ESPE Abstracts

Background: Psychosocial factors are important for patients with chronic diseases such as type 1 diabetes. Lack of social network and poor social support are risk factors that affect morbidity. Little is known about social network and social integration of families with children with type 1 diabetes.Objective and hypotheses: Aim was to explore the social network of families with young children with type 1 diabetes and to examine associations between indi...

Background: Fanconi–Bickel syndrome (FBS) is a rare glycogen storage disease characterized by hepato-renal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism. We present the case histories of two sisters who were diagnosed with FBS.Case reports: The proband, Lina, was referred to our clinic for growth retardation and abdominal distention aged 27 months. She is the 4th child of consanguineous parents...

Introduction: Glucocorticoid treatment remains a challenging aspect in the management of congenital adrenal hyperplasia (CAH). Current strategies for monitoring treatment are suboptimal and rely largely on frequent blood tests, which are traumatising in children and young persons (CYP). Recent evidence indicates a crucial role of 11-oxygenatedC19 androgens in the pathogenesis of CAH.Aim: To explore the use of 11-oxygenat...

Background: Thyroid hormones are necessary for normal child development. Hypothyroidism, associated with insufficient amounts of free triiodothyronine and thyroxine, may not only cause poor growth rate, but also results in impaired central nervous system development. In Poland, newborn screening for congenital primary hypothyroidism, the incidence of which is reported to be 1:2500- 1:4000 births, has been performed for many years. Secondary hypothyroidism, cau...

Introduction: Thyroid hormone resistance (THR) is a rare syndrome which is characterized by reduced response to thyroid hormones at tissue level. The disorder is caused by genetic mutation in the thyroid hormone receptor. The most common are a heterozygous thyroid hormone β (THRβ) gene mutations. Laboratory tests usually show normal or elevated level of thyroid- stimulating hormone (TSH) and high concentration of thyroid hormones (T3 and T4).<p c...

Simpson-Golabi-Behmel syndrome is a condition which classified as an overgrowth syndrome and affects many parts of the body and occurs primarily in males. Infants have macrosomia at birth and continue to grow and gain weight at an unusual rate. The incidence of Simpson-Golabi-Behmel syndrome is unknown. Mutations in the GPC3 gene are the most common cause of Simpson-Golabi-Behmel syndrome. About 250 people worldwide have been diagnosed with this disorder. About 10 percent of p...

Background: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. Moreover it was demonstrated that ZnT family plays an important role in the synthesis and secretion of many hormones. ZnT8 autoantibodies (ZnT8 Ab) next to glutamic acid decarboxylase antibodies (GAD Ab), insulin autoantibodies (IAA), and islet antigen-2 antibodies (IA-2 Ab) have been described as markers of autoimmune process ...

Non-classic form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common disorder, which is associated with the use of hydrocortisone. Clinically patients present the GnRH-independent precocious puberty with rapid growth and advanced bone age. Inappropriate inhibition of androgen secretion can induce precocious central puberty. We present the case of 9-year-old girl, who was treated of the congenital adrenal hyperplasia due to 21- hydroxylase defi...

Introduction: Shear wave elastography (SWE) is an ultrasound diagnostic method used to measure tissue stiffness. Since the mechanical properties of tissue involved in the pathological process are changed, SWE might indicate regions of the examined tissue covered by the disease. It is well documented, that SWE helps differentiate benign and malignant nodules in thyroid gland in adults, however there are still few studies on application of SWE in thyroid diagnos...

Background: Partial gonadal dysgenesis with a 46,XY karyotype (46,XY PGD) is a disorder of sex development (DSD) associated with abnormal development of the gonads. It is characterized by abnormally developed external genitalia with or without Mullerian structures. The degree of abnormality varies from a female phenotype with clitoral hyperplasia to a male phenotype with isolated hypospadias. The incidence is unknown. In 20-30% of patients, gonadoblastoma or i...