hrp0097p2-246 | Late Breaking | ESPE2023

Results from a Multi-Stakeholder Meeting on Medical Devices in Paediatric Type I Diabetes

Biester Torben , Reschke Felix , Danne Thomas , Julien Marc , Lusar Irja , Cheng Katharine , Cavaller-Bellaubi Maria , Katz Michelle , Niemoeller Elisabeth , Renard Eric , Sturny Maren , Geertsma Robert , Vassal Gilles

Objectives: To discuss all challenges involved with providing children (including the very young) and adolescents with diabetes (CwD) with the latest appropriate technology, such as automated insulin delivery systems (AIDs), to manage their blood glucose and help improve their quality of life and suggest ways in which access to new types of devices available to adults can be improved for children with T1D.Methods: In con...

hrp0098rfc5.2 | Growth and Syndromes | ESPE2024

The development and validation of Bone age-guided Interpretation of Growth (BIG), a web-based tool for the guidance of evaluation of children and adolescents with growth disorders.

Yadav Vibha , Mahapatra Alapan , Raithatha Dhvani , Bajpai Anurag

Background: The lack of systematic evaluation of growth disorders results in unnecessary workup for physiological causes while missing pathological causes. We have developed Bone-age assisted interpretation of growth (BIG), a web-based tool that provides guidance for diagnosis and management for children and adolescents with growth concerns.Aim: To develop and validate BIG in growth disorders.<stro...

hrp0092p1-129 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Molecular Diagnosis of Patients with 46,XY Differences in Sex Development in A Single Tertiary Center

Touzon Maria Sol , garrido Natalia Perez , Ramirez Pablo , Marino Roxana , Berensztein Esperanza , Costanzo Mariana , Guercio Gabriela , Rivarola Marco Aurelio , Belgorosky Alicia

Disorders/differences in sex development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. 46,XY DSD include defects in androgen synthesis or action or complete (CGD)/partial (PGD) gonadal dysgenesis. The aim of this study was to characterize the molecular genetic diagnosis of individuals with 46,XY DSD followed at Garrahan Pediatric Hospital.Medical records of 140 patients (P) followed...

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...

hrp0086p1-p368 | Gonads &amp; DSD P1 | ESPE2016

Precocious/Early and Accelerated Puberty in a Boy with a Homozygous R192C Mutation in CYP19 (Aromatase) Gene

Costanzo Mariana , Guercio Gabriela , Garcia-Feyling Jose , Saraco Nora , Marino Roxana , Perez Garrido Natalia , Manuel Lazzati Juan , Maceiras Mercedes , Aurelio Rivarola Marco , Belgorosky Alicia

Background: Aromatase deficiency is a rare autosomal recessive disorder produced by CYP19 gene mutations. 46XX affected patients presented with ambiguous genitalia leading to early identification. Most 46XY affected patients presented normal external genitalia and the condition often remains undiagnosed until late puberty. Information on pubertal development in affected boys is scarce since to the present date only two patients, younger than 4 years of age, without lo...

hrp0084p2-319 | DSD | ESPE2015

Gonadotropin Surge During the Early Postnatal Activation Period in 46,XX Testicular/Ovotesticular Disorder of Sex Development Patients

Costanzo Mariana , Guercio Gabriela , Marino Roxana , Ramirez Pablo , Garrido Natalia Perez , Vaiani Elisa , Berensztein Esperanza , Lazzati Juan Manuel , Maceiras Mercedes , Rivarola Marco A , Belgorosky Alicia

Background: During the 1st months of postnatal life serum luteinizing hormone (LH) levels in girls are lower than in boys. The mechanism of this sex difference is not known. It has been proposed that foetal or perinatal androgenic steroids have an effect on the control of LH secretion.Objective and hypotheses: To study the possible influence of high levels of androgens on serum gonadotropins during the 1st months of life in a cohort of nine 46,XX testicu...

hrp0086p1-p807 | Syndromes: Mechanisms and Management P1 | ESPE2016

Auxological Features in Patients with Juvenile Idiopathic Arthritis Treated with Biologic Therapy Preliminary Study Data

Marino Achille , Cimaz Rolando , Giani Teresa , Simonini Gabriele , Stagi Stefano

Background: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of diseases associated with an increase of inflammatory cytokines that may to influence child growth. However this is already known, to date auxological data published of JIA patients during biologic treatment are incomplete and very heterogeneous.Objective and hypotheses: To evaluate the auxological features in a selected cohort of patients with JIA treated with biologic drugs....

hrp0098p1-216 | Bone, Growth Plate and Mineral Metabolism 3 | ESPE2024

Characterization of a large cohort of 99 argentinian patients with hereditary hypophosphatemic rickets (HHR) followed in a single pediatric tertiary center

Viterbo Gisela , Del Pino Mariana , Aziz Mariana , Abbate Silvina , Perez Garrido Natalia , Ramirez Pablo , Saraco Nora , Tesan Fiorella , Ciaccio Marta , Gabriela Obregón María , Fano Virginia , Belgorosky Alicia , Marino Roxana

Background: Hereditary hypophosphatemic rickets (HHR) comprises a group of rare disorders characterized by renal phosphate wasting and impaired vitamin D metabolism. Numerous genetic defects can underlie this condition, with the X-linked dominant form (XLHR) being the most prevalent (1 in 20,000 individuals) resulting from inactivating variants in the PHEX gene.Aim: To characterize a large cohort of 99 argentini...

hrp0095p1-154 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Reference values in pelvic ultrasonography for a Spanish population of healthy girls between 6 and 12 years old

Corripio Raquel , Villalobos Marisa , Patricia Beltrán-Salazar Viviana , Pérez Jacobo , Duran Carmina

Background: Pelvic ultrasonography (PUS) of the uterus and ovaries allows the diagnosis of changes in sexual development. However, the reference values used in Spain originate from old studies conducted in other countries.Objective: To determine reference uterine and ovarian measurements by PUS and according to pubertal status and bone age in a Spanish population of healthy girls aged between 6 and 12 years.<p class=...

hrp0092p1-68 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Growth and Cognition at Peri-Pubertal Age in Preterm Infants Very Low Birth Weight: The Role of Extrauterine Growth Restriction (EUGR)

Lucaccioni Laura , Malmusi Giovanni , Talucci Giovanna , Pugliese Marisa , Arrigoni Marta , Spada Caterina , Ferrari Fabrizio , Iughetti Lorenzo

Background: Preterm infants born VLBW can display auxological impairment and long term cognitive disabilities. These outcomes are influenced by the condition of being small for gestational age (SGA), but also by the extra-uterine growth restriction (EUGR). Aim of the study was to detect the influence of gestational age(GA), perinatal growth trend and enteral nutrition during the hospitalization on cognitive and auxological outcomes at peri-pubertal age (PPA).<...