ESPE Abstracts

Background: Pseudohypoparathyroidism is a group of rare disorders characterized by tissue insensitivity to PTH and Albright hereditary osteodystrophy (AHO) due to inactivating mutations or epigenetic defects of the GNAS.Objective and hypotheses: Clinical features and molecular characteristics of patients with PHP have been examined.Method: We included 28 patients from 26 families with PHP1a and 1b. GNAS mutation analysis w...

Background: 80–85% of cases of congenital hypothyroidism (CH) are shown to be due to thyroid dysgenesis, while 15–20% are due to dyshormonogenesis. At least 12 candidate genes are associated with congenital hypothyroidism (CH), however its molecular basis is defined in fewer than 10% of the patients (ESPE consensus, 2014). Recent studies suggest that using a next generation sequencing (NGS) approach may increase the mutation yield in CH.Objecti...

Background: PROP-1 gene mutations are responsible for most of the cases of multiple pituitary hormone deficiencies (MPHD).Objective and hypotheses: We performed to evaluate the final adult height (FAH) in a group of patients with a PROP-1 gene mutations. Twenty-five patients (11 males) with a PROP-1 gene mutation, not treated before, were recruited. All the patients had been treated with a fixed rhGH dose (0.033 mg/kg per day) for 10.5 years (7.0–11...

Introduction: Deficiency of growth hormone (GH) in children is manifested by pronounced stunting (below -2 sigmal abnormalities (SD)). Frequency of occurrence varies from 1:4000 to 1:10000 newborns.Objective: To assess the effectiveness of treatment by comparing the dynamics of growth of children with isolated growth hormone deficiency (IGHD) and of children with panhypopituitarism (PHP).Ma...

Introduction: Congenital adrenal hyperplasia (CAH) is a disease characterized by a defect in one of steroidogenic enzymes or the gene encoding the transport proteins. Frequency of occurrence is 1: 14000 newborns.Objective: To determine the age, clinical manifestations, the incidence and the effectiveness of treatment various forms CAH in children.Materials: Medical History of 35 patients aged from ...

Type 1 diabetes is one of the common chronic diseases of children’s age. In recent years there is an increase in the rate of primary morbidity of 1 type diabetes in children with a displacement of peak manifestation for age 5-9 years. Medical History of 110 patients aged from 0.5 to 18 years diagnosed with 1 type diabetes have been analyzed in the Republican Center for Pediatric Endocrinology with a division into comparison group (2018- 2019) and control group (2020). Com...

Background: Kearns – Sayre syndrome (KSS) is a rare mitochondropathy. Among chronic progressive external opthalmoplegia, pigmentary retinal degeneration and ataxia that are present in most patients before age of 20 years, a significant proportion of patients also have various endocrine deficiencies.Case report: We report on a previously healthy boy who presented at the age of 8 years to the endocrine clinic due to ...

Background: Carbonic anhydrase II (CAII) deficiency is extremely rare (<1:1 000 000) autosomal recessive disease, which is characterized by the triad of osteopetrosis, basal ganglia calcifications and renal tubular acidosis. In addition short stature, facial dysmorfism and different degree of mental retardation are possible features. Different mutations of the gene for CAII on 8q21.2 lead to impaired enzyme activity and typical clinical, biochemical and imaging manifestati...

Background and aim: Pregnancy with diabetes mellitus is associated with obstetric and neonatal complications, including the development of fetal macrosomia. Fetal macrosomia of diabetic origin is characterized by a disproportionate distribution of subcutaneous fat with predominant localization in the upper half of the fetus body. The cause of excess fetal growth is maternal hyperglycemia, regardless of the type of diabetes in the mother. The aim of study was t...

Introduction: in countries with highly developed health information systems (HIS), early detection of short stature (SS) is facilitated by automated anthropometric calculations, with warning alarms and automated referrals when prespecified conditions are met (poor growth velocity etc.). In countries where available HIS resources are insufficient for implementation of complex automated systems for growth supervision, much simpler, graphical-based growth electro...