hrp0092p3-301 | Late Breaking Abstracts | ESPE2019

A novel heterozygous mutation in the SLC5A2 gene causing mild failure to thrive and subclinical hypoglycemia in a 2-year old girl

Dermitzaki Eleni , Manolakos Emmanouil , Filiousi Fotini , Kleanthous Kleanthis , Papadimitriou Dimitrios T.

Patients: A 2-year old girl was referred due to glucosuria 1874 mg/dl. Fasting blood sugar was 71 mg/dl and HbA1c 4.8%. Examination of her growth charts revealed mild failure to thrive, since 15 months of age, as far as weight gain and height velocity. We used Flash technology (FreeStyle Libre) to identify hypoglycemic episodes. In 9 days, 8% of the time was < 70 mg/dl, with 11 hypoglycemic events: mean duration 94 min, lowest 52 mg/dl.<p class...

hrp0089p3-p259 | Growth &amp; Syndromes P3 | ESPE2018

17p13.1 Microduplication Syndrome in a Child with Familial Short Stature and GH Deficiency: A Short Case Report

Leka-Emiri Sofia , Petrou Vassilios , Manolakos Emmanouil , Fotinou Aspasia , Thomaidis Loretta , Vlachopapadopoulou Elpis , Michalacos Stefanos

Background: To date, six cases of 17p13.1 microduplications have been described in the literature. Intellectual disability is the core feature, together with minor facial dysmorphisms and obesity later in life, but a characteristic phenotype for 17p13.1 microduplication has not been delineated.Objective and hypothesis: We describe a young patient with a 422 Kb microduplication maternally inherited in 17p13.1, affected by mild intellectual disability and ...

hrp0089p3-p410 | Multisystem Endocrine Disorders P3 | ESPE2018

A Novel Detrimental Homozygous Mutation of WFS1 Gene in Two Sisters from Non-consanguineous Parents with Untreated Diabetes Insipidus

Papadimitriou Dimitrios T , Kleanthous Kleanthis , Manolakos Emmanouil , Tiulpakov Anatoly , Nikolopoulos Thomas , Delides Alexandros , Voros Gerasimos , Dinopoulos Argyrios , Zoupanos George , Urano Fumihiko

Background: Wolfram syndrome (WS) is a rare autosomal recessive genetic disorder. We present two sisters from non-consanguineous parents, who presented to our pediatric endocrinology clinic due to severe polyuria-polydipsia with inappropriately treated DM (HbA1c 8.2% and 10.1%) and untreated DI.Methods: DNA was tested with PCR amplification and sequencing analysis (Sanger sequencing) of the entire coding region and all exon-intron splice junctions of the...