Searchable abstracts of presentations at key conferences in endocrinology

ea0099p514 | Pituitary and Neuroendocrinology | ECE2024

A Novel CDKN1B mutation in multiple endocrine neoplasia type 4

Millou Christina , Chrousos George , Sertedaki Amalia

Multiple endocrine neoplasia (MEN) includes a group of autosomal dominant disorders, associated with the development of a variety of endocrine and non-endocrine manifestations. MEN4 is a rare and the latest reported type in the spectrum of the MEN syndromes. MEN4 was discovered initially in rats (MENX) and later in humans. It is caused by germline and somatic mutations in the cyclin-dependent kinase inhibitor 1B (CDKN1B) tumor suppressor gene, which encodes nuclear protein p27...

ea0073oc2.5 | Oral Communications 2: Diabetes, Obesity, Metabolism and Nutritionw | ECE2021

Genetic characterization of MODY patients in greece

Sertedaki Amalia , Fylaktou Eirini , Tatsi Elizabeth , Kanaka-Gantenbein Christina

Background Maturity Onset Diabetes of the Young (MODY) constitutes a genetically and clinically heterogeneous type of Monogenic Diabetes (MD), characterized by early onset of hyperglycemia, autosomal dominant inheritance and defect in β-cell insulin secretion. To date, various MODY subtypes have been reported, each one of a distinct genetic etiology. Materials and methods A total of 114 patients of Greek orig...

ea0081yi1 | Young Investigator Awards | ECE2022

Excessive bilateral adrenal hyperplasia associated with aldosterone synthase (CYP11B2) deficiency

Diamantopoulos Aristidis , Mourelatos Panagiotis , Sertedaki Amalia , Botoula Efthimia , Vassiliadi Dimitra , Tsagarakis Stylianos

Introduction: Congenital adrenal hyperplasia (CAH) encompasses a group of enzymatic defects in cortisol biosynthesis resulting in adrenal hyperplasia through chronic compensatory ACTH stimulation. Aldosterone synthase deficiency, however, is associated with normal cortisol secretion and there are no reports on whether it may be associated with adrenocortical hyperplasia.Case Presentation: A 37-year-old, Greek female was referred for further investigation...

ea0067gp40 | Poster Presentations | EYES2019

Congenital hyperinsulinism due to a novel activating glucokinase mutation: a case report and literature review

Skarakis Nikitas S , Kanaka-Gantenbein Christina , Dimopoulou Dimitra , Sertedaki2 Amalia , Karachaliou Feneli

Background: Congenital Hyperinsulinism (CH) or, as previously named, Hyperinsulinemic Hypoglycemia (HH), constitutes a major cause of persistent and recurrent hypoglycemia, especially in the neonatal period, showing notable phenotypical heterogeneity among affected subjects. Mutations in genes implicated in insulin release, represent the majority of the cases of CH. Activating mutations of the Glucokinase gene (GCK) are responsible for mild forms of hypoglycemia usual...

ea0063p620 | Diabetes, Obesity and Metabolism 2 | ECE2019

Next generation sequencing reveals ABCC8 (MODY 12) variants in two families with diabetes mellitus (DM)

Markou Athina , Sertedaki Amalia , Tatsi Elizabeth , Piaditis George , Kounadi Theodora , Kanaka-Gantenbein Christina

Introduction: Maturity Onset Diabetes of the Young (MODY) constitutes a genetically and clinically heterogeneous type of Monogenic Diabetes (MD). It is characterized by autosomal dominant inheritance, early onset diabetes, defect in the β-cell insulin secretion, positive family history, absence of diabetic ketoacidosis, auto-antibodies and insulin resistance. To date, 14 different MODY subtypes have been reported each one with distinct genetic etiology, however MODY patie...

ea0073aep323 | Diabetes, Obesity, Metabolism and Nutrition | ECE2021

Identification of a novel mutation of the abcc8 gene in a greek subject with mody12

Kanti Georgia , Papanastasiou Labrini , Sertedaki Amalia , Glikofridi Spyridoula , Gantenbein Christina Kanaka , Kounadi Theodora

Introduction’Maturity-onset diabetes of the young’ (MODY) constitutes a group of clinically and genetically heterogeneous monogenic forms of diabetes, characterized by beta-cell dysfunction. It describes an autosomal dominantly inherited disorder, caused by mutations in different genes, characterized by noninsulin-dependent diabetes commonly diagnosed at a young age. Fourteen MODY subtypes have been reported, often misdiagnosed as type 1 or 2 d...

ea0099ep757 | Endocrine-Related Cancer | ECE2024

SDHB gene mutation in a young patient with paraganglioma presented with abdominal pain

Lymniati Christina , Sertedaki Amalia , Kyriakopoulos Georgios , Kanaka-Gantenbein Christina , Tsentidis Charalampos

Introduction: Paragangliomas are rare neuroendocrine neoplasms originating from the chromaffin cells of the neural crest and projecting from the extra-adrenal paraganglia. For more than 30% of patients with paragangliomas there is a genetic predisposition. According to W.H.O. paragangliomas should be treated as potentially metastatic diseases. We describe the case of a patient with a paraganglioma and a pathogenic variant in the SDHB gene.Case Presentati...

ea0101ps3-27-03 | Thyroid and Genetics | ETA2024

Thyroid hormone resistance in an infant harboring a novel de novo mutation of the thrb gene

Sertedaki Amalia , Dolianiti Maria , Sakka Sofia , Siahanidou Soultana , Kanaka-Gantenbein Christina

Introduction: Thyroid Hormone Resistance (THR) is a rare clinical syndrome characterized by impaired end-organ responsiveness to Thyroid Hormone (TH). The cardinal features of this syndrome are elevated serum levels of free THs with normal or high TSH, often with goiter without clear symptoms of thyrotoxicosis. Mutations in the Thyroid Hormone Receptor beta (THRB) gene constitute the most frequent cause of RTH, defined as RTHβ, usually identified in late childhoo...

ea0063p192 | Diabetes, Obesity and Metabolism 1 | ECE2019

Large phenotypic variability of diabetes due to ABCC8 gene mutation illustrated by the paradigm of a family

Koufakis Theocharis , Sertedaki Amalia , Tatsi Elizabeth-Barbara , Trakatelli Christina-Maria , Karras Spyridon , Kanaka-Gantenbein Christina , Kotsa Kalliopi

Background: Monogenic Diabetes is relatively rare, representing only 1–2% of total diabetes cases; nevertheless, it is often misdiagnosed primarily as Type 1 Diabetes, leading to unnecessary insulin therapy and delayed recognition of affected family members.Methods: Case report.Results: We describe a case of a young patient who presented with hyperglycemia in the absence of ketosis and following genetic testing, he proved to h...

ea0073pep8.4 | Presented ePosters 8: Pituitary and Neuroendocrinology | ECE2021

Whole exome sequencing (WES) reveals oligogenic aetiology in a case of combined pituitary hormone deficiency (CPHD)

Sertedaki Amalia , Tatsi Elizabeth , Vassilakis Ioannis Anargyros , Nikaina Eirini , Fylaktou Eirini , Iacovidou Nikoletta , Siahanidou Soultana , Kanaka-Gantenbein Christina

Background CPHD is characterized by GH and at least one other pituitary hormone deficiency. Mutations in genes expressed in the developing head, hypothalamus, and/or pituitary cause CPHD. To date around 30 genes have been identified to be related to CPHD, however 85% of the cases remain with unknown molecular aetiology.Patient and methodsA newborn boy (46, XY) delivered by CS due to IUGR with a birthweight of...