ESPE Abstracts

Introduction: Thiamine responsive megaloblastic anemia (TRMA) is a rare autosomal recessive condition caused by mutations in SLC19A2 gene and is classically characterized by the triad of diabetes mellitus, sensorineural hearing loss and megaloblastic anemia. It usually presents between infancy and adolescence but the cardinal findings are often not present initially. The anemia, and sometimes the diabetes improves with high doses of thiamine. Apart from the cl...

Aim: There is a well described association between diabetes and deafness in many syndromes Collect baseline data about syndromes of diabetes and deafness in Sudan and the underline etiology.Methods: All records of patients with diabetes registered from (Jan.2006 to Dece.2015) were reviewed. Those confirmed to have deafness where further reviewed to find the etiology and management.Result: Ten cases of Wolfram syndrome were identifi...

Introduction: Ovarian torsion (OT) occurs with partial or complete obstruction of blood flow as a result of rotation of the ovary around the infundibulopelvic ligament and/or utero-ovarian ligament. OT is very rare in the pediatric population. Although the most common form of presentation is abdominal pain, the unclear symptom profile in children can often result in missed diagnosis or late diagnosis. For the preservation of ovarian functions and future fertil...

Background: Partial gonadal dysgenesis is a rare 46, XY Disorder of sex development (DSD) characterized by a varying degree of testicular dysgenesis, ambiguous genitalia, and persistence or absence of regression of Müllerian structures. Many studies examined the challenges in presentation and gender assignment regarding the genital features, genetic mutations and histopathological risks of dysgenetic gonads. More recently some studies described the long-term outcome of pa...

Background: Vitamin D has a key physiological role in many metabolic process and neuromuscular activities. The peak bone mass accrual occurred during adolescence, where about 51% of bone mass is gained during puberty and about 37% of the bone mineral density (BMD) of adults is reached. Vitamin D deficiency has long-term negative implications including increased risk of osteomalacia and osteoporosis. Severe hypovitaminosis D appears to be most common in the Mid...

Background: The exact mechanism of the partial clinical remission in type 1 diabetes mellitus (T1DM) has not been elucidated yet. The severity of the inflammation at the time of diagnosis may have an impact on the occurrence or duration of this phase.Objective: We aimed to investigate the relationship between hematological inflammatory parameters at the time of diagnosis in children and adolescents with T1DM and the need...

Objective: Puberty has a significant contribution to different psychosocial wellbeing aspects. Hence; it is crucial to understand the normal variations in onset and tempo of puberty in a specific population. In this study, we aimed to provide normative data on timing of onset of puberty and age of menarche in Saudi schoolgirls in RiyadhMethods: This is a cross-sectional field study (2011-2013) including Saudi schoolgirls...

Background: Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare autosomal recessive metabolic disorder, characterized by recurrent painful swelling of long bones, periosteal new bone formation and cortical hyperostosis or intramedullary sclerosis, hyperphosphatemia and low intact fibroblast growth factor 23 (FGF23) protein levels. It is caused by mutations in two genes, N-acetylgalactosaminyltransferase 3 (GalNAc-transferase; GALNT3) and FGF23.<p class="abste...

Background: Biallelic QRSL1 mutations cause mitochondrial “combined oxidative phosphorylation deficiency-40” (COXPD40). COXPD40 has been reported invariably lethal in infancy. Adrenal insufficiency was weakly reported and investigated among seven previously reported patients with COXPD40.Objective: We report clinical, biochemical, molecular, and functional characteristics of a patient with adrenal in...

The stimulants that the mother is exposed during pregnancy may affect the baby in the future. Electromagnetic field exposure is an important external stimulus that we are subject to. In addition to the interaction of the earth and the sun with the magnetic field of man; nowadays the intensive use of electrical appliances, computers, mobile phones and internet, how electromagnetic field exposure may affect future generations will only occur in the continuation of our generation...