hrp0089p2-p216 | GH & IGFs P2 | ESPE2018

Incidence and Prevalence of GH Deficiency in the Russian Federation – An Analysis of Two Registries

Vorontsova Maria

Background: GH therapy for GH deficient (GHD) children in Russia is fully state funded as part of the ‘Seven high expenditure diseases’ (7HED) federal program. Thus, it is important to thoroughly understand the disorder, including its epidemiology. In Russia, there are two parallel functioning registries: the official federal medical statistics (OFMS) which provides purely statistical information and the 7HED registry which must contain a patient’s data to make ...

hrp0095p1-330 | Growth and Syndromes | ESPE2022

The JAMP (Journey around Achondroplasia Medicines and Patients) Project: Results Collected From Two Surveys to clinicians and Patients in Italy

Antoniazzi Franco , Francesca Bedeschi Maria , Boero Silvio , LidonniciDario , Maghnie Mohamad , MoraStefano , Ravasio Roberto , Scarano Gioacchino , Selicorni Angelo , Sessa Marco , Verdoni Fabio , Zampino Giuseppe

Achondroplasia is a rare genetic condition caused by a recurrent pathogenetic variant in the FGFR3 gene resulting in short limb skeletal dysplasia. Due to the wide-ranging anomalies associated with achondroplasia (both peculiar clinical features and complications), a multidisciplinary team is often required for ongoing care, although the nature of specialists involved differs among countries. Despite a European consensus on principles for the management of achondropla...

hrp0082p2-d1-459 | Growth | ESPE2014

Comparison Between GH assay: serum GH Cut-off Levels by ECLIA Performed in Pharmacological Estimulation Tests in Children With Short Stature

Aguirre Cecilia , Sobrero Gabriela , Schvab Giselle , Silvano Liliana , Alvarez Julia , Ochetti Mariana , Lescurat Maria , Paez Alejandra , Munoz Liliana , Martin Silvia , Miras Mirta

Background: The diagnosis of GH deficiency in children is based on clinical, auxological, radiographic and biochemical criteria which include response to Pharmacological Estimulation Tests (PhT). It is well known that GH concentrations vary according to the assay method used. Currently in our population, the proposed cut-off value of serum GH PhT is 4.7 ng/ml measured by ICMA using the IRP 98/574.Objective and hypotheses: The aims of this study were to d...

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...

hrp0098p1-120 | Bone, Growth Plate and Mineral Metabolism 2 | ESPE2024

Health-related quality of life (HRQL) in paediatric patients with X-linked hypophosphatemia (XLH) in France: analysis of observational real-world registry data

Amouroux Cyril , Bacchetta Justine , Harambat Jerome , Gueorguieva Iva , Salles Jean-Pierre , Sandilands Kerry , Rylands Angela , Williams Angela , Ishii Haruka , Dent Jennifer , Nixon Annabel , Linglart Agnès

Background: X-linked hypophosphatemia (XLH) is a rare, progressive, phosphate-wasting disorder that compromises skeletal development in childhood. The international XLH registry (NCT03193476) is a non-interventional, observational, real-world data collection programme established in August 2017 in Europe and Israel, with enrolment open to patients of any age with XLH.Objectives: To describe real-world registry data on HR...

hrp0097p1-56 | Fat, Metabolism and Obesity | ESPE2023

Lipoma slice cultures as a new model to examine the effects of PI3K inhibitors on lipid accumulation

Maria Merz Lea , Kallendrusch Sonja , Winter Karsten , Klöting Nora , Krause Kerstin , Le Duc Diana , Kiess Wieland , Garten Antje

Introduction: PTEN hamartoma tumor syndrome (PHTS) is a rare genetic disorder caused by germline mutations in the tumor suppressor gene Phosphatase and tensin homologue (PTEN), a negative regulator of the phosphoinositide-3 kinase (PI3K)/AKT/ mechanistic target of rapamycin (mTOR) pathway. Children with PHTS frequently develop adipose tissue overgrowth, so called lipomas that can lead to loss of organ function due to displacing lipoma growth. Currently, except...

hrp0092p1-253 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

Changes in the Body Mass Index in Children with Central Precocious Puberty' Under Gonadotropin-Releasing Hormone Analogue Treatment - A Multicentric Study

Galo Elisa , Leite Ana Luisa , Antunes Ana , Robalo Brígida , Espada Filipa , Castro Sofia , Dias Sara , Limbert Catarina

Precocious Puberty is defined by the onset of pubertal development at an age 2-2,5 standard deviations earlier than the normal population. Central Precocious Puberty (CPP) is diagnosed when the hypothalamic-pituitary axis is activated. Gonadotropin-releasing hormone analogues (Gn-RH analogues) are the main treatment option, but sometimes controversial. Whether this treatment influences children's body mass index (BMI) and a different BMI progression is still unclear.<p...

hrp0092p1-364 | GH and IGFs (2) | ESPE2019

GH Values in Serum and Blood Spots on Filter Paper Samples in Neonates Until 30 Days of Life by Electrochemiluminescence (ECLIA).

Miras Mirta , Silvano Liliana , Campi Veronica , Ochetti Mariana , Sobrero Gabriela , Castro Laura , Martin Silvia , Testa Graciela , Franchioni Liliana

Growth Hormone deficiency (GHD) in newborn is an infrequent condition, which can cause threat to life due mainly to hypoglycemia that begins in the first week of life. A GH basal level (whether random or associated with spontaneous hypoglycemia) that distinguishes infants with GHD from those with GH sufficiency in the neonatal period is not conclusive. Few data have been reported about the GH measurements in serum and dried blood spots on filter paper samples in healthy neonat...

hrp0092p2-61 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Osteogenesis Imperfecta: Genetic Evaluation

Castro-Feijoo Lidia , de la Torre Marina , Cabanas Paloma , Pino Jesus , Pombo Manuel , Barreiro Jesus , Loidi Lourdes

Osteogenesis imperfecta (OI) is a rare, hereditary bone dysplasia with a broad clinical spectrum that includes skeletal and extra-skeletal manifestations. It is genetically heterogeneous and there are multiple described mutations that explain the clinical variability of this entity and make it difficult to establish a genotype-phenotype correlation.Objectives: To evaluate the clinical and genetic characteristics of the patient with OI.</...

hrp0089p1-p024 | Adrenals and HPA Axis P1 | ESPE2018

Gonadotropin-Dependent Pubertal Disorders are Common in Patients with Virilizing Adrenocortical Tumors in Childhood

Stecchini Monica F , Braid Zilda , More Candy B , Aragon Davi C , Castro Margaret , Moreira Ayrton C , Antonini Sonir R

Background: In pediatric patients with adrenocortical tumors (ACT), morbidity and mortality rates have been extensively evaluated. However, there are almost no data on the late consequences of early exposure to high androgen levels on pubertal development and on final height (FH) in these patients.Objective: To investigate the impact of early exposure to androgen excess on gonadotropin-dependent pubertal development and on final height (...