ESPE Abstracts

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 <...

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...

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...

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 ...