ESPE Abstracts

Objective: Clustering of rare diseases and private founder mutations is a common phenomenon in many founder populations such as Romani. Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is a rare autosomal recessive disorder caused by mutations in the CYP21A2 gene. The aim of the study was to estimate the prevalence of 21-OHD and the frequency of particular CYP21A2 gene mutations in the Croatian Romani population. Methods. Data f...

Background:There are numerous reports indicating increased risk of diabetic ketoacidosis (DKA) in new-onset type 1 diabetes (T1D) in childhood during COVID-19 pandemic. Delayed diagnosis, reduced access to immediate health care and psychological effects of pandemic have been suggested as possible reasons.Methods: We conducted cross sectional, single-center study at Department of Pediatrics, University Hospital Center Zag...

Background: Kearns – Sayre syndrome (KSS) is a rare mitochondropathy. Among chronic progressive external opthalmoplegia, pigmentary retinal degeneration and ataxia that are present in most patients before age of 20 years, a significant proportion of patients also have various endocrine deficiencies.Case report: We report on a previously healthy boy who presented at the age of 8 years to the endocrine clinic due to ...

Introduction: Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans. About 80% of KS patients have 47,XXY karyotype, while rest of the patients can have mosaicism or other numeric or structural sex chromosome abnormalities. Tall stature is one of the hallmarks of KS and it is thought to be due to supernumerary X chromosome leading to SHOX gene overdosage. Deletion of SHOX gene, on the contrary, has been r...

Background: Type 1 diabetes (T1D), as one of the most common chronic autoimmune diseases, can have significant negative impact on pubertal development and overall reproductive health. Girls with T1D have been reported with delayed onset of menarche, in relation to premenarchal onset of T1D, inadequate metabolic control, insulin dosage, and duration of diabetes.Methods: We conducted a retrospective cross-sectional single-...

Introduction: Single, large scale mitochondrial DNA (mtDNA) deletions (SLSMDs) comprise clinically heterogeneous group of rare and progressive multisystem disorders. Diverse initial symptoms, evolving and overlapping phenotype together with genetic heterogeneity pose a major challenge in diagnosis and treatment. We report on a young girl with SLSMD who presented with unique constellation of initial symptoms including diabetes mellitus (DM), macrocytosis, and s...