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 ...

hrp0092p2-10 | Adrenals and HPA Axis | ESPE2019

Functional Adrenocortical Oncocytoma – a Rare Cause of Progressive Virilization and Secondary Amenorrhea

Dumic Kubat Katja , Kusec Vesna , Uroic Anita Spehar , Vinkovic Maja , Krnic Nevena

Introduction: Oncocytomas are rare epithelial tumors that can be found in various tissues such as kidney, salivary and endocrine glands. Adrenocortical oncocytomas (AON) are very rare tumors with around 160 patients described in the literature. Generally they are regarded as benign and mostly hormonally nonfunctional. When hormonally active, these tumors produce adrenal steroids resulting in various clinical presentations such as virilization, feminization, an...