ABSTRACT
A clinical descriptive study was done to determine the sociodemographic, laboratory and clinical characteristics of patients with congenital adrenal hyperplasia (CAH) referred to Hospital Putrajaya, a tertiary endocrine centre in Malaysia. Electronic laboratory data of 51 CAH patients were obtained. The demographics and clinical details of the study population were acquired from a questionnaire completed by parents of participants. There were 25 males (49%) and 26 females (51%), of which, 58.8% were Malays. Median age of participants was 4 years whilst median age at diagnosis of CAH was two years. Parental consanguinity was documented in three patients (5.9%). Patients originated from Johor (19.6%), Selangor (19.6%), Negeri Sembilan (17.6%) and Kedah (13.7%). Majority of patients were diagnosed after one week of life (80.4%) although more females were diagnosed under the age of one week compared to males (p=0.041). Most females presented with ambiguous genitalia (42.3%) [p=0.001] whereas 72% of males presented with salt wasting (p=0.003). No significant associations between race and all other variables, though interestingly three Malay patients presented with ambiguous genitalia and hypertension. Equal gender distribution noted as expected in an autosomal recessive condition, although not in keeping with other Asian countries. Early diagnosis in females attributed to obvious genital ambiguity at birth. Varied clinical presentation, although in minority, necessitates genetic studies for prompt diagnosis and treatment. Considering that majority of patients presented with salt wasting and the age at diagnosis was delayed, the introduction of a neonatal screening programme is essential in Malaysia.
Subject(s)
Adrenal Hyperplasia, CongenitalABSTRACT
Patients with diabetes have an earlier onset and increased severity of anaemia compared to those with similar degree of renal impairment from other causes. Anaemia is associated with an increased risk of vascular complications. In this study, we determined the prevalence of anaemia in T2DM patients and its association with sociodemographic, clinical and laboratory parameters in an endocrine tertiary hospital in Malaysia. This was a cross-sectional study using retrospective electronic data from January 2011 to December 2013 of 165 T2DM patients in Hospital Putrajaya. Data was analysed using IBM SPSS Statistics version 21.0 for Windows. The prevalence of anaemia was 39.4% and majority had normocytic normochromic (80%), mild (58.5%) anaemia. Majority were Malays (73.9%), aged below 60 with comparable gender percentage and long-standing, poorly-controlled DM [median fasting blood sugar (FBS) 8mmol/L; glycated haemoglobin (HbA1c) 7.9%]. Using the KDIGO chronic kidney disease (CKD) staging system, 86% of these patients were in stages 3-5. Anaemic patients had a significantly higher serum urea, creatinine and a lower FBS, estimated glomerular filtration rate (eGFR) compared to non-anaemic patients. Anaemic patients with diabetic nephropathy had a significantly lower haemoglobin (Hb) compared to those without this complication (p=0.022). The sensitivity and specificity at a cut-off eGFR value of 38.3 ml/min/1.73 m2 (maximum Youden index = 0.462) was 66.7% and 79.5%, respectively to discriminate mild from moderate anaemia. This study shows that anaemia is already present in T2DM patients in Hospital Putrajaya at initial presentation to the specialist outpatient clinic and is significantly associated with CKD. Hence, it emphasises the obligatory need for routine and follow-up full blood count monitoring in T2DM patients in primary care as well as tertiary settings in Malaysia to enable early detection and aggressive correction of anaemia in preventing further complications.