hrp0084p3-1126 | Pituitary | ESPE2015

Outstanding Growth Response to Growth Hormone Replacement Therapy in 3 Different Cases of Growth Hormone Deficiency

Saranac Ljiljana , Djuric Zlatko , Markovic Ivana , Stamenkovic Hristina , Lazarevic Dragoljub , Cvetkovic Vesna

Background: Growth response in growth hormone deficient children during growth hormone (GH) replacement therapy rarely fulfil our projections and patientÂ’s expectations. We here report 3 cases with outstanding growth response.Case reports: First patient was diagnosed as gluten enteropathy in early childhood, but the diet did not improve his growth. At age of 7 years the diagnosis of isolated growth hormone deficiency (GHD) was established and GH sub...

hrp0095p2-146 | GH and IGFs | ESPE2022

GH responsiveness and IGF1 P2 promotor methylation

Apel Anja , I. Iliev Daniel , Urban Christina , Weber Karin , Schweizer Roland , Blumenstock Gunnar , Pasche Sarah , Nieratschker Vanessa , Binder Gerhard

Background: The methylation of IGF1 promoter P2 was reported to negatively correlate with serum IGF-1 concentration and rhGH treatment response in children with idiopathic short stature. These findings have not yet been confirmed.Objective: This study aimed to determine IGF1 promoter P2 methylation in short children treated with rhGH and correlate clinical parameters with the methylation status. In addition, long-term st...

hrp0089p1-p004 | Adrenals and HPA Axis P1 | ESPE2018

Carriers of CYP21A2 Mutations have Decreased Mortality in Infectious Diseases, Anational Population Registry Study

Nordenstrom Anna , Svensson Johan , Lajic Svetlana , Frisen Louise , Nordenskjold Agneta , Norrby Christina , Almqvist Malmros Catarina , Falhammar Henrik

Background: Congenital adrenal hyperplasia (CAH) is a relatively common monogenic recessive disorder with an incidence of 1/15 000 in most populations. It has been suggested that CYP21A2 deficiency is relatively common because it may confer a survival advantage to be a carrier. Carriers of CYP21A2 mutations typically do not have clinical symptoms but have a defined phenotype. The cortisol response to ACTH stimulation has been shown to be both...

hrp0089p3-p404 | Adrenals and HPA Axis P3 | ESPE2018

Clinical and Biochemical Phenotype of Aldosterone Synthase Deficiency

Fortsch Katharina , Doing Carsten , Wudy Stefan A , Hartmann Michaela F , Martin Holterhus Paul , Mayatepek Ertan , Reinauer Christina , Meissner Thomas , Kummer Sebastian

Background: Biallelic mutations of the CYP11B2 aldosterone synthase gene cause deficiency of aldosterone synthesis. Patients exhibit isolated deficiency of aldosterone biosynthesis, increased plasma renin activity, increased steroid precursors desoxycorticosterone, corticosterone, as well as 18-hydroxy-desoxycorticosterone, and show salt wasting and poor growth. The aldosterone synthase enzyme has 18-hydroxylase (corticosterone methyloxidase type I, CMO I) and 18-oxidase (CMO ...

hrp0089p3-p309 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

GLP-1 Receptor Agonist in a Patient with Craniopharyngioma-Related Obesity

Antoniou Maria-Christina , Diaz-Escagedo Patricia , Bouthors Therese , Elowe-Gruau Eglantine , Stoppa-Vaucher Sophie , Messerer Mahmoud , Hauschild Michael

Introduction: Glucagon-like peptide 1 (GLP-1) receptor agonists have been successfully used in adults with hypothalamic obesity, showing a BMI decrease and metabolic profile improvement. Data on GLP-1 receptor agonist treatment for children and adolescents is limited. Herein, we present a clinical case of a male adolescent treated with GLP-1 receptor agonist for hypothalamic obesity, secondary to craniopharyngioma.Case report: A 15.8 year-old boy (Height...

