hrp0089p1-p229 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Prevalence of Hypogonadism in Prepubertal Boys with Cryptrochdism

Grinspon Romina P , Bedecarras Patricia , Gottlieb Silvia , Rey Rodolfo A

Introduction: Cryptorchidism has usually been managed using a surgical approach, with little attention to the underlying pathophysiology.Objectives: To assess gonadal function before treatment in prepubertal boys with cryptorchidism.Methods: In a cross-sectional study we reviewed all clinical charts of patients encoded with the diagnosis of cryptorchidism in the database of a paediatric tertiary hospital, between 2000 and 2017. Inc...

hrp0086lbp1 | (1) | ESPE2016

46,XY DSD due to Isolated AMH Deficiency Resulting in Persistent Müllerian Duct Syndrome (PMDS) as a Consequence of a Single-Base Deletion in a SF1-Response Element of the AMH promoter

Valeri Clara , di Clemente Nathalie , Marshall Ian , Schteingart Helena , Josso Nathalie , Rey Rodolfo , Picard Jean-Yves

Background: Isolated persistence of Müllerian ducts in an otherwise normally virilised 46,XY newborn, a condition known as PMDS, is a disorder of sex development (DSD) due to a defect limited to AMH-dependent Müllerian duct regression.Objective and hypothesis: We report the case of a patient with PMDS and extremely low serum AMH in whom no mutations were detected in the AMH gene coding sequences. A single base deletion identified in th...

hrp0084p2-480 | Growth | ESPE2015

In Vitro Functional Characterization Of IGFALS Gene Variants Found In ALS Deficient or Idiopathic Short Stature (ISS) Children

Martucci Lucia , Scaglia Paula , Karabatas Liliana , Rey Rodolfo , Domene Horacio , Domene Sabina , Jasper Hector

Background: ALS deficient (ALS-D) patients present severe IGFI and IGFBP3 deficiencies and variable degree of growth retardation. Heterozygous carriers for IGFALS variants, ALS-D relatives or a subset of ISS children, have levels of IGFI, IGFBP3 and ALS intermediate between ALS-D and wildtype (WT) subjects. This supports that IGFALS gene variants may affect ALS synthesis, secretion and/or function and could be responsible for the observed phenotype.<p cla...

hrp0095p1-214 | Adrenals and HPA Axis | ESPE2022

Development and validation of simultaneous quantification of urinary catecholamines and free metanephrines by UHPLC-MS/MS method

Eugenia Rodriguez Maria , Gabriela Ballerini Maria , Ambao Veronica , Vieites Ana , Sanso Gabriela , Rey Rodolfo , Bergada Ignacio , Gabriela Ropelato Maria

Background: Neuroendocrine tumors from adrenal and extra-adrenal chromaffin cells are characterized by overproduction of catecholamines (CA), leading to the increase of urinary O-methylated metabolites (uO-Met) excretion, reliable biomarkers for the initial screening, diagnosis and monitoring of patients with pheochromocytoma and paragangliomas (PPGLs).Objective: To develop and validate a UHPLC-MS/MS method for the simul...

hrp0086p1-p344 | Gonads &amp; DSD P1 | ESPE2016

Sertoli Cell Function During Chemotherapy in Pediatric Patients with Acute Lymphoblastic Leukemia

Grinspon Romina P. , Arozarena de Gamboa Maria , Prada Silvina , Gutierrez Marcela E. , Bedecarras Patricia , Aversa Luis , Rey Rodolfo A.

Background: Most reports on gonadotoxicity associated with chemotherapy of acute lymphoblastic leukemia (ALL) comes from studies in adults, and they are mainly focused on the sensitivity of testicular germ cells. Little attention has been placed on Sertoli cells in prepubertal patients, even though Sertoli cell function is essential for adult spermatogenesis.Objective: To evaluate Sertoli cell function in prepubertal boys who receive chemotherapy for ALL...

hrp0084p1-66 | DSD | ESPE2015

46, XX Ovotesticular DSD in the Absence of SRY Gene Associated to SOX3 Duplication

Grinspon Romina P , Nevado Julian , Alvarez Maria de los Angeles Mori , Rey Rodolfo A , del Rey Graciela , Chiesa Ana

