hrp0098p1-219 | Bone, Growth Plate and Mineral Metabolism 3 | ESPE2024

Prospective longitudinal assessment of bone mineral density, circulating markers of bone turnover and changes in body composition in children and adolescents treated for acute lymphoblastic leukemia

Molinari Silvia , Laura Nicolosi Maria , Capitoli Giulia , Tondelli Daniele , Corbetta Sabrina , Vai Silvia , Radaelli Silvia , Biondi Andrea , Adriana Cristina Balduzzi , Sala Alessandra , Cattoni Alessandro

Background: Acute lymphoblastic leukemia (ALL) is the most frequently reported cancer in paediatrics. Reduced bone mineral density (BMD) and increased risk of fractures have been well-documented in this population, but long-term longitudinal trendlines of BMD and data about the impact of bone turnover markers are still scarce. Additionally, changes in body composition have to be furtherly analysed among childhood ALL survivors.St...

hrp0098p3-179 | Growth and Syndromes | ESPE2024

Brazilian children with severe short stature and Batter syndrome type 3: a case series

Malaquias Alexsandra , Novaes Andrea , Augusto Jorge Alexander , de Andrade Nathalia , Avelino Vivian , Ayonan Marcella , Jose Sousa Randerson , Nascimento Daniel , Nishikawa Yuka , Izabel Gonçalves Maria

Brief summary: This case series of three patients with Bartter syndrome (BS) type 3 treated in Sao Paulo and Santarem, Brazil is presented to highlight the difficulties of clinical management and diagnosis. BS is an inherited disorder characterized by impaired sodium chloride reabsorption in the cortical and medullary thick ascending limbs of the loop of Henle and secondary hypokalemic alkalosis. In Brazil, genetic testing for this disease is not common. Howev...

hrp0098p1-176 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

Pelvic ultrasound and pubertal attainment in girls with sexual precocity: the pivotal role of uterine volume in predicting the timing of menarche

Cattoni Alessandro , Russo Gianni , Capitoli Giulia , Rodari Giulia , Laura Nicolosi Maria , Molinari Silvia , Tondelli Daniele , Pelliccia Ciretta , Radaelli Silvia , Arosio Andrea , Fondata Katia , Tattesi Giulia , Passoni Paolo , Boneschi Annalisa , Giavoli Claudi , Laura Carla Meroni Silvia , Rita Stancampiano Marianna , Garuti Elda , Biondi Andrea , Balduzzi Adriana , Bizzarri Carla

Introduction: Among girls assessed for pubertal precocity, pelvic ultrasound (pUS) may represent a pivotal tool to predict the time expected to elapse between sonographic assessment and the onset of menarche (TUS-M). Accordingly, the present analysis is meant to define the statistical relationship between sonographic parameters and TUS-M, in order to identify the most reliable predictor of the timing of menarche.<st...

hrp0095p1-93 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Measurements of Growth Hormone in neonatal screening cards as a non-invasive and feasible tool: reference values in healthy term newborns.

Giacchetti Federico , Vidali Matteo , Sangiorgio Andrea , Rodari Giulia , Vantaggiato Chiara , Modugno Adriana Di , Morniroli Daniela , Colombo Lorenzo , Profka Eriselda , Dall'Antonia Alberta , Collini Valentina , Ceriotti Ferruccio , Mosca Fabio , Arosio Maura , Lorella Giannì Maria , Giavoli Claudia

Background: Severe congenital growth hormone deficiency (cGHD) is a rare but potentially life-threatening condition. Even though random growth hormone (GH) can confirm cGHD during the first week of life, the diagnosis remains extremely challenging in the absence of reliable reference values in healthy neonates and thus of a best diagnostic cut-off.Aims: First, to provide solid reference values for GH concentrations in te...

hrp0095p1-136 | Multisystem Endocrine Disorders | ESPE2022

Time Taken to Reach a Diagnosis In Children With XY DSD In Expert Endocrine Centres In Europe

Ali Salma , Bryce Jillian , Hiort Olaf , Verrijn Stuart Annemarie , Cools Martine , Luczay Andrea , De Sanctis Luisa , Baronio Federico , Navardauskaite Ruta , Claahsen-van der Grinten Hedi , Yeste Diego , Gan Hoong-Wei , Persani Luca , Capalbo Donatello , Nordenstrom Anna , Faisal Ahmed S.

