Amany Ibrahim

Abnormal Glucose Tolerance in β-Thalassemia: Assessment of Risk Factors

In β-thalassemia (β-thal) major, the pathogenetic mechanisms leading from siderosis to diabetes are poorly understood. We assessed the glycometabolic status in transfusion-dependent Egyptian β-thal patients and evaluated their possible risk factors for abnormal glucose tolerance (AGT). An oral glucose tolerance test (OGTT) was done on 54 multi-transfused patients and 28 age-matched normal controls, measuring their serum insulin levels at 0 and 120 min. Insulin sensitivity and insulin release indices were calculated. Indicators of iron overload and liver status were recorded. Thirteen patients (24.1%) had AGT. Cases with AGT had significantly higher mean postprandial insulin, fasting insulin resistance index (FIRI) and homeostasis model assessment (HOMA) insulin resistance (IR), p = 0.0001 for all, and significantly lower mean HOMA β cell, p = 0.007, when compared with normal glucose tolerance (NGT) cases. Abnormal glucose tolerance is common in multi-transfused β-thal major patients and could be attributed to early impaired β-cell function with increasing IR.

Assessment of health-related quality of life in Egyptian adolescents with type 1 diabetes: DEMPU survey

Abstract Background: Type 1 diabetes (T1D) is a serious chronic illness that imposes significant morbidity and mortality with a major impact on the quality of life (QoL) that became a core issue in diabetes care. Understanding the effect of diabetes on QoL is important for day-to-day clinical management and also for public health policy initiatives aiming at improving health outcomes for those with diabetes. The objective of the study was to assess the QoL in adolescents with T1D and assess the applicability of the use of the “Quality of Life for Youth” questionnaire at the Diabetes, Endocrine and Metabolism Pediatric Unit (DEMPU) clinic. Methods: One hundred and fifty adolescents (82 males and 68 females) (10–18 years), with T1D of at least 1 years’ duration, completed the questionnaire that evaluated symptoms related to diabetes, treatment, activities, parent issues, worries about diabetes and health perception. Higher scores indicated a more negative impact of diabetes and poorer QoL. Results: Males showed a significantly better mean QoL score than females (p=0.004). Different age groups showed different QoL scores (p=0.047). Urban adolescents had a better QoL than rural counterparts (p=0.02). Adolescents with poor QoL had generally lower educational level (p=0.02). Better metabolic control was associated with a better QoL (p=0.01). However, duration of diabetes and body mass index (BMI) had no statistically significant effect on QoL. Conclusions: QoL had a variable significant association with certain socio-demographic and clinical characteristics of diabetics (sex, residence, educational level as well as metabolic control).

CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge

CYP21A2 genotyping remains an important element in the diagnosis and management of congenital adrenal hyperplasia, and establishing accurate genotype–phenotype correlations has facillitated adequate genetic counseling and prenatal management for at‐risk families. Despite extensive efforts to establish a clear genotype–phenotype correlation, some discordance remains. Establishing a diagnosis of congenital adrenal hyperplasia on the basis of biochemical and clinical data is occasionally challenging, and the identification of CYP21A2 mutations may help confirm the diagnosis. We review the diagnostic challenges despite an extensive genetic evaluation for 14 patients with a suspected clinical and biochemical diagnosis of congenital adrenal hyperplasia. Other diagnostic entities should be considered in the absence of convincing genetic data.