hrp0086p2-p83 | Adrenal P2 | ESPE2016

Testicular Adrenal Rest Tumors in two Young Patients with Congenital Adrenal Hyperplasia

Daniela Belceanu Alina , Bursuc Anamaria , Armasu Ioana , Constantinescu Georgiana , Crumpei Felicia , Matasariu Roxana , Christina Ungureanu Maria , Mogos Voichita , Vulpoi Carmen

Background: Testicular adrenal rest tumours (TART) may develop in males with congenital adrenal hyperplasia (CAH), with a widely variable prevalence. Having no malignant features, there seems to be no need to remove them. However, these lesions may increase in size and number when exogenous hormone therapy is inadequate. Untreated, may lead to infertility and irreversible damage of the surrounding testicular tissue.Case report: We present two cases, diag...

hrp0086p2-p148 | Bone & Mineral Metabolism P2 | ESPE2016

A Preliminary Report on Body Composition Profile of Young Patients with Chronic Hemolytic Conditions

Doulgeraki Artemis , Chatziliami Antonia , Athanasopoulou Helen , Polyzois Georgios , Petrocheilou Glykeria , Iousef Jacqueline , Karabatsos Fotis , Schiza Vasiliki , Fragodimitri Christina

Background: Chronic hemolytic anemias may compromise growth through multiple mechanisms. To date, no data exist on growth and body composition (BC; bone, muscle and fat mass) of children and adolescents with chronic hemolysis.Purpose: To evaluate growth and BC of patients with thalassemia intermedia (not on regular transfusions; thal-intermedia), alpha-thalassemia and congenital spherocytosis....

hrp0086p1-p374 | Gonads & DSD P1 | ESPE2016

GATA Transcription Factors in Testicular Adrenal Rest Tumours

Engels Manon , Span Paul , van Herwaarden Teun , Hulsbergen-van de Kaa Christina , Sweep Fred , Claahsen-van der Grinten Hedi

Background: Testicular Adrenal Rest Tumours (TARTs) are benign tumours that frequently occur in male patients with congenital adrenal hyperplasia. They exhibit both testicular and adrenal characteristics, but their aetiology is unknown. Additionally, TART resembles Leydig cell tumours (LCTs), while no marker exist to discriminate between these testis tumours. GATA transcription factors play an important role in eukaryotic development and are expressed in foetal and adult adren...

hrp0086p1-p483 | Fat Metabolism and Obesity P1 | ESPE2016

The Effectiveness of a Stress Management Intervention Program in the Management of Overweight and Obesity in Childhood and Adolescence

Stavrou Stavroula , Nicolaides Nicolas C. , Papageorgiou Ifigeneia , Papadopoulou Pinelopi , Terzioglou Eleni , Darviri Christina , Chrousos George P. , Charmandari Evangelia

Background: Obesity in childhood and adolescence represents a major health problem of our century, and accounts for a significant increase in morbidity and mortality in adulthood. In addition to the increased consumption of calories and lack of exercise, accumulating evidence suggests that childhood obesity is strongly associated with prolonged and excessive activation of the stress system.Objective and hypotheses: The aim of our study was to assess the ...

hrp0086p2-p658 | Growth P2 | ESPE2016

Early Diagnosis and Treatment of a Newborn with POU1F1 Mutation

Bouthors Therese , Antoniou Marie-Christina , Dwyer Andrew , Stoppa-Vaucher Sophie , Elowe-Gruau Eglantine , Phan-Hug Franziska , Pitteloud Nelly , Hauschild Michael

Background: POU1F1 encodes a pituitary-specific homeodomain transcription factor that is crucial for development and differentiation of anterior pituitary cell types. Mutations in this gene result in GH, TSH and prolactin (PRL) deficiencies.Objective and hypotheses: To describe a male newborn of a mother with known dominant p.R271W mutation in the POU1F1 gene.Methods: Case report with clinical follow up, endocrine investigations, n...