CASE PRESENTATION: Five patients with female phenotypes presented in early adulthood with primary amenorrhoea with varying degrees of puberty. One was tall with breast development. Another was very short with clitoromegaly and multiple co-morbidities. The other three had no secondary sexual characteristics. They were examined, after which hormonal profile, karyotyping, ultrasound examination and magnetic resonance imaging were done to assess the site of gonads. Gonadectomy was performed once their 46 XY karyotype was confirmed. Results of histopathological examination of their gonads ranged from dysgenetic gonads to having testicular tissues and malignancy.
CONCLUSION: Female patients with 46 XY karyotypes require prophylactic gonadectomy performed at different timings depending on diagnosis due to the malignancy risk. Pre-operative assessment is essential to locate the gonads prior to surgery.
Aim: To report the rate of misdiagnosis and its associated risk factors in Malaysian children and adolescents with T1DM.
Methods: A retrospective analysis of children with T1DM below 18 years of age over a 10 year period was conducted.
Results: The cohort included 119 children (53.8% female) with a mean age 8.1 SD ± 3.9 years. 38.7% of cases were misdiagnosed, of which respiratory illnesses were the most common (37.0%) misdiagnosis. The rate of misdiagnosis remained the same over the 10 year period. Among the variables examined, younger age at presentation, DKA at presentation, healthcare professional (HCP) contact and admission to the intensive care unit were significantly different between the misdiagnosed and correctly diagnosed groups (p <0.05).
Conclusion: Misdiagnosis of T1DM occurs more frequently in Malaysian children <5 years of age. Misdiagnosed cases are at a higher risk of presenting in DKA with increased risk of ICU admission and more likely to have had prior HCP contact. Awareness of T1DM amongst healthcare professionals is crucial for early identification, prevention of DKA and reducing rates of misdiagnosis.
MATERIALS AND METHODS: Selected cases diagnosed as non-Hodgkin's lymphoma (NHL) during the period of 1980 to 2012 were retrieved from the archives of the Oral Pathology Diagnostic Laboratory, Faculty of Dentistry, University of Malaya. The sections from the formalin-fixed paraffin embedded tissue blocks were stained with H and E as well as with LCA, CD20, and CD3.
RESULTS: The mean age was 41.6 years with a male: female ratio of 1.3:1. Out of the forty two cases, nineteen were Malays, eighteen were Chinese, followed by Indians (3) and Indonesians (2). The most common site of involvement was the mandible (22.2%), followed by the maxilla and palate (19.4% each). Most of the lesions presented as a painless progressive swelling. Only thirty six cases were further subdivided into B or T cell types. The majority were B-cell type (26 cases), of these 6 cases were Burkitt's lymphomas. Only ten cases were T-cell lymphoma, with three cases of NK/T-cell lymphoma.
CONCLUSIONS: In this series of 42 patients diagnosed as extranodal non-Hodgkin's lymphoma, the lesions appeared as painless swellings, mostly in men with the mandible as the most frequent site of involvement. Majority were B-cell lymphomas with Malays and Chinese being equally affected whereas lymphomas were rare in the Indian ethnicity. T-cell lymphomas were found to be common in the Chinese ethnic group.