Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population.

CONTEXT AND OBJECTIVES: 5-α reductase deficiency is a rare 46,XY disorder of sex development. We present detailed phenotypic and genotypic features of a cohort of 24 subjects from a highly consanguineous population of Saudi Arabia SUBJECTS AND METHODS: We studied the clinical presentation and hormonal profiles of 24 subjects diagnosed with 5-α reductase deficiency and performed genetic testing on DNA isolated from their peripheral blood using polymerase chain reaction and direct sequencing of the SRD5A2. RESULTS: All subjects had 46,XY karyotype and presented with atypical appearance of external genitalia ranging from clitoromegaly, micophallus with hypospadias, undescended testes to completely normally looking female genitalia. Thirteen (54%) of them had severe under virilization and were assigned female sex at birth. The other 11 subjects were raised as males. Stimulated Testosterone:Dihydrotestosterone ratio was high in all 16 subjects in whom it was measured. The genetic testing revealed 2 nonsense mutations (p.R103X and p.R227X) in 2 unrelated subjects, 3 missense mutations (p.P181L, p.A228T, p.R246Q) in 11 subjects and a splice site mutation (IVS1-2A > G) in 11 other subjects. There was significant phenotypic variability even in subjects with the same mutation and also within the same family. CONCLUSION: This is the first and largest report of the clinical and molecular genetics of 5-α reductase deficiency from the Middle East. It shows weak genotype/phenotype correlation and significant phenotypic heterogeneity. IVS1-2A > G mutation is the most common mutation and is likely to be a founder mutation in this part of the world.

The potential effect of technology and distractions on undergraduate students' concentration.

BACKGROUND AND OBJECTIVES: In the present era, it is difficult to keep the concentration of college students at its maximum potential during the class time, as there are many distractions that negatively impact students' concentration and prevent optimal learning. Technologies such as laptops and cell phones have invaded the classroom, raising considerable concerns about their effects on college students' attention in the classroom. Despite these concerns, no research has been done in Saudi Arabia on the effects of technology and other types of classroom distractions on students' concentration. In the current study, we have attempted to identify students' perceptions of major distractions in the classroom based on seventeen internally (self-produced) and twenty-four externally produced classroom situations. METHODS: The students participating in this study rated the degree to which each distraction interferes with their concentration on the class materials and their ability to learn. Data were collected through surveys of 265 students (66 and 199 students from medical and basic classes, respectively), including 97 females and 168 males 17-23 years of age from the academic years 2010 to 2014. A validated self-administered questionnaire was handed to the students in the classroom. The students were asked to report and rate the classroom distraction produced by 24 external internal distracters (Table-II), on a 5-point scale. RESULTS: The results revealed that ringing cell phones in the class were the most commonly reported electronic external distractor for 68% of students, and 21% of them reported being extremely distracted by this noise. Having an instructor who is difficult to understand was the most commonly reported external behavioral distractor for 75% of students, and 48% of them rated this as extremely distracting. Students talking in class were the most self-produced distractor for 72% of students; negatively impacting their concentration and ability to learn, and 42% of them rated it as an extreme distractor. Wearing clothing with unusual words, drinking and eating in the classroom were minimally distracting colleagues. Overall, distractions (internal and external) were more significant for fifth-year students than the other years at a p-value < 0.001. CONCLUSION: Students believed that laptop and cell phone use in the classroom can effect their concentration and ability to learn. The students also felt that inappropriate behavior is a major distraction for students as well, and thus necessitates monitoring and improvement.

Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia.

Context. Pseudohypoaldosteronism type 1 (PHA1) is a life-threatening disease that causes severe hyperkalemia and cardiac arrest if not treated appropriately or if diagnosis is missed. Objective. To report a case of a newborn with vomiting and lethargy, ultimately diagnosed with pseudohypoaldosteronism. Patient. This case presented to the ED at an age of 14 days in hypovolemic shock. There was a family history of sudden infant death, her sister who was diagnosed with CAH and passed away at 3 months of age despite regular hormone replacement. Our patient had cardiac arrest in ED, due to hyperkalemia; while receiving fluid boluses, cardiopulmonary resuscitation was initiated. After stabilization, diagnostic workup demonstrated persistently low sodium, acidosis, and high potassium, which required peritoneal dialysis. Based on these findings, the patient was diagnosed with CAH. It turned out later that the patient had PHA1. Two years later, the patient had a new sibling with the same disease diagnosed at birth and started immediately on treatment without any complication. Conclusions and Outcome. This case highlights the significant diagnostic and therapeutic challenges in treating children with PHA1. Adrenal crisis is not always CAH; delayed diagnosis can lead to complication and even death. The presence of high plasma renin activity, aldosterone, and cortisol, along with the presence of hyponatremia and hyperkalemia, established the diagnosis of PHA type 1 and ruled out CAH.

Prevalence and characteristics of celiac disease in type I diabetes mellitus in Saudi Arabia.

OBJECTIVE: To examine the prevalence of celiac disease in young patients in the Kingdom of Saudi Arabia with type I diabetes mellitus. METHODS: Serum gliadin immunoglobulin (Ig) A and reticulin IgA antibody determination was performed in 123 patients with type I diabetes mellitus attending the pediatric diabetic clinic at King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia between 1995 and 1996. RESULTS: Elevated serum gliadin and reticulin IgA antibodies were found in the sera of 10 (8.1%) of the 123 diabetic children; none had gastrointestinal symptoms. Six of the 10 subjects had jejunal biopsy, which showed total villus atrophy. Four subjects did not undergo jejunal biopsy. The gender ratio of the biopsy positive is 5 male:1 female. All subjects with IgA positive were put on gluten free diet and normalized in a few months. CONCLUSION: The maximum prevalence of celiac disease in our population was 8.1% based on immunological marker and the minimum was 4.9% based on antibodies and biopsy results.