ESPE Abstracts

Background: Congenital primary hypothyreoidism occurs in about 1 of 3 600 life births and is usually detected with newborn screening. Early levothyroxine treatment is the prerequisite for normal psychomotor development of affected children. However, patients suffering from congenital central hypothyroidism are missed by the screening procedure, which may lead to delayed diagnosis and therapy. In very rare cases central hypothyroidism is caused by isolated TSH deficiency due to...

Background: Pseudohypoparathypoidism (PHP) type 1A is a rare endocrine disorders caused by GNAS mutation. Patients phenotype with PHP type 1A include obesity, round facies, brachydactyly, subcutaneous ossifications, short stature. The resistance of action of parathyroid hormone (PTH) leads to hyperphosphatemia, hypocalcaemia and secondary hyperparathyroidism. Hypercalcitoninaemia has been described in limited patients with PHP without thyroid patholog...

A 15y10m boy was presented to our hospital (in March 2017) with the complaints of acute, severe, continuous, burning pain affecting soles and both legs, insomnia, loss of body weight and appetite. He described his pain as stabbing and burning. He also perceived contact with bed clothing, socks, shoes or floor as causing extreme discomfort. He could barely move out of bed. He had no symptoms in hands or any other neurological complaints. An. Morbi: type 1 diabetes was diagnosed...

Thyroid carcinoma in pediatric patients usually manifests as an asymptomatic neck mass, with a reported incidence of cervical lymphadenopathy that ranges from 35-83%.Multifocal involvement of the thyroid gland is a well-recognized feature of papillary carcinoma. The reported frequency is about 20%, with wide variations depending on the extent of the sampling and reporting by the pathologistA 12 year old boy presented with t...

Background: Hypothalamic hamartomas (HH) are rare non-progressive brain tumor malformations that occur early during brain development. Most of the cases are sporadic and nonsyndromic. Variation in size and location of the hamartoma within the hypothalamic region is not always associated with the severity of the clinical presentation. A wide range of symptoms could occur - from nonsymptomatic to severely affected cases that include seizures (mostly gelastic), behavioral difficu...

Background: Polycystic ovary syndrome (PCOS) is associated with metabolic abnormalities and increased insulin resistance (IR), which is closely associated with abdominal obesity and hyperandrogenism in adults. Some studies indicate that hyperandrogenism influences insulin resistance development in PCOS patients. Data on PCOS association with risks of metabolic disorders in adolescence are scars.Objectives: In this study we aimed to investigate androgen p...

Background: Iodine deficiency has multiple adverse effects in humans, termed iodine deficiency disorders, due to inadequate thyroid hormone production. Iodine deficiency during pregnancy and infancy may impair growth and neurodevelopment of the off-spring and increase infant mortality.Objectives: To evaluate effects of iodine supplementation in pregnant, lactating women and their infants at the East of Ukraine.Methods: Target group...

Introduction: A natiowide screening for Congenital Hypothyroidism (CH) was introduced 1996 in Russian Federation and Saratov Region. Revelation of the incidence of CH is of great value at the background of moderate iodine deficiency existing in Saratov and Saratov Region. Neonatal screening is an effective method for early detection of congenital hypothyroidism, a disorder that requires the prompt initiation of the treatment, in order to prevent the subsequent...

Viral infections may increase the risk of developing type 1 diabetes (T1D), and recent reports suggest that Coronavirus Disease 2019 (COVID-19) might have increased the incidence of pediatric T1D (M. Rahmati et al., 2022). In general, the course of viral infection in children is mild, the question of the long-term effects of COVID-19 on a child and adolescent, in particular, on pancreatic beta cells, remains unclear.Purpose: To ...

Background: Obesity is a complex disease that have an impact of many organs and systems. Syndromic obesity, although rare separately, encompasses around 70 entities with different phenotypic expression, gene involvement and associated anomalies. There are many genes that can influence obesity, either monogenic or polygenic in basis. Children with syndromic obesity need additional testing in order to indentify a specific disorder. Metabolic set up and endocrinological disturban...