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...

hrp0092lb-16 | Late Breaking Posters | ESPE2019

Associations Between Pituitary Abnormalities and Treatment Response in Children with Growth Hormone Deficiency. First Multicenter Study in Portugal

Diamantino Catarina , Sofia Simões Ana , Borges Catarina , Costa Carla , Pereira Carla , Vieira Paula , Luísa Leite Ana , Cristina Monteiro Ana , Freitas Joana , Martins Sandrina , Teresa Bernardo Maria , Fonseca Marcelo , Mirante Alice

Background/Aims: Magnetic resonance imaging (MRI) is used to investigate the etiology of growth hormone deficiency (GHD). There is a close relationship between structural changes in the pituitary gland and clinical status.We aimed to investigate the relationship between MRI findings and clinical symptoms and treatment response in children with GHD.Methods: The study was conducted in nine Department...

hrp0092p3-315 | Late Breaking Abstracts | ESPE2019

Associations between Pituitary Abnormalities and Treatment Response in Children with Growth Hormone Deficiency. First Multicenter Study in Portugal

Diamantino Catarina , Simões Ana Sofia , Borges Catarina , Costa Carla , Pereira Carla , Vieira Paula , Leite Ana Luísa , Monteiro Ana Cristina , Freitas Joana , Martins Sandrina , Bernardo Maria Teresa , Fonseca Marcelo , Mirante Alice

Background/Aims: Magnetic resonance imaging (MRI) is used to investigate the etiology of growth hormone deficiency (GHD). There is a close relationship between structural changes in the pituitary gland and clinical status.We aimed to investigate the relationship between MRI findings and clinical symptoms and treatment response in children with GHD.Methods: The study was conducted in nine Department...

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...

hrp0086fc7.1 | Gonads &amp; 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...

hrp0097p1-120 | Growth and Syndromes | ESPE2023

Personalized behavioral change technique intervention with TUITEK® patient support program to support caregivers of children treated with growth hormone in Korea

Wook Chae Hyun , Sil Oh Eun , van Dommelen Paula , Jang Kyungmi , Kyung Jung Mo , Hyang Cho Ja , Suh Junghwan , Eun Moon Jung , Koledova Ekaterina , Yang Yoo-Jin , Yoo Eun-Gyong

Background: Growth hormone (GH) treatment requires long-term self-management and optimized recombinant-human growth hormone (r-hGH) prescription. Patient support programs (PSPs) are vital in educating, providing personalised support to caregivers and enhancing patient care to achieve optimal growth outcomes. Nurse-led PSP calls using behavior change techniques (BCTs) and motivational interviewing principles have demonstrated a meaningful behavior change across...

hrp0086p2-p51 | Adrenal P2 | ESPE2016

Bone Health Index in Children and Adolescents with Congenital Adrenal Hyperplasia

Alsaffar Hussain , Davies Rosie , Reed John , Das Urmi , Senniappan Senthil , Didi Mohammed , Blair Jo

Introduction: Patients with congenital adrenal hyperplasia (CAH) require life long glucocorticoid (GC) therapy. In CAH, the adverse effect of GC on bone health (BH) may be counteracted by the effect of modest elevations in adrenal androgens.Aim: To examine relationships between BH index (BHI) SDS, calculated by BoneXpert on bone age (BA) x-rays, BA, hydrocortisone (HC) dose (mg/m2 per day), and mean 17-hydroxyprogesterone (17-OHP) concentratio...

hrp0089p1-p216 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

SDgeneMatch, A New Tool to Aid the Identification of the Genetic Causes of DSD

De Ridder Jeroen , Bashamboo Anu , Baere Elfride De , Krone Nils , Mitchell Rod , Meyts Ewa Rajpert-De , Tobias Ed , Looijenga Leendert , Achermann John , Werner Ralf , Ahmed Faisal , Hiort Olaf , Greenfiled Andy , McElreavey Ken

Currently, the majority of patients with DSD do not have a molecular diagnosis. Although high throughput sequencing is having an impact on the clinical diagnosis of DSD the accurate interpretation genomic datasets of the identification of new gene mutations causing DSD is challenging. This is due to emerging evidence that DSD may be caused by mutations in many different genes and the prevalence of mutations in a single gene may be very low. As larger number of DSD patients are...

hrp0082p1-d3-170 | Growth (2) | ESPE2014

The ZOMATRIP Study: 4 Year Combination Therapy of GH and GnRHa in Girls with a Short Predicted Adult Height During Early Puberty: Interim Results at the End of the Treatment Phase

Rooman Raoul , France Annick , Heinrichs Claudine , Tenoutasse Sylvie , Brachet Cecile , Cools Martine , De Waele Kathleen , Masa Guy , Lebrethon Marie-Christine , Bourguignon Jean-Pierre , Gies Inge , Van Besien Jesse , De Rycke Christine , De Schepper Jean

Background: A combination of GH and a GnRH agonist is sometimes used to improve adult height in children with a poor height prediction, only few studies support this.Study design: In this multicenter study, 24 short girls in early puberty, with a bone age below 12.0 years, an adult height prediction below 151.0 cm and normal body proportions were treated with GH (Zomacton) transjections 50 μg/kg per day and triptorelin (Decapeptyl) i.m. (3.75 mg/mon...

hrp0097p2-74 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

A recessive heterozygous mutation in ABCC8 gene as the cause of severe congenital hyperinsulinism: a case report

Scheidemantel Aline , de Carvalho Kraemer Gabriela , Nesi-França Suzana , Ângela Ramires De Carvalho Julienne , Marcolla Bordin Pazzini Luiza , Eduardo Cruvinel Pinto Luís , Junqueira Soares Gabriel , De Lacerda Luiz , Marques Pereira Rosana , Cardoso-Demartini Adriane

Case Report: A preterm boy was born at 35 weeks gestational age by cesarean section due to fetal macrossomia and polyhydramnios, weight 4980g (4.3 SDS, Intergrowth 21st), length 53cm (3.1 SDS), 1-min-Apgar 2. He needed resuscitation after birth, and his glycemia was 20 mg/dL. At the Neonatal Intensive Care Unit (NICU), he presented with severe hypoglycemia (10mg/dL) and required intravenous glucose infusion rate (GIR) 10mg/kg/min that increased progressively u...