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.<...

hrp0097p1-201 | Adrenals and HPA Axis | ESPE2023

Molecular characterization of TNXA/TNXB chimeras in cases carrying deletion of the CYP21A2 gene: High incidence of chimeras identified.

Fylaktou Irene , Mertzanian Anny , Sertedaki Amalia , Kanaka-Gantenbein Christina

Introduction: CAH-X syndrome refers to a subset of Congenital adrenal hyperplasia (CAH) patients who display the hypermobility phenotype of Ehlers–Danlos syndrome (hEDS) due to the monoallelic/biallelic presence of a CYP21A2 deletion extending into the TNXB gene (chimeric TNXA/TNXB gene). To date, three different TNXA/TNXB chimeras have been described, CH-1 (presence of a TNXA-derived 120bp deletion in exon 35 of the <...

hrp0095p1-210 | Adrenals and HPA Axis | ESPE2022

Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency: the correlation of 17-hydroxyprogesterone stimulated concentrations with genotype for the identification of the molecular defect- A study of 526 cases

Fylaktou Irene , Mertzanian Anny , Charmandari Evangelia , Kanaka-Gantenbein Christina , Sertedaki Amalia

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by impairment of one of the enzymes involved in the steroidogenesis pathway. CAH due to 21-hydroxylase deficiency (21-OHD) is attributed to mutations of the CYP21A2 gene and is distinguished into classic [salt wasting (SW), simple virilizing (SV)] and non-classic form. Herein we present a) the genetic investigation of 526 subjects with suspicion of 21-OHD in t...

hrp0095p1-455 | Diabetes and Insulin | ESPE2022

An Adolescent with HNF1B Deletion. A Case Report

Vourdoumpa Aikaterini , Koutaki Diamanto , Vasilakis Ioannis-Anargyros , Bacopoulou Ioanna , Sertedaki Amalia , Charmandari Evangelia , Paltoglou George

Introduction: Mutations in hepatocyte nuclear factor 1Β (HNF1B) gene (chromosome 17q12), lead to monogenic diabetes (HNF1B-MODY or MODY5, OMIM 137920) accompanied by multisystem disorders. HNF1B gene encodes HNF1B protein, a member of the homeodomain-containing superfamily of transcription factors, expressed early in embryogenesis, contributing significantly to organogenesis and the function of many systems (kidneys, liver, panc...