hrp0084p1-138 | Turner & Puberty | ESPE2015

Weight Gain in Turner Syndrome: Association to Puberty Induction?

Reinehr Thomas , Lindberg Anders , Toschke Christina , Cara Jose , Chrysis Dionisios , Camacho-Hubner Cecila

Background: We have recently reported a BMI-SDS increase in girls with Turner syndrome (TS) treated with growth hormone (GH) (1).Objective and hypothesis: We hypothesise that puberty induction in TS is associated with weight gain.Method: We analysed the weight changes (BMI-SDS) of 888 girls with TS in the Pfizer International Growth Database (KIGS). Overweight was defined by a BMI >90th percentile and obesity by a BMI >97th...

hrp0084p2-240 | Bone | ESPE2015

Size-Corrected Bone Mineral Density is not Affected by Haematopoietic Stem Cell Transplantation and Total Body Irradiation in Leukaemia Survivors

Wei Christina , Elson Ruth , Cox Rachel , Bradley Karin , Barton John , Stevens Michael , Crowne Elizabeth

Background: Childhood haematopoietic stem cell transplantation and total body irradiation (HSCT/TBI) survivors have multiple risk factors for reduced bone mineral density (BMD) and poor growth. Reduced z-scores from dual energy x-Ray absorptiometry (DEXA) have been reported, but are unreliable in patients with short stature/abnormal body composition.Objective: To investigate the influence of HSCT/TBI on size-corrected BMD in childhood leukaemia ...

hrp0084p2-336 | Fat | ESPE2015

Diagnosing the Metabolic Syndrome in Survivors of Childhood Haematopoietic Stem Cell Transplantation and Total Body Irradiation

Wei Christina , Hunt Linda , Elson Ruth , Cox Rachel , Bradley Karin , Shield Julian , Stevens Michael , Crowne Elizabeth

Background: The well-documented increased cardiometabolic risk in haematopoietic stem cell transplantation and total body irradiation (HSCT/TBI) survivors is under-recognised using standard (International Diabetes Federation (IDF)) metabolic syndrome (MetS) criteria. This is defined as the presence of central adiposity using increased waist circumference (WC) or BMI, (often not abnormal in HSCT/TBI survivors despite increased central adiposity), plus additional features includ...

hrp0084p3-581 | Adrenals | ESPE2015

New Mutation Causing Systemic Pseudohypoaldosteronism

Pedicelli Stefania , Cambiaso Paola , Zennaro Maria-Christina , Ferro Giusy , Cianfarani Stefano , Cappa Marco

Background: Pseudohypoaldosteronism (PHA) is a rare heterogeneous syndrome of mineralocorticoid resistance. PHA type 1 (PHA1) is characterized by neonatal salt loss, failure to thrive, dehydration and circulatory shock. It includes two forms: renal (autosomal dominant), due to mutations in mineralocorticoid receptor coding gene NR3C2, and systemic (autosomal recessive), due to mutations in subunit genes of the epithelial sodium channel (ENaC). ENaC is constituted of three subu...

hrp0084p3-757 | Diabetes | ESPE2015

Acute Painful Neuropathy in a Teenager with Type 1 Diabetes (T1D) and Eating Disorders

Louraki Maria , Katsalouli Marina , Kallinikou Dimitra , Kanaka-Gantenbein Christina , Kandyla Betina , Sakkou Eirini , Karavanaki Kyriaki

Background: Acute painful neuropathy (APN) is a rare manifestation of diabetic neuropathy (DN) in T1D adolescents, associated with poor metabolic control. Eating disorders (ED) often present in T1D patients in association with metabolic derangement, leading to the development of diabetic complications.Case presentation: A teenage girl aged 12 years with a recently diagnosed T1D (duration: 9 months) was admitted with diabetic ketoacidosis...

hrp0084p3-795 | DSD | ESPE2015

Polymorphisms and Mutations of the Genes INSL3 and HOXD13 in the Pathogenesis of Isolated Cryptorchidism in Greece

Vappa Sofia , Sofocleous Christalena , Nikas Konstantinos , Mastorakos Georgios , Kanavakis Emmanouel , Kanaka-Gantenbein Christina

Background: Current literature suggests an important role of both endocrine disruptors and genetic factors in the occurrence of cryptorchidism.Objective and hypotheses: The aim of the study is to investigate the impact of variants in INSL3 and HOXD13 genes in the pathogenesis of isolated cryptorchidism in Greece. 43 boys with isolated cryptorchidism and 50 healthy non-cryptorchidic boys (control group) were enrolled.<p class="abstex...

hrp0084p3-1109 | Pituitary | ESPE2015

Acute Phase Proteins and Endocrine Dysfunction after Traumatic Brain Injury in Childhood

Verigaki Olga , Papassotiriou Ioannis , Prodromou Neofytos , Sfakianos George , Chrousos George , Kanaka-Gantenbein Christina

Background: Endocrine impairments, such as diabetes insipidus (DI), growth hormone deficiency (GHD) and, to a lesser degree, thyroid or cortisol deficiencies, have been reported after traumatic brain injury (TBI) in adults and much less in children both at the acute post-traumatic phase and after a lag period of time. However, no prospective data exist on the endocrine and acute phase protein response to TBI in childhood.Aim/objective: To unravel possibl...

hrp0094p2-32 | Adrenals and HPA Axis | ESPE2021

Congenital Adrenal Hyperplasia caused by homozygous pathogenic variant in the HSD3B2 gene.

Fylaktou Eirini , Christoforidis Athanasios , Moutsanas Vissarios , Sertedaki Amalia , Kanaka-Gantenbein Christina ,

Introduction: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder caused by impairment of one of the enzymes involved in the steroidogenesis pathway. 3βhydroxysteroid dehydrogenase type 2 deficiency (3βHSD2 deficiency) is a rare form of CAH (<0.5%) due to pathogenic variants in the HSD3B2gene encoding for the enzyme Type 2 3β-hydroxysteroid dehydrogenase Δ4–Δ5isomerase (3&#946...

hrp0094p2-185 | Fat, metabolism and obesity | ESPE2021

A Comprehensive, Multidisciplinary, Personalized, Lifestyle Intervention Program is Associated with Increased Leukocyte Telomere Length in Children and Adolescents with Overweight and Obesity

Paltoglou George , Raftopoulou Christina , Nicolaidis Nicolas , Genitsaridi Sophia , Karabatsou Sophia , Papadopoulou Marina , Kassari Penio , Charmandari Evangelia ,

Background/Aim: Leucocyte telomere length (LTL) is a robust marker of biological aging and is associated with obesity and cardiometabolic risk factors even in childhood and adolescence. The aim of the present study was to assess the effect of a structured, comprehensive, multidisciplinary, personalized, lifestyle intervention program of healthy diet and physical exercise on LTL in children and adolescents with overweight and obese.Materi...

hrp0097p1-16 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Low bone mineral density in children with Cerebral Palsy and its risk factors: finding a way to prevent secondary osteoporosis

Lindblad Pedersen Marianne , Mol Debes Nanette , Engel Høi-Hansen Christina , Johannesen Jesper

Introduction: Children with cerebral palsy (CP) has an increased risk of bone fragility, low areal bone mineral density (aBMD) and low trauma fractures leading to increased pain experience, decreased mobility and lower quality of life.Purpose: The aim of this study was to determine the prevalence of low BMD among children with cerebral palsy in Denmark across the spectrum of gross motor function scale (GMFCS) of I-V and ...