ESPE Abstracts

Backgroud: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. It was demonstrated that ZnT family plays an important role in the synthesis and secretion of many hormones. Moreover, recently ZnT8 was described as a newly islet autoantigen in type 1 diabetes.Material and methods: The study was performed in the group consisting of patients with 44 Graves’ disease (...

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...

The Loeys-Dietz syndrome (LDS) is a genetic heterogeneous, autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. We present a 16.5-year-old girl with LDS2 caused by a mutation c.1582C>T (p.R5228C) in the TGFBR2 gene and treated with recombinant growth hormone (rGH) du...

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...

Objectives: We can notice that in Poland and around the world, the number of obesity cases in the pediatric population is increasing spectacularly. Metabolic syndrome, which can be recognized and treated in childhood, is often neglected during this period. As a result, in adult life it may increase the risk of cardiovascular diseases development dependent from VEGF. That is why it is so important to diagnose and treat obesity in childhood, thanks to therapeuti...