hrp0086p2-p320 | Diabetes P2 | ESPE2016

Hyperglycaemia in a Boy of 13 years old: Not always Type 1 Diabetes Mellitus. A Case Report

Karabouta Zacharoula , Sertedaki Amalia

Background: Type 1 diabetes (T1D), the most frequent type of diabetes in paediatrics, can be easily misdiagnosed presenting with hyperglycaemia due to monogenic diabetes. Objective and hypotheses: We report a 13-year-old boy with monogenic diabetes, initially diagnosed and treated as T1D.Method: The patient presented at 7.5 years of age with a febrile illness and mild hyperglycaemia. An oral glucose tolerance test (OGTT) then was normal,...

hrp0086p1-p5 | Adrenal P1 | ESPE2016

Whole Exome Sequencing in Patients with Primary Generalized Glucocorticoid Resistance, who did not have Mutations in the NR3C1 Gene

Sertedaki Amalia , Polyzos Alexandros , Nicolaides Nicolas , Thanos Dimitris , Charmandari Evangelia

Background: Primary generalized glucocorticoid resistance (PGGR) is a rare, familial or sporadic condition, characterized by generalized, partial tissue insensitivity to glucocorticoids. The molecular basis of this condition has been ascribed to mutations in the NR3C1 (human glucocorticoid receptor, hGR) gene, which impair the molecular mechanisms of hGR action and decrease tissue sensitivity to glucocorticoids. However, a considerable number of patients with PGGR do ...

hrp0082p3-d2-891 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

A Novel Mutation in the NR3C2 Gene Causing Pseudohypoaldosteronism Type 1

Sertedaki Amalia , Kanaka-Gantenbein Christina , Chrousos George P

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disease characterized by mineralocorticoid resistance with subsequent salt wasting, hyperkalemia, metabolic acidosis, and elevated plasma renin and aldosterone levels.Patients and methods: We report a male newborn that presented with failure to thrive and sustained hyponatremia during his early postnatal period. He was conceived after IVF (twin pregnancy) and prematurely born by cesare...

hrp0084p2-187 | Adrenals | ESPE2015

A Large Family with a Novel Mutation in the SCNN1A Gene Causing a Mild and Transient form of Autosomal Recessive Pseudohypoaldosteronism Type 1 (PHA1)

Efthymiadou Alexandra , Sertedaki Amalia , Chrousos George , Chrysis Dionisios

Background: PHA1 is a rare inherited disease characterized by resistance to aldosterone action and distinguished in two forms: the autosomal dominant renal form caused by mutations of the NR3C2 gene (MR) and the autosomal recessive systemic form caused by mutations of the subunit genes SCNN1A, SCNN1B, SCNN1G of the epithelial sodium channel (ENaC). The classic phenotype of the autosomal recessive form of PHA1 is usually severe, lifelong, and expressed with mu...

hrp0084p3-614 | Adrenals | ESPE2015

Late Diagnosis of Childhood Adrenal Insufficiency and Hypogonadotropic Hypogonadism due to DAX 1 Gene Mutation

Karantza Maria , Bogris Sotirios , Chrousos George , Sertedaki Amalia

Background: DAX-1 mutation is a rare genetic cause of adrenal insufficiency also causing hypogonadotropic hypogonadism.Case presentation: The patient was born to a G1P1 mother. At the age of 1 month he developed acidosis, hyponatremia, hyperkalemia, diagnosed with congenital adrenal hyperplasia and started on hydrocortisone and fludrocortisone. No CYP 21 mutation was identified, fludrocortisone was continued for presumed hypoaldosteronism, hydrocortisone...

hrp0094p2-37 | Adrenals and HPA Axis | ESPE2021

Congenital Adrenal Hyperplasia caused by compound heterozygosity of two novel CYP11B1gene variants.

Fylaktou Eirini , Smyrnaki Smyrnaki Penelope , Sertedaki Amalia , Kanaka-Gantenbein Christina ,

Introduction: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder caused by pathogenic variants in seven genes involved in the cortisol and aldosterone biosynthetic pathway. The second most common cause of CAH, 11β-hydroxylase deficiency (11βOHD), is attributed to pathogenic variants in the CYP11B1gene encoding for the enzyme 11β-hydroxylase (11βOH).Case presentation: A thirteen-year-old g...

hrp0094p2-158 | Diabetes and insulin | ESPE2021

A novel variant HNF1A gene (HNF1A-MODY) in a patient presenting with hyperglycaemia and glycosuria

Bisbinas Vasiliki , Sertedaki Amalia , Giannopoulos Andreas , Karabouta Zacharoula ,

Introduction: HNF1A-MODY (MODY3) is a common subtype of the Maturity Onset Diabetes of the Young (MODY), a monogenic autosomal dominant disease presenting as a nonketotic diabetes with onset usually during adolescence, or early adulthood. HNF1A-MODY is less common among children as the hyperglycaemia usually manifests after 10th year of life.Aim: We describe a young girl presented with hyperglycaemia and glysosuria.<...

hrp0092fc1.3 | Diabetes and Insulin Session 1 | ESPE2019

Next Generation Sequencing in Greek MODY Patients Increases Diagnostic Accuracy and Reveals a High Percentage of MODY12 Cases

Tatsi Elizabeth-Barbara , Sertedaki Amalia , Skorilas Andreas , Chrousos George , Kanaka-Gantenbein Christina

Introduction: 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, 14 different MODY subtypes have been reported, each one with a distinct genetic etiology.Materials and Methods: We designed a NGS TGP of seven ...

hrp0089fc1.4 | Adrenals &amp; HPA Axis | ESPE2018

Whole Exome Sequencing in Patients with Primary Generalized Glucocorticoid Resistance Identifies a Novel TRIM28 Gene Mutation (p.R230X)

Sertedaki Amalia , Marinakis Nikos , Nicolaides Nicolas C. , Crousos George , Charmandari Evangelia

Introduction: Primary Generalized Glucocorticoid Resistance or Chrousos syndrome (CS) is a rare sporadic or familial disorder characterized by generalized, partial tissue insensitivity to glucocorticoids. Mutations of the NR3C1 gene, which encodes the human glucocorticoid receptor, have been identified in many but not all patients with CS.Objective: To identify novel genes related to CS in patients without NR3C1 gene mutations.<p cl...

hrp0089p1-p022 | Adrenals and HPA Axis P1 | ESPE2018

A Large Consanguineous Family with a Mild and Transient form of Autosomal Recessive Pseudohypoaldosteronism type 1 (PHA1) Caused by a Novel Mutation in the SCNN1A Gene: Functional Studies

Efthymiadou Alexandra , Gautschi I , vanBemmelen MX , Sertedaki Amalia , Chrousos George , Schild Laurent , Chrysis Dionisios

Background: PHA1 is a rare inherited disease characterized by resistance to aldosterone action and distinguished in two forms: the autosomal dominant renal form caused by mutations of the NR3C2 gene (MR) and the autosomal recessive systemic form caused by mutations of the subunit genes SCNN1A, SCNN1B, SCNN1G of the epithelial sodium channel (ENaC). The classic phenotype of the autosomal recessive form of PHA1 is usually severe, lifelong, and expressed with mu...