ESPE Abstracts

Background: There exists limited data regarding genetic etiology of hypophosphatemic rickets in Turkey.Objective and hypotheses: To investigate the type of genetic defect in 16 index children and their families (12 unrelated, 1 related).Method: Following clinical and laboratory assessment, PHEX analysis was made initially unless a mutation in another gene was suspected. If negative, FGF23, SLC34A3, SL...

Background: Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency is the second most common form of CAH, resulting from a mutation in the CYP11B1 gene. Steroid 11β-hydroxylase deficiency results in excessive mineralcorticoids and androgen production leading to hypertension, virilisation, and ambiguous genitalia of genetically female infants.Objective: The aim of the study was to identify the molecular detect ca...

Background: The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this gene cause a rare autosomal recessive disorder, vitamin D-dependent rickets type 1A.Objective and hypotheses: To investigate CYP27B1 mutations in children when rickets was associated with normal or high vitamin D levels and low or inappropriately normal calcitriol levels.Method: All coding exons and intron-exon boundari...

Background: Adolescent growth spurt is the fast and intense increase in the rate of growth in height and weight that occurs during the adolescent stage of the human life cycle.Objective and hypotheses: To investigate the changes of hormone levels and body composition in pubertal children with growth retardation.Method: A non-randomised clinical controlled study was conducted in 208 cases (males 122, 10–14 years and females 86,...

Background:In children and adolescents suffered form primary intracranial germ cell tumors, bifocal GCTs are rare and were reported a bad prognosis. In this study, we report a case and summarize the clinical characteristics and prognosis.Methods: A boy suffered form bifocal GCTs (Basal ganglia and pineal region) was diagnosed in our hospital and accepted chemotherapy+radiotherapy, and was followed up.<p class="abstex...

Background: Kabuki syndrome (KS) is a rare dominant disorder of transcriptional regulation with a complex phenotype including cranio-facial dysmorphism, intellectual disability, developmental delay, hypotonia, failure to thrive, short stature and variable cardiac and renal anomalies. Mutations in either KMT2D or KDM6A cause KS. While the phenotype of KS has been reported in many ethnicities, little is known about the phenotypic spectrum of KS...

Objective: Inactivating mutations in the gene encoding the alpha-subunit of Gs (GNAS) gene, which consists of exons 1-13 and encodes the alpha-subunit of the stimulatory G protein (Gsa), are associated with several clinical syndromes, including pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), and progressive osseous heteroplasia (POH).Method: We documented patient clinical characteristics a...

Background: In children with extracranial germ cell tumors (GCTs), brain metastases are rare and are classified as “poor prognosis”. The longest interval to brain metastases was 36 months after diagnosis in children, however, it is still less understood.Methods: We report a boy who had suprasella tumor recurrence 4 years after the first diagnosis of extracranial GCTs (thymus).Re...

Background: Type 1 diabetes is characterised by destruction of islet β cell by autoimmune insulitis and islet cell apoptosis. This study analysed the microRNA 125b how to regulate pancreatic β-cells dysfunction, aiming to elucidate the association between miRNA125b and type 1 diabetes.Objective and hypotheses: Recent study indicate miRNA may have role in the development of type 1 diabetes, so this study analyse the miRNA expression profile in t...

Background: BMI has a negative impact on spontaneous and stimulated GH secretion in children, but the impact of BMI and free fatty acids (FFA) on peak stimulated GH values in Han children with short stature is unknown.Objective and hypotheses: To assess the effects of BMI and FFA on peak GH values in Han children with short stature.Method: This was a retrospective, cross-sectional study. We used arginine–clonidine test to anal...