hrp0086p2-p407 | Gonads & DSD P2 | ESPE2016

State of Knowledge of Late Endocrinological Effects of Hematological Patients Who Has Undergone Chemotherapy

Bien Beata , Budny Joanna , Kabaj Maciej , Gielzak Magda , Urbaniak Donata , Barg Ewa

Introduction: Medical advances result in cure and life extension. Modern methods of oncological treatment lead to late endocrinological side effects.Objective of the study: The aim of the study was to assess the patients’ knowledge of possible result of chemotherapy and its long-term effects linked to gonadal dysfunction.Materials and methods: The survey covered a group of 92 (62 women) patients with hematologic neoplasms at t...

hrp0082p1-d2-27 | Autoimmune Endocrine Disease | ESPE2014

Late Endocrine Effects Despite Reduced Intensity Chemotherapy for Bone Marrow Transplantation in Children

Howell Jonathan , Myers Kasiani , Lane Adam , Wallace Gregory , Jodele Sonata , Rose Susan

Background: Bone marrow transplantation (BMT) is known to affect endocrine function, most commonly causing primary hypothyroidism and hypogonadism in children. Newer reduced intensity conditioning (RIC) uses less myeloablative chemotherapy and no irradiation. Our study goal was to evaluate endocrine effects at 1 year post BMT in pediatric patients who received RIC.Methods: Retrospective, IRB-approved chart review was performed on 121 patients (44 females...

hrp0084p2-399 | GH & IGF | ESPE2015

Is Retesting in GH Deficient Children Really Useful?

Pagani Sara , Meazza Cristina , Gertosio Chiara , Donati Chaira , Scavuzzo Francesca , Pilotta Alba , Buzi Fabio , Larizza Daniela , Bozzola Mauro

Background: Patients with childhood-onset GH deficiency (GHD) are usually retested in late adolescence or young adulthood, after achievement of final height, to verify whether they need to continue GH treatment. Most of the patients found to have idiopathic GHD when tested as children have normal GH responses when retested in the early or late adolescence. Indeed, the 2007 Consensus guidelines for the diagnosis and treatment of GHD adults recommended that idiopathic GHD patien...

hrp0086p1-p197 | Diabetes P1 | ESPE2016

Diagnosis of Non-Autoimmune Paediatric Diabetes by Targeted Next Generation Sequencing (NGS): Findings in Two Families with Rare Mono- and Digenic forms of Diabetes

Poidvin Amelie , Donath Xavier , Saint-Martin Cecile , Loison Sylvie , Carel Jean-Claude , Bellanne-Chantelot Christine , Tubiana-Rufi Nadia

Background: Nearly 10% of paediatric onset diabetes are auto-antibodies negative. Among them monogenic diabetes are frequently under-diagnosed. The major increase in the prevalence of childhood obesity is misleading with a risk of confusion between type 2 diabetes (T2D) and monogenic causes of diabetes.Objective and hypotheses: To report on two informative families with negative auto-antibodies childhood-onset diabetes cases.Method...

hrp0084p1-97 | Growth | ESPE2015

High Frequency of Hypomorphic Allelic Haplotypes of the gh1 Proximal Promoter in Patients with Proportional Undergrowth and Isolated GH Deficiency

Campos-Barros Angel , Gomez-Nunez Ana , Zurita-Munoz Olga , Gallego-Gomez Elena , Cruz-Rojo Jaime , Garzon Lucia , Luzuriaga-Tomas Cristina , Riano-Galan Isolina , Bezanilla-Lopez Carolina , Donate-Legaz Jose Maria , Marban-Calzon Mercedes , Ruperez Sara , Hermoso Florinda , Lara-Orejas Emma , Borras-Perez Ma Victoria , Rius-Peris Jose Manuel , Garcia-Cuartero Beatriz , Gonzalez-Casado Isabel

Background: Although isolated GH deficiency (IGHD) is one of the most frequent causes of postnatal proportional undergrowth, up to 85–90% of IGHD cases are still classified as idiopathic. On the other hand, previous reports identified up to 40 different GH1 proximal promoter haplotypes, some of which show hypomorphic effects, significantly reducing GH1 expression levels.Objective and hypotheses: To investigate the frequency of ...

