ESPE Abstracts

Background and Objectives: Achondroplasia (ACH) is characterized by severe short stature with a height deficit of approximately 6 SDS below that of average stature. Our objective was to evaluate the impact of height deficit on health-related quality of life (HRQoL) and functional independence in children with ACH.Methods: Height Z-score, HRQoL, and functional independence data were obtained from children with ACH who enr...

Introduction: Vosoritide increases growth in children with achondroplasia aged 5–18 years (Savarirayan et al, Genet Med, 2021). We recently reported results from a phase 2, randomized, double-blind, placebo-controlled study (111-206) in young children with achondroplasia aged 3 months–5 years Here we present results from an open-label extension study (111-208) spanning up to 4 years of treatment in the children aged 2-5 years at study star...

Objective: To evaluate the efficacy of the drug ‘Rastan’, (manufacturer JSC ‘Pharmstandard-Ufa Vita’), in children with GH deficiency at the beginning of treatment at different ages.Materials and methods: We examined two groups of patients with GH deficiency who receive the drug for 3 years. In group 1, nine boys and two girls with age at debut of therapy 5.88±1.35 (from 3.3 to 7.1 years); in the 2nd group of ten boys and two gir...

Background: Pallister-Hall syndrome (PHS) is a rare autosomal dominant disorder characterized by a complex of different abnormalities (polydactyly, bifid epiglottis, hypothalamic hamartoma, imperforate anus). Syndrome is cuased by mutations in the GLI3 gene. PHS is associated with hypopituitarism, early or precocious puberty.Objective: to demonstrate a patient with PHS treated with growth hormone (GH) and gonadotropin re...

Background: Insulin Autoimmune Syndrome (IAS) is a rare cause of hyperinsulinemic hypoglycaemia with only few descriptions in children in the literature. Drugs containing the sulfhydryl group, such as methimazol, are known to be a causative factor of this syndrome. Diazoxide and octreotide are usually ineffective in such patients.Objective: We aim to describe a rare case of IAS in a child, with a good response to a short course of glucocorticoid therapy....

Background: Insulin remains the mainstay treatment for diabetes type 1(T1D), more recently several technological advances have been introduced to assist with the treatment. Continuous Subcutaneous insulin infusion (CSII) devices and continues glycose monitors (CGM) have gained a lot of popularity and are thought to help patients achieve better glycaemic control. HbA1c levels can be used to assess glycaemic control. There are conflicting reports on whether thos...

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...

Background: Growth hormone (GH) deficiency in children, confirmed by stimulation diagnostic tests, in some cases is accompanied by low effectiveness of somatropin replacement therapy, which may be associated with rare genetic syndromes.Aim: To study the growth effects of GH therapy in treating a patient with Floating-Harbor SyndromeMethods: A GH deficiency was diagnosed in a patien...

Objective: to determine risk factors of co-existing thyroid autoimmunity in children with type 1 diabetes mellitus (T1DМ).Material and Methods: 48 children with combined autoimmune pathology (45 – with T1DМ and autoimmune thyroiditis and 3 – with T1DМ and Grave’s disease) – main group, age 12.51±3.57 years) and 99 patients with only T1DM (comparison group, age 11.76±3.05 years) w...

Background: SIDM is not a common complication of high-dose glucocorticoid therapy (HD-GC) in pediatric practice. There are no clear generally accepted approaches to SIDM treatment. In 10 cases, we present the identified patterns of predictors, course, features of the treatment of SIDM in children and adolescents.Methods: 10 case histories of children with SIDM were analyzed. 4 boys, 6 girls, age 8-17.5 years, median 15 y...