Background: Reaching a definitive diagnosis in individuals with XY DSD is challenging and the time taken to reach a diagnosis is an important clinical benchmark that has not been sufficiently explored in this group of conditions.Objective: To evaluate the diagnostic process with a focus on the time to diagnosis in children with XY DSD reported via the e-reporting platform (e-REC) of the European Registries for Rare Endoc...

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...

hrp0089rfc7.6 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

Assessment of Pituitary Stalk Anatomy by T2 DRIVE without Gadolinium in Pituitary Diseases

Napoli Flavia , Godano Elisabetta , Morana Giovanni , Di Iorgi Natascia , Pistorio Angela , Allegri Anna Elsa Maria , Gastaldi Roberto , Calcagno Annalisa , Patti Giuseppa , Gallizia Annalisa , Notarnicola Sara , Giaccardi Marta , Noli Serena , Severino Mariasavina , Tortora Domenico , Rossi Andrea , Maghnie Mohamad

Objectives: To evaluate the potential diagnostic role and sensitivity of T2-weighted DRIVE sequence in pituitary stalk (PS) identification and measurements in patients with hypothalamic-pituitary disorders. The degree of agreement and reliability between standard pre- and post-contrast T1-weighted images and T2-DRIVE will be tested in a large group of patients with pituitary dysfunction.Design: We searched for pituitary MRI reports using ‘T2-DRIVE&#...

hrp0086p1-p1 | Adrenal P1 | ESPE2016

Leptin is Associated with Serum Aldosterone in Paediatric Subjects, Independently of Body Mass Index, Blood Pressure and Plasma Renin Activity

Martinez-Aguayo Alejandro , Campino Carmen , Baudrand Rene , Carvajal Cristian , Grob Francisca , Garcia Hernan , Bancalari Rodrigo , Loureiro Carolina , Mendoza Carolina , Arancibia Monica , Vecchiola Andrea , Tapia Alejandra , Valdivia Carolina , Fuentes Cristobal , Solari Sandra , Allende Fidel , Fardella Carlos

Background: Leptin is considered to play an important role in the development of hypertension in obesity. The excessive synthesis of aldosterone contributes to the development and progression of metabolic and cardiovascular dysfunctions. Leptin is a newly described regulator of aldosterone synthesis that acts directly on adrenal glomerulosa cells to increase CYP11B2 expression and enhance aldosterone production in human adrenal cells lines and in animal models.<p class="ab...

hrp0086p1-p337 | Gonads &amp; DSD P1 | ESPE2016

46,XY Partial Gonadal Dysgenesis Caused by an Xp21.2 Interstitial Duplication that Does not Encompass the NR0B1 Gene

dos Santos Ana Paula , Piveta Cristiane dos Santos Cruz , de Andrade Juliana Gabriel Ribeiro , Fabbri Helena Campos , Lopes Vera Lucia Gil da Silva , Junior Gil Guerra , Guerra Andrea Trevas Maciel , Mello Maricilda Palandi

Background: A portion of 160 kb on Xp21.2 is defined as dosage sensitive sex reversal, including NR0B1, which is considered the most likely candidate gene involved in XY gonadal dysgenesis if overexpressed. The excess of NR0B1 gene product seems to disturb testicular development by down regulating NR5A1, WT1, and SOX9. Xp duplication causes insufficient SRY expression leading to testis development failure. However, NR0B1 si...

hrp0082p2-d2-332 | Diabetes (1) | ESPE2014

Game Interaction Between a Humanoid Robot and a Diabetic Teenager: Might This Improve Motivation to Fill in the Nutritional Diary?

Sanna Alberto , Baroni Ilaria , Oleari Elettra , Colombini Maria Iole , Pozzi Clara , Russo Gianni , Rigamonti Andrea , Frontino Giulio , Favalli Valeria , Battaglino Roseila , Bonura Clara , Bonfanti Riccardo , Ferro Giusy , Chiumello Giuseppe

Introduction: This study describes the experience of introducing Nao, a humanoid robot, into a Summer Camp for children with diabetes (August 2013, Misano Adriatico, Italy), with the aim to provide them a companion capable to support and motivate. Our goal was to investigate if, Nao’s interactions with children could positively affect the adherence to specific medical recommendations during their stay. Namely children were asked to fill in a specific nutritional diary. Th...