ESPE Abstracts

Objective: To study clinical and laboratory characteristics of patients with disorders of sex development (DSD) 45,X/46,XY and 46,XY, partial gonadal dysgenesis.Subjects and Methods: It was included 27 patients with disorders of gonadal dysgenesis at birth to 9 years, which were divided into groups based on cytogenetic survey – DSD 46,XY, partial gonadal dysgenesis (n=10) and DSD 45,X/46,XY (n&...

The purpose of this study is to determine the frequency of occurrence and molecular-genetic characteristics of MODY in patients with diabetes mellitus aged 1 to 18 years, residents of St. Petersburg.Materials and methods: In St. Petersburg in 2017, there were 1620 patients with diabetes mellitus under the age of 18 years. 54 of them had evidence of hereditary variants of diabetes with chronic hyperglycemia at normal c-peptide indices for 2 years after th...

Background: Data on metabolic effects of gonadotropin-releasing hormone agonist (GnRHa) therapy are still controversial.Objective and hypotheses: To longitudinally evaluate the effect of GnRHa therapy on BMI, glycaemic metabolism and lipid profile in children affected by idiopathic central precocious puberty (CPP).Method: This longitudinal retrospective study included data from 42 children (7.70±0.80 years, 2 males) affected b...

Introduction: PMM2-CDG is the most common congenital disorder of glycosylation (CDG). Since glycoproteins are involved in every endocrine axis, PMM2-CDG patients have a high risk of developing endocrinopathies.Case report: We describe two 12 years-old female PMM2-CDG patients with severe short stature and no clinical sign of puberty. One patient showed low serum levels of insulin-like growth factor-1 (IGF-1) and IGF bind...

Background: STAT1 mutations can cause an extensive spectrum of disease, varying from severe bacterial and viral infections to mild disseminated mycobacterial disease, also chronic mucocutaneous candidiasis. Many patients present with autoimmune manifestations as type 1 diabetes, hypothyroidism and systemic lupus erythematosus. There are risks of cancers and cerebral aneurysms.Aim: To present the clinical manifes...

Background: According to the World Health Organization, the social determinants of health, the conditions in which people are born, grow, live and work – significantly influences on health. The CAF Foundation, the Endocrinology Scientific Center and the Institute for Family Health under the Alfa-Endo Program studied prevalence of some social determinants in families of children with type 1 diabetes mellitus.Objective and hypotheses: Investigate soci...

Background: The diagnosis of GH deficiency (GHD) is not straightforward in childhood and adolescence, requiring comprehensive clinical, anthropometric, biochemical, endocrine, and neuroradiological assessment. Although pharmacological GH stimulation tests are still considered the gold standard for GHD diagnosis, they are burdened by both poor specificity and side effects. Several studies have addressed the issue of sensitivity and specificity of IGFBP-3 assess...

Background: In hypogonadotropic hypogonadism (HH), hypophyseal follicle-stimulating and luteinizing hormones, normally released with GnRH stimulation, are detected low. Since kisspeptin (KP) is a strong stimulant of GnRH neurons, it is considered to have a role in HH aetiology. It may be hypothesized that abnormal plasma levels of KP are indicative of HH.Aim: Evaluation and comparison of plasma KP levels in boys of pre-p...

Background: In diabetic patients vitamin D seems to play a role not only on bone metabolism, but also on many other organs and/or systems, such as lipid profile, cardiovascular system, etc. We decided to evaluate whether the celiac disease antibodies in type 1 diabetic patients have a connection with 25-OH vitamin D status.Materials and Methods: 78 young patients with type 1 diabetes were evaluated with mean age of 14&#1...

Background: Masculinisation tempo on sex-steroid replacement in boys with multiple pituitary hormone deficiencies (MPHD) and pubertal growth spurts on adequate GH-treatment regimens were unknown in 1989 and are still not optimal.Objective and Hypotheses: A hypothesis driven prototype trial1,2 was initiated in the late 80ies aiming to mimic normal puberty3 regarding both degree and tempo of masculini...