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...

hrp0092p1-118 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Whole Exome Sequencing (WES) Reveals Oligogenic Gene Mutations in a Case of Combined Pituitary Hormone Deficiency (CPHD)

Sertedaki Amalia , Tatsi Elizabeth-Barbara , Nikaina Eirini , Vasilakis Ioannis Anargyros , Fylaktou Irene , Iacovidou Nicoletta , Siahanidou Soultana , Kanaka-Gantenbein Christina

Introduction: 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 the 85% of the cases remain with unknown aetiology. Whole Exome Sequencing (WES) enables parallel searching for pathogenic variants of CPHD in targeted known gene panels as well as the identifi...

hrp0097p1-434 | Diabetes and Insulin | ESPE2023

Monogenic Diabetes gene variants in 323 Greek MODY patients: Targeted NGS increases diagnostic accuracy and allows identification of rare MODY subtypes.

Mertzanian Anny , Sertedaki Amalia , Fylaktou Irene , Binou Maria , Dolianiti Maria , Nikolaides Nikolas , Anargyros Vasilakis Ioannis , Kanana-Gantenbein Christina

Introduction: Maturity Onset Diabetes of the Young (MODY) is clinically and genetically heterogeneous type of Monogenic Diabetes (MD) and to date 14 genes have been associated with different MODY subtypes. It is a rare disease characterized by early onset hyperglycemia, autosomal dominant inheritance, and defect in β cell insulin secretion, often misclassified as T1DM or T2DM.Materials and Methods: Genetic analysis ...