ESPE Abstracts

Background: WBS is a rare genetic disorder characterized by distinctive facial features, intellectual disability, cardiovascular anomalies, and infantile hypercalcemia.Objective and hypotheses: Majority of WBS cases occur sporadically, only five families with clinically confirmed WBS have been identified by molecular cytogenetic analysis. Here, we report on the three molecular cytogenetically confirmed familial WBS detected in a family with familial shor...

Background: Mutations in POU1F1 is a rare cause of combined pituitary hormone deficiency, which commonly includes GH, TSH and prolactin deficiencies and characterised by hypoplastic anterior pituitary.Objective and hypotheses: To present a case of severe short stature and developmental delay 1.5 years old girl, who was admitted to our hospital because of short stature.Method: Hypopituitarism panel’ genes were sequence...

Background: Type 1 diabetes is one of the most common chronic diseases in childhood. Parents of children with type 1 diabetes are significantly involved in the treatment, rendering them vulnerable to parental stress. Psychological difficulties experienced by the parents may have adverse effects on disease management and the child's psychological and somatic health.Objectives: To assess parental stress and factors in...

Introduction: Type 1 diabetes mellitus (T1DM) is a chronic disease characterized by absolute insulin deficiency, it’s usually diagnosed in children and adolescents. According to a recent report from the International Diabetes Federation, Saudi Arabia has 14,900 children with T1DM. The incidence is increasing over the last years with prevalence rates of 48 per 100,000 in the eastern region. Parents play an important role in the management of T1DM in children. As a result, ...

Background: Alagille syndrome (ALGS) is an autosomal dominant genetic disorder, with highly variable phenotype affecting multiple organs. Commonly presents in infancy or early childhood as cholestasis. Mutations in the notch signaling pathway ligand (JAG1) or its receptor (NOTCH2) lead to ALGS. This pathway is important for the pancreatic development. However,no cases of ALGS with Congenital Hyperinsulinism (CHI) have been reported to date.<p class="abste...

The Silver-Russel syndrome (SRS) is characterized by an intrauterine growth retardation accompanied by postnatal growth deficiency. Affected individuals typically have proportionately short statue, finger deformities as well as typical facial features. About 10% of individuals with SRS have maternal uniparental disomy for chromosome 7 (UPD7) and 35%–50% showed hypomethylation of the parental imprinting center region 1 (ICR1) of chromosome 11p15.5. In the recent past also ...

Turner syndrome is linked to the absence or abnormality of one of the X chromosome leading to haplo-insufficiency of genes involved in the development and maintenance of the ovarian stock in women. The purpose of this study was to establish the clinical, hormonal, cytogenetic and evolutive pattern of Uzbek population with Turner syndrome and to search for correlations between genotype and phenotype. We examined 149 Uzbek girls with Shereshevsky-Turner syndrome aged from 3 mont...

Background: Boys with PWS often have unilateral or bilateral cryptorchidism. Prospective studies on the treatment of cryptorchidism in boys with PWS are lacking and there is no treatment consensus among pediatricians and urologists.Objective and hypotheses: We hypothesized that hCG treatment would lead to a scrotal position of the testes in infants with PWS and cryptorchidism. We therefore evaluated the effects of hCG treatment on testis position. Additi...

Background: Cleidocranial dysplasia (CCD; MIM 119600) is a rare congenital autosomal dominant skeletal dysplasia characterized by hypoplastic or aplastic clavicles, late closure of the fontanelles, open skull sutures, dental anomalies, moderately short stature and a variety of other skeletal features. CCD is caused by mutations, deletions or duplications in the runt-related transcription factor 2 gene (RUNX2), which encodes for a protein essential for osteoblast differentiatio...

Background: Mitchell Riley syndrome is a rare syndrome caused by mutations in the RFX6 gene, resulting in neonatal diabetes, intestinal atresia, pancreatic abnormalities, and biliary hypoplasia. RFX6 is a winged helix transcription factor that is expressed in the developing pancreas and in the gut endoderm. Previous eight case reports highlight poor outcomes with usually a fatal course in infancy.Case presentation: Twin 2 of a dichorion...