hrp0089p3-p029 | Adrenals and HPA Axis P3 | ESPE2018

A New Methodology for Early Identification of Steroid Resistant Acute Graft-Versus-Host Disease Patients

Gillio Alfred , Krajewski Jennifer , Donato Michele , Durning Nancy , Haugh Jeanette , Balboul Sarah , Ghanny Steven

Background: For many patients with high-risk cancers, allogeneic stem cell transplant (SCT) is the only curative option. A major risk of SCT is acute graft versus host disease (aGVHD). About 50% of SCT patients develop aGVHD as a part of their course. Glucocorticoids are the mainstay of therapy in aGVHD patients. Of the patients that develop aGVHD, about 50% develop a steroid refractory/resistant form. These patients tend to require higher doses of steroids and many will requi...

hrp0086p2-p93 | Adrenal P2 | ESPE2016

Use of an F-DEX Monocyte Binding Assay to Measure Steroid Responsiveness of Patients and their Related Donors Undergoing Stem Cell Transplant

Gillio Alfred , Krajewski Jennifer , Donato Michele , Rowley Scott , Aisenberg Javier , Ghanny Steven

Background: Graft versus host disease (GVHD) is a complex disease resulting from donor T-cell recognition of a genetic disparate recipient, which is unable to reject donor cells after allogeneic transplant. Glucocorticoids (steroids) are the mainstay of acute GVHD therapy. Glucocorticoid resistance has been characterized in several inflammatory conditions including asthma, rheumatoid arthritis, systemic lupus, erythematosus, ulcerative colitis, and Crohn’s disease. Glucoc...

hrp0082p2-d3-437 | Growth Hormone (2) | ESPE2014

Long-Term Effects of GH Replacement Therapy on Thyroid Function in GH Deficiency Children

Esposito Andrea , Donato Iolanda Di , Rezzuto Martina , Alfano Sara , Moracas Cristina , Capalbo Donatella , Salerno Mariacarolina

Background: Several studies have investigated the effects of GH replacement therapy (GHRT) on thyroid function in children with GH deficiency (GHD) leading to contrasting results. Indeed, GHRT has been reported to affect the peripheral metabolism of thyroid hormones, to alter TSH secretion by pituitary and to unmask secondary hypothyroidism.Objective and hypotheses: To evaluate long-term effects of GHRT on thyroid function in a large cohort of GHD childr...

hrp0084p3-1208 | Thyroid | ESPE2015

Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHB Gene – Just Think about It!

Flury Monika , Naeke Andrea , Di Donato Nataliya , Hahn Gabriele , Huebner Angela

Background: Congenital primary hypothyreoidism occurs in about 1 of 3 600 life births and is usually detected with newborn screening. Early levothyroxine treatment is the prerequisite for normal psychomotor development of affected children. However, patients suffering from congenital central hypothyroidism are missed by the screening procedure, which may lead to delayed diagnosis and therapy. In very rare cases central hypothyroidism is caused by isolated TSH deficiency due to...

hrp0082p3-d1-975 | Thyroid | ESPE2014

Prevalence of Additional Autoimmune Diseases in Autoimmune’s Thyroiditis Children and Their First- and Second-Degree Relatives: Results from a Large, Single-Center Study

De Martino Lucia , Di Donato Iolanda , Alfano Sara , D'Acunzo Ida , Di Pinto Rosita , Capalbo Donatella , Salerno Mariacarolina

Background: Autoimmune’s thyroiditis (AT) is the most common cause of thyroid diseases in children and adolescents with a peak in early to mid-puberty (prevalence of 0.3–1.2%). Previous studies showed a high rates of familiarity for autoimmune disease (AD) and co-existing autoimmunity in AT subjects.Objective and hypotheses: Aim of our study is to investigate familiarity for AD and co-existing autoimmunity in a large cohort of pediatric AT pati...