ESPE Abstracts

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED, OMIM240300) is a rare monogenic disease due to biallelic mutations in the Autoimmune Regulator (AIRE) gene. This encodes for a thymus-enriched transcription factor responsible for central immune tolerance. Classic diagnostic criteria are the presence of two of main symptoms of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and Addison’s disease (AD). Non-endocrine autoimmun...

We report a case of a 10-year-old girl born at 41st week and spontaneous birth, in therapy with analogous GnRH for idiopathic central puberty. At 4 years bilateral thelarche, performed first and second level investigations and recives diagnosis of early idiopathic central puberty. Since then, therapy with triptorelin 3.75 mg i.m every 21 days was administrated. Regular checks, good compliance, and response to therapy. At 10 years old recurring episodes of headache and vertigo....

Introduction: Peripubertal children with delayed puberty frequently display a poor growth rate prompting endocrine work-up. Whether priming with sex steroids should routinely be performed in these patients to improve specificity of growth hormone stimulation tests (GHST) is unclear. Treatment with sex steroids in constitutional delay of growth and puberty (CDGP) is also debated.Patients and Methods: This multicenter retr...

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...