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: 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...

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: 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...

Background: Increasing prevalence of obesity requires improvement in current therapeutic approaches. Multidisciplinary lifestyle intervention programs involving both children and their parents are showing promising results.Aim: To compare the efficacy of family-based multidisciplinary program with standard weight loss counseling program in obese children.Methods: The intervention group consisted of 119 obese children with BMI 85 kg...

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...

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...

Background: Boys with PWS often have unilateral or bilateral cryptorchidism. Prospective studies on the treatment of cryptorchidism in boys with PWS are lacking and there is no treatment consensus among pediatricians and urologists.Objective and hypotheses: We hypothesized that hCG treatment would lead to a scrotal position of the testes in infants with PWS and cryptorchidism. We therefore evaluated the effects of hCG treatment on testis position. Additi...