ESPE Abstracts

Background: Partial androgen insensitivity syndrome (PAIS) typically presents with micropenis, penoscrotal hypospadias, bifid scrotum with descending or undescending testes and gynecomastia. It is x-linked recessive disease resulting from mutations in androgen receptor (AR) gene.Objective and hypothesis: To present clinical characteristics of a novel mutation in the AR gene in an adolescent boy with PAIS who presented with gynecomastia ...

Objective: To determine the prevalences of goitre and thyroid nodule, and to analyse the associations among age, gender, anthropometrics and thyroid volume in school children.Materials and method: Schools governed by Ministry of Education in Van province were included into the study. Sonographic evaluations of thyroid glands were performed in children aged 6–17 years, and weight, height, waist circumference, hip circumference, and skinfold thickness...

Introduction: Parathormone-related peptide (PTHrP) regulates tissue calcium concentration by acting in paracrine or autocrine ways. It is mostly responsible for paraneoplastic hypercalcemia seen in adults. Paraneoplastic hypercalcemia in children is rarely reported in cancers such as ALL, medulloblastoma and hepatoblastoma (0.4–0.7%). In experimental studies, PTHrP is shown to be synthesized apart from neoplastic tissue (glomerulus and tubule cells).<p class="abstext"...

Background: Euthyroid sick syndrome (ESS), also known as non-thyroidal illness or low T3 syndrome, is defined as low T3, low/normal T4 and inability of rise in TSH due to extrathyroidal diseases. Any condition resulting stress such as infectious diseases, sepsis, metabolic disorders and severe malnutrition can associate to ESS. Patients presented with type 1 diabetes mellitus (T1DM) are usually being screened for other autoimmune diseases inclu...

Background and objective: The first and rate-limiting step of steroidogenesis is the conversion of cholesterol to pregnanolone which is catalyzed by the P450scc side chain cleavage enzyme (encoded by CYP11A1 gene-SCC). Homozygous recessive mutations of the CYP11A1 gene cause a global steroid hormone deficiency thereby disorders of sexual development in 46, XY individuals with a variable phenotype depending on the mutation characteristics. About 60 cases of SCC...

Background: Assessment of beta-cell function in type 1 diabetes (T1D) has important implications in both clinical and research settings. Studies are limited by the lack of adjustments demonstrating the extent to which puberty influences C-peptide levels. The aim of this study was to evaluate the influence of pubertal stage as well as age and body mass index (BMI) on multiple C-peptide measures at T1D diagnosis.Methods: T...

Aim: To describe the clinical pattern and laboratory characteristics at presentation of a group of children with type 1 diabetes mellitus living in the Northwest region (Trakya) of Turkey.Methods: The clinical and laboratory data of a total of 315 children who presented with newly diagnosed type 1 diabetes mellitus during a 12 year period (2006–2018) were retrospectively analyzed based on hospital records. The data were assessed by gender and age su...

Backround: Short stature (SS) is one of the common disorders referred for investigation of an endocrine disorder. The etiologies of SS vary and are commonly grouped into pathological and nonpathological disorders. Despite standard clinical and laboratory evaluation, a pathological diagnosis is not reached in 50–90% cases.Aim: The aim of this study was to determine the etiologies and decribe the characteristic of short stature patients who were follo...

Background: Gitelmann syndrome, a rare autosomal recessive disorder, is characterised with hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Mutations in the SLC12A3 gene, which encodes for ‘Thiazid sensitive sodium chloride co-transporter channels’ located at the renal distal convoluted tubules account for the underlying molecular mechanism of Gitelmann syndrome. Although, is less frequent than those seen in ‘Bartter Syndrome’, the exact m...

17 alpha hydroxylase, 17–20 lyase deficiency is an autosomal recessive inherited congenital adrenal hyperplasia type which is due to mutation in CYP17A1 gene and characterized with adrenal and gonadal sex steroid deficiency, delayed puberty in girls, XY sex development disorder in boys and hypergonadotrophic hypogonadism in both gender.Case: 15 year old girl referred to our clinic with vomiting, fatigue and muscle spasms. In her physical examination...