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...

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...