Syndrome in Prepubertal Obese Children: Inclusion of the Triglyceride/Hdl Ratio as an Alternative Diagnostic Criterion

Boquete Carla , Jesica Baran , Yuseff Fernanda Alvarez , Suarez Martha , Fideleff Gabriel , Azaretzky Miriam , Aranguren Marcela , Fusero Mariela , Ruibal Gabriela , Fideleff Hugo , Boquete Hugo

Background: Although a large number of publications show a high prevalence of Metabolic Syndrome (MS) during childhood, to date, there is no uniform definition for evaluating this condition in children and adolescents. In the pediatric population, there are difficulties for characterizing this condition and the various criteria used might lead to underdiagnosis. In recent years, the triglycerides/HDL (TG/HDL) ratio has been proposed as a new marker.Objec...

hrp0089fc4.2 | GH & IGFs | ESPE2018

Effects of IGF-1R Nuclear Localization in Glioblastoma Cells

Martin Ayelen , Clement Florencia , Venara Marcela , Bergada Ignacio , Gutierrez Mariana , Pennisi Patricia

Background: CNS tumors are the most frequent solid tumors in pediatric population. The IGF system of ligands and receptors are known to play an important role in both normal and neoplastic growth. Recently, we have shown that in paediatric gliomas, IGF-1R nuclear localization was significantly associated with both high grade tumours and increased risk of death, suggesting that nuclear IGF-1R localization may contribute to an aggressive behaviour of these tumours.<p class="...

hrp0086p1-p616 | Growth P1 | ESPE2016

Serum IGF-I, IGFBP-3 and Als Concentrations and Physical Performance in Young Swimers During a Training Season

Filho Hugo Tourinho , Pires Marcela , Puggia E F , Papoti M , Barbieri R , Martinelli Jr Carlos

Background: Exercise programs are related to the anabolic function of GH/IGF-I axis.Objective and hypotheses: To analyse IGF-I, IGFBP-3 and ALS serum concentrations in adolescent swimmers at different stages of training season, and compare them with physical performance and body composition.Method: Nine male athletes, aged 16–19 years, who trained regularly throughout the season, were studied. IGF-I, IGFBP-3 and ALS were recor...

hrp0094p1-144 | Sex Endocrinology and Gonads B | ESPE2021

Ovarian AMH production is transiently affected in pubertal and prepubertal girls with acute lymphoblastic leukaemia and non-Hodgkin lymphoma receiving chemotherapy: a prospective, longitudinal study.

Lopez Dacal Jimena C. , Prada Silvina , Gutierrez Marcela E. , Bedecarras Patricia , Ropelato M. Gabriela , Arcari Andrea , Ballerini M. Gabriela , Gryngarten Mirta , Soria Marcela , Moran Lorena , Ferraro Cristina , Freire Analia , Bergada Ignacio , Drelichman Guillermo , Aversa Luis , Rey Rodolfo A. , Grinspon Romina P. ,

Introduction: Improvements in the treatment of acute lymphoblastic leukaemia (ALL) and non-Hodgkin lymphoma (NHL) have increased survival, with the consequent concern about the long-term effects that childhood chemotherapy may have on ovarian function. AMH constitutes an indirect, reliable biomarker of the ovarian reserve, useful for the assessment of cancer therapy-related ovarian damage.Aim: To evaluate small ovarian f...

hrp0089p2-p160 | Fat, Metabolism and Obesity P2 | ESPE2018

Obesogenic Environment and Their Influence on Adiposity on Mexican Children and Adolescents

Lopez-Gonzalez Desiree , Wells Jonathan , Reyes-Delpech Pamela , Avila-Rosano Fatima , Ortiz-Obregon Marcela , Gomez-Mendoza Frida , Clark Patricia

Introduction: Obesity is the main public health problem in Mexico. Several factors have been described as explanations, mainly: increased sedentarism and caloric intake. Such environment has been described as “obesogenic”. The aim of this study was to describe the relationship between the components of such obesogenic environment and the adiposity of Mexican children and adolescents.Methods: We carried a population-based cross-sectional study o...