hrp0095p2-5 | Adrenals and HPA Axis | ESPE2022

Prevalence and genotype of 21-hydroxylase deficiency in Croatian Romani population

Dumic Kubat Katja , Grubic Zorana , Kusec Vesna , Braovac Duje , Gotovac Kristina , Vinkovic Maja , Dumic Miroslav

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...

hrp0095p2-61 | Diabetes and Insulin | ESPE2022

Ketoacidosis and Age Distribution in New-Onset Type 1 Diabetes During Covid-19 Pandemic

Vinkovic Maja , Krnic Nevena , Bogdanic Ana , Dumic Kubat Katja , Braovac Duje , Spehar Uroic Anita

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...

hrp0095p2-188 | Growth and Syndromes | ESPE2022

Kearns-Sayre syndrome – a rare cause of growth hormone deficiency

Braovac Duje , Vinkovic Maja , Krnic Nevena , Lehman Ivan , Jovanovic Ivan , Matkovic Hana , Dumic Kubat Katja

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 ...

hrp0092p2-179 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Unusual Case of Patient with Klinefelter Syndrome with Shox Deletion Born to the Mother with Leri-weill Dyschondrosteosis

Krnic Nevena , Huljev Frkovic Sanda , Dumic Kubat Katja , Braovac Duje , Uroic Anita Spehar

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...