ESPE Abstracts

Background: Carotenoids are potent antioxidants that affect many different metabolic processes. In plasma, carotenoids are transported with lipoproteins. Growth hormone deficiency (GHD) is known to induce oxidative stress and deterioration in the lipid profile, which can change the level and composition of carotenoids. Particularly interesting to measure these parameters in GHD children.Objective and hypotheses: The aim of this study is to examine the am...

Introduction: Two-stage surgical feminization is a part of the multidisciplinary rehabilitation of girls with external genital virilization. The first stage involves clitoroplasty and labioplasty with preservation of urogenital sinus (US) in girls with third degree of virilization according to Prader classification and higher. US eliminating is performed by second stage in the puberty. Persistence US may cause dysfunction of urodynamics and infections of the l...

Abstract: The development of endocrine disorders after complex treatment of medulloblastoma is out of doubt. Much less attention is paid to the study of metabolic changes in the outcome of treatment. In our clinic, we examined 63 patients (40 males/23 females) after the complex therapy of medulloblastoma (surgery, craniospinal radiation therapy and chemotherapy). Patients had a median age (range) of 11.3 (5.5÷17.9) years. They were treated for medulloblas...

Introduction: Female hypospadias (FH) is one of disorders of sex development signs (DSD). Short and wide urethra that opens into the vagina predisposes to occurrence of recurrent infection of urinary tract, vaginal voiding and postoperative narrowing of artificial vaginal introitus (AVI).Aim: Improve the results of correction FH with stenosis AVI using reintroitoplasty separating the urinary and genital tracts in patients with DSD....

Background: Disorders of sex development, especially with Y chromosome material, are the main factor of an increased risk of gonadal tumour. The main idea of this study was to investigate the prevalence of gonad tumours in patients with 46,XY gonadal dysgenesis.Methods: This study included 9 patients with 46,XY gonadal dysgenesis: seven patients with partial and two with total gonadal dysgenesis. Among nine patients there were two patients with Frasier s...

Background: Diamond–Blackfan anemia (DBA) is an inherited bone marrow failure syndrome, which presents with anemia in early infancy. Survival depends on blood transfusions, which in consequence lead to iron overload (IOL). The most common complications of IOL are hepatic cirrhosis, endocrinopathies and cardiomyopathy.Results: We present the case of 17 years old girl with DBA and IOL-associated endocrinopathies. Her treatment consists of multiple blo...

Background: Among the currently known variants of maturity-onset diabetes of the young (MODY) subtypes 1–3 are the most prevalent, while their relative frequencies vary in different populations. Other types of MODY are more rare, although the studies addressing their prevalences are limited. Recent implementation of next-generation sequencing (NGS) enables simultaneos analysis of multiple candidate genes making it an attracive approach in various monogenic disorders, incl...

Background: 46,XY Complete Gonadal Dysgenesis (Swyer Syndrome) is a rare cause for DSD with incidence ≈1:80000. It is characterised by defective formation of the gonads as a result of structural anomalies in the sex chromosomes or mutations in specific genes. In 20% of the patients deletion/mutation in SRY can be found. Mutations, deletions or duplications in other genes (NRD5A1, DHH, DAX1, WNT4, DMRT, etc.) are also reported. The phenotype is completely female and the d...

Background: Objective and hypotheses: Rate the frequency and structure of post-operative complications of thyroidectomy in children with nodular goiter.Method: Twenty-seven children, 20 girls (14.5±3.64 years) and seven boys (14.68±4.09 years), which were performed thyroidectomy about multinodular goiter (n=23) and single-node goiter (n=4) from 2003 to 2015. Were evaluated complaints of patients, physica...

Background: Insulinomas are extremely rare tumors in children and an uncommon first manifestation of the MEN1 syndrome. An early clinical and genetic diagnosis is very important for the appropriate medical assessment and family counseling. In children, insulinomas are usually benign tumors with only a few reports of malignant cases.Objective and hypotheses: To investigate clinical features, genetic and morphological characteristics of 12 children with pr...