hrp0089p1-p031 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

Systematic Screening Using DXA Lateral Vertebral Morphometry is Associated with a High Prevalence of Vertebral Fractures in Duchenne Muscular Dystrophy: Results from ScOT-DMD Study

Joseph Shuko , Shepherd Sheila , Marco Marina Di , Dunne Jennifer , McMillan Martin , Horrocks Iain , Ahmed S Faisal , Wong Sze Choong

Background: The prevalence of vertebral fractures (VF) in Duchenne Muscular Dystrophy (DMD) is currently unknown as systematic spine imaging is rarely performed.Objective: To determine the prevalence of VF in DMD and factors associated with VF.Method: A prospective study utilising systematic screening with DXA vertebral fracture assessment (VFA) was performed in all 47 eligible boys. 6/47 were excluded due to spinal instrumentation...

hrp0089p1-p048 | Diabetes & Insulin P1 | ESPE2018

Menstrual Cycle Disorders in Young Women with Type 1 Diabetes Mellitus

Paschou Stavroula A , Vryonidou Andromachi , Melissourgou Marina , Kosteria Ioanna , Anagnostis Panagiotis , Goulis Dimitrios G , Chrousos George P , Kanaka-Gantenbein Christina

Background and aim: Epidemiologic observations suggest that women with type 1 diabetes mellitus (T1DM) often suffer from menstrual cycle disorders. There may also be a negative association between the age of onset of T1DM and the age of menarche. Delayed menarche, in turn, may be associated with increased risk for diabetic complications. The aim of this study was to prospectively investigate pathologic manifestations of reproductive function in young women with T1DM and their ...

hrp0089p3-p173 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Outcome of Eight Patients with Congenital Hyperinsulinism (CHI) Studied with 18[F]Dihydroxyphenyl-Alanine Positron Emission Tomography Imaging (18F-DOPA-PET-CT) in Argentina

Tangari Saredo Ana , Flanagan Sarah , Alonso Guillermo , Caceres Juan , Troiano Marina , Bignon Horacio , Bastianello Maria , Graciela Del Rey , Ignacio Bergada

Congenital hyperinsulinism (CHI) results from inappropriate insulin secretion most commonly caused by mutations in the ABCC8 and KCNJ11 genes which encode for the pancreatic β-cells-ATP-sensitive-potassium channel (KATP) subunits SUR1 and KIR6.2 respectively. Diagnosis of CHI is based on the presence of detectable plasma insulin during hypoglycemia, suppressed β-hydroxybutyrate and NEFA. Diazoxide is the major treatment for CHI, sirolimus had also b...

hrp0089p3-p313 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Two Cases of Non-syndromic Congenital Unilateral Hypoplasia in One Family

Stamatova Ana , Kuzevska-Maneva Konstandina , Sukareva-Angelovska Elena , Gucev Zoran , Tasic Velibor , Hofele Julija , Krstevska-Konstantinova Marina

Introduction: Micromastia or breast hypoplasia is a condition which is described as postpubertal underdevelopment of a woman’s mammary tissue. Breast hypoplasia may be congenital or acquired. The defect can be isolated or associated with other pathology, including syndromes and chest wall anomalies, it can also be unilateral or bilateral. Unilateral congenital breast hypoplasia is a rare anomaly of breast development, whose incidence is unclear.Meth...

hrp0086rfc11.6 | Thyroid | ESPE2016

Falsely TSH and Free Thyroid Hormone Measurements in Pediatric Patients Treated with High Dose of Biotin

Gal Moran , Hemi Rina , Gruber Noah , Sheinvald Sharon , Landau Yuval , Rubinshtein Marina , Kanety Hannah , Pinhas-Hamiel Orit

Background: Immunoassays are subjected to a number of interferences giving abnormal results which may lead to unnecessary investigations and treatment. We present clinical cases in which biotin treatment could be involved in abnormal results of thyroid function tests (TFTs) obtained by immunoassays based on biotinylated antibodies/analogs.Objective and hypotheses: Three infants were admitted to intensive care unit (ICU) during 2015, in Edmond and Lilly S...

