ESPE Abstracts

Background: Although the clinical presentations of congenital adrenal hyperplasia (CAH) have been studied in Saudi children, the literature review revealed no molecular report of 21-hydroxylase was published.Objective and hypotheses: The aim of this study was to determine the pattern of CYP21A2 gene-mutations of CAH in Saudi children.Method: Between January 2011 and March 2014 at King Fahad Military Complex, Dhahran, Saudi Arabia, ...

Introduction: Klinefelter syndrome (KS) is most common sex chromosomal aneuploidy in males. The typical clinical features are tall stature with long extremities, small testis, and learning disabilities. Three M syndrome is an extremely rare genetic disorder characterized by short stature, craniofacial abnormality and skeletal malformations. We report a unique case of short stature in KS due to three M syndrome.Case: A 9-...

Background: The need to understand the relationship between bone, muscle, and fat within the bone-muscle unit has recently gained great prominence. Although high resolution (HR) MRI is a non-invasive imaging modality that can provide this information, there is limited expertise in children and young people.Objectives: To establish MRI-based normative data for bone, bone marrow adiposity and muscle adiposity in children a...

Background: Primary ovarian insufficiency (POI) is genetically mediated in up to 30% of cases. Many genes associated with POI have roles in early ovary developmental processes, including meiosis.Objectives: We investigated the genetic mechanism underlying early-onset POI in three young women presenting with absent puberty: two sisters from a consanguineous pedigree and a third unrelated proband.<st...

Background: Persistent Müllerian duct syndrome (PMDS) is a Disorder of Sex Development (DSD) caused by mutations in genes encoding anti-Müllerian hormone (AMH) or its type II receptor (AMHR2) with autosomal recessive transmission. Objective: To report a case of transverse testicular ectopia (TTE), associated with PMDS, initially presented as an obstructed inguinal hernia.Case presentation: An 18- days- old male infant, wi...

Introduction: The metabolically healthy obese phenotype (MHOF) defines obese patients who have preserved insulin sensitivity and who do not have metabolic complications: lower risk of cardiovascular disease and type 2 diabetes in adulthood. Recent studies indicate that TMI (kg/m3) estimates the percentage of body fat more accurately than the BMI and it has been proposed to substitute the use of the BMI z-score values by those of the TMI. TMI values ...

Background: Vitamin-D deficiency becomes a worldwide issue, and major cause of rickets in younger age groups. Multiple causes lead to vitamin-D deficiency in which nutritional causes contribute the major factor. The synthesis of bioactive vitamin-D requires hydroxylation at 1α and 25 positions by cytochrome-P450 in the kidney and liver, respectively. Recently, human CYP2R1 has been reported as a major factor for 25-hydroxylation, in which it contributes for the inherited ...

Background: Sitosterolemia, a rare autosomal recessive defect in lipid metabolism, is caused by mutations in the transporter genes ABCG5 and ABCG8 coding receptors on the luminal surface of enterocytes. Thus, hyperabsorption of non-digestible plant sterol in tissue and blood resulting in cardiovascular (CVD) sequalae. Here we report a case of Sitosterolaemia incidentally diagnosed on whole exome sequencing (WES) for bony lesions in a young Saudi girl with asym...

Introduction: Congenital Adrenal Hyperplasia (CAH) is a chronic disease that requires life-long hormonal replacement therapy. Growth of patients with CAH can be affected by this therapy or the hyperandrogenic effect of the disease. In this study, we aimed to assess the potential effect of CAH and its therapy on final height in Saudi affected patients.Methodology: This is a retrospective cohort study from two tertiary end...

Introduction: The identification of obese patients with increased susceptibility and risk for glucose intolerance and type 2 diabetes requires an oral glucose tolerance test (OGTT). Reference values for Body mass index (BMI) and Tri-Ponderal mass index (TMI) according to age and sex of healthy children in Spain without malnutrition or obesity have recently been published (*). TMI values remain very uniform in both boys and girls from the age of 8 to 18 years, ...