Background: Ovotesticular DSD is a rare disorder defined by the presence of both ovarian and testicular tissues in the same individual. SRY is present in approximately 1/3 of patients with 46, XX ovotesticular DSD. In SRY-negative ovotesticular DSD, the mechanism responsible for the presence of testicular tissue is not yet understood.Case presentation: A male patient was referred to us for hypospadias and bilateral cryptorchidism at 2.5...

hrp0095p2-163 | Growth and Syndromes | ESPE2022

Beckwith-Wiedemann Syndrome: Two Familial Cases with CDKN1C gene variants

Freire Analía , Braslavsky Débora , Scaglia Paula , Esnaola Azcoiti María , Armando Romina , Rothenfusser Anna , Casali Bárbara , Arberas Claudia , Rey Rodolfo , Gabriela Ropelato María , Bergadá Ignacio

Introducción: Beckwith-Wiedemann syndrome (BWS) is a congenital disorder that includes features such as overgrowth, macroglossia, abdominal wall defects, neonatal hyperinsulinism, lateralized overgrowth and predisposition to embryonal tumors during infancy. BWS may be clinically diagnosed by a scoring system and genetic diagnosis is mainly focused to imprinting disorders on the 11p15.5 region. The presence of pathogenic inactivating variants on the mate...

hrp0095rfc6.4 | Sex Development and Gonads | ESPE2022

Sertoli cell dysfunction at diagnosis in children with haematological malignancies

Lopez Dacal Jimena , Prada Silvina , Gabriela Ropelato Maria , Gabriela Ballerini Maria , Eugenia Rodriguez Maria , E. Gutierrez Marcela , Soria Marcela , Morán Lorena , Ferraro Cristina , Bedecarrás Patricia , Drelichman Guillermo , Aversa Luis , Bergadá Ignacio , A. Rey Rodolfo , P. Grinspon Romina

Aim: To determine Sertoli cell function at diagnosis and after 3 months of chemotherapy.Methods: A prospective cohort study was performed including children with acute lymphoblastic leukaemia, acute myeloid leukaemia, or non-Hodgkin lymphoma. Serum levels of AMH were evaluated at diagnosis and after 3 months during chemotherapy. Results were analysed as standard deviation scores according to pubertal stage and expressed ...

hrp0092lb-7 | Late Breaking Posters | ESPE2019

Long-Term Evaluation of Ovarian Function and Follicular Reserve in Patients with Malignant Diseases Treated with Chemotherapy in Prepubertal or Pubertal Age

Josefina Arcari Andrea , Verónica Freire Analía , Paula Grinspon Romina , Bedecarrás Patricia , Eugenia Escobar María , Gabriela Ropelato María , Bergadá Ignacio , Rey Rodolfo , Graciela Gryngarten Mirta

The survival rate of young patients with cancer has greatly improved in the last decades, in part due to the introduction of new therapeutic agents and protocols.Chemotherapy may be associated with risk of ovarian dysfunction, permanent or transient amenorrhea, symptoms of ovarian insufficiency and infertility.It has been suggested that prepubertal ovary is less susceptible to deleterious effect of chemotherapy.<p class="abstex...

hrp0089p1-p036 | Bone, Growth Plate &amp; Mineral Metabolism P1 | ESPE2018

Novel LRP5 Loss-of-function Mutation Causes Osteoporosis-pseudoglioma Syndrome

Braslavsky Debora , Scaglia Paula , Sanguineti Nora , Cassinelli Hamilton , Ruiz Schenstrom Olivia , Armando Romina , Arberas Claudia , Aza-Carmona Miriam , Nevado-Blanco Julian , Daniel Lapunzina-Badia Pablo , Heath Karen E , Rey Rodolfo , Bergada Ignacio

Background: Osteoporosis is a complex disorder, influenced by both environmental and genetic factors. Primary osteoporosis is a rare early onset disorder with high morbidity and mortality. Wnt signaling pathway has been shown to be involved in the regulation of bone remodeling.Case: Native Argentinean boy born from a consanguineous family with history of retinal detachment in the maternal line. Delivered at term, birth weight 2900 g (−0.95 SDS), bi...