hrp0086p2-p542 | Fat Metabolism and Obesity P2 | ESPE2016

Obstructive Sleep Apnea Syndrome in Early Childhood: Case Report

Rachid Ludmilla , Queiroz Edjane , Cominato Louise , Rocha Ruth , Ybarra Marina , Steinmetz Leandra , Semer Beatriz , Menezes Filho Hamilton , Damiani Durval

Background: Obstructive sleep apnea syndrome (OSAS) in children is a common medical disorder, often associated with adenoid and tonsil hypertrophy. The prevalence of OSAS has been increasing due to alarming rates of obesity in childhood. This is a very concerning subject since there is a higher risk of cardiovascular outcomes in patients with elevated BMI and OSAS.Objective and hypotheses: The aim of this study is to report a hazardous case regarding chi...

hrp0082p2-d3-557 | Puberty and Neuroendocrinology (2) | ESPE2014

Mutational Analysis of TAC and TACR3 in Idiopathic Central Precocious Puberty

Krstevska-Konstantinova Marina , Jovanovska Jana , Slaveska Nevenka , Tasik Velibor , Montenegro Luciana Ribeiro , Beneduzzi Daiane , Silveira Leticia Gontijo , Gucev Zoran

Background: The genetic background of idiopathic central precocious puberty (ICPP) is not well understood. The genetic activation of pubertal onset is thought to arise from the effect of multiple genes. Familial ICPP have been reported suggesting the existence of monogenic causes of ICPP. The neurokinin B (NKB) system has recently been implicated in the regulation of the human reproductive axis, but how NKB system exerts its effects on the central neuroendocrine control of hum...

hrp0084p1-99 | Growth | ESPE2015

GH Hypersecretion in Children with NF1 and Optic Pathway Gliomas

Pedicelli Stefania , Cambiaso Paola , Macchiaiolo Marina , Galassi Stefania , Mastronuzzi Angela , Del Bufalo Francesca , Ubertini Graziamaria , Cappa Marco

Background: The association of NF1 with optic pathway glioma (OPT) and GH hypersecretion was initially described in some isolated cases, while the presence of PP was more frequently reported in these patients. Association of gigantism and precocious puberty (PP) in five children with OPT (isolated in two and associated with NF1 in three cases) has been recently published.Aims: To evaluate the frequency of GH hypersecretion in children with NF1 and OPT, t...

hrp0084p2-442 | Gonads | ESPE2015

Differential Regulation of Serum Sex Hormone Binding Globuling in Polycystic Ovarian Syndrome Girls in Relation to Weight

Murillo-Valles Marta , Carbonell-Prat Marina , Granada Maria Luisa , Salinas Isabel , Martinez-Barahona Maria , Bel-Comos Joan

Introduction: It is thought that sex hormone binding protein (SHBG) is involved in glucose homeostasis in addition to regulate the levels of sex hormones. Clinical studies associate reduced SHBG concentrations with insulin resistance (IR).Objective: To evaluate the relationship of SHBG with IR and hyperandrogenism markers in a group of adolescents affected with polycystic ovarian syndrome (PCOS), and how weight could affect these markers.<p class="ab...

hrp0084p2-456 | Growth | ESPE2015

The Effect of Inhaled Glucocorticoid Therapy on Growth Patterns in Pre-Pubertal Children with Asthma Compared to Controls

De Leonibus Chiara , Roze Zane , Attanasi Marina , Marcovecchio Maria Loredana , Di Pillo Sabrina , Chiarelli Francesco , Mohn Angelika

Background: Controversial data exist on the possibility that inhaled glucocorticoids (IGs) affect growth in children with mild-to-moderate asthma. The majority of these studies are short-term reports lacking long-term assessment until the achievement of final height (FH).Objectives: To assess whether IGs affect growth and FH in asthmatic children compared to controls.Methods: 113 asthmatic (57/56 (males/females)) were compared to 6...