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...

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...

hrp0086p1-p12 | Adrenal P1 | ESPE2016

Testicular Adrenal Rest Tumours in 50 Boys, Adolescents and Adult Male with Congenital Adrenal Hyperplasia

Dumic Miroslav , Duspara Vlatko , Grubic Zorana , Kralik-Oguic Sasa , Skrabic Veselin , Kusec Vesna

Background: Testicular adrenal rest tumours (TART) are common cause of infertility in males with congenital adrenal hyperplasia (CAH).Objective and hypotheses: Aim was to assess TART frequency and their impact on gonadal function in 46 children, adolescents and adult male patients with 21-hydroxylase deficiency (21-OHD) (24 salt wasting (SW), 14 simple vilirilizing, eight nonclassical) and four with 11-hydroxylase deficiency (11-OHD).<p class="abstex...

hrp0082p2-d2-270 | Adrenals &amp; HP Axis (1) | ESPE2014

Osteoporosis in Triple A Syndrome: an Overlooked Symptom of Unexplained Etiolaogy

Dumic Miroslav , Rojnic Putarek Natasa , Kusec Vesna , Barisic Nina , Koehler Katrin , Huebner Angela

Background: Triple A syndrome (alacrima, achalasia, adrenal failure, progressive neurodegenerative disease) is caused by mutations in the AAAS gene which encodes the protein ALADIN. Osteoporosis seems to be an overlooked symptom in triple A syndrome.Objective and hypotheses: To evaluate etiology of osteoporosis in six male and four female patients with triple A syndrome.Method: X-ray, dual X-absorptiometry (DXA) of the lum...

hrp0084p2-174 | Adrenals | ESPE2015

Clinical, Biochemical and Molecular Characteristics of the Patients with Nonclassical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Croatia

Dumic Miroslav , Krnic Nevena , Kusec Vesna , Grubic Zorana , Stingl Katarina , Yuen Tony , Kubat Katja Dumic , Skrabic Veselin , New Maria I

Background: Nonclassical congenital adrenal hyperplasia (NCCAH) due to mild 21-hydroxylase deficiency is caused by mutations of the CYP21A2 gene located on chromosome 6p21.3.Objective and hypotheses: To determine cut-off for basal and stimulated 17-hydroxyprogesterone (17-OHP) levels, to evaluate CYP21A2 gene mutations frequency among Croatian NCCAH patients, to determine correlation between 17-OHP levels and genotype and to evaluate co...

hrp0084p3-630 | Autoimmune | ESPE2015

CTLA4 A49G and C60T Genetic Polymorphism in Croatian Children and Young Adults with Autoimmune Thyroid Disease

Putarek Natasa Rojnic , Kusec Vesna , Grubic Zorana , Knezevic-Cuca Jadranka , Ille Jasenka , Stajnkler Biserka , Jaksic Bruna , Dumic Miroslav

Background: Autoimmune thyroid disease (AITD), including autoimmune thyroiditis (AT) and Graves’ disease (GD), is a complex autoimmune disease with a strong genetic component. The cytotoxic product of T-lymphocyte antigen-4 (CTLA4) gene, encoding a negative regulator of the T-lymphocyte immune response, was shown to be associated to AITD.Objective and hypotheses: To investigate the association of A49G and C60T polymorphisms of CTLA4 gene in populati...

hrp0086p1-p190 | Diabetes P1 | ESPE2016

The Association of HLA Class II, CTLA-4 and PTPN22 Genetic Polymorphisms and β-Cell Autoantibodies in Development of Type I Diabetes in Patients with Autoimmune Thyroid Disease

Putarek Natasa Rojnic , Grubic Zorana , Grcevic Danka , Kusec Vesna , Knezevic-Cuca Jadranka , Krnic Nevena , Uroic Anita Spehar , Baretic Maja , Dumic Miroslav

Background: Co-occurrence of type 1 diabetes (T1D) and autoimmune thyroid disease (AITD) denote variant of autoimmune polyglandular syndrome type 3 (APS3v). Thyroid autoimmunity in T1D was widely studied, but a few studies examined β-cell autoimmunity among AITD patients. Several susceptibility genes for APS3v have been identified: HLA class II, CTLA-4 and PTPN22 gene.Objective and hypotheses: To investigate β-cell autoimmunity and genetic poly...