We report the case of a 37-year-old Chinese man who came with a history of bilateral adrenalectomy and was admitted for recurrent phaeochromocytoma. Further investigations of an incidental finding of persistently raised carcinoembryonic antigen (CEA), fi rst observed four years ago, revealed medullary thyroid carcinoma (MTC). As such, a provisional diagnosis of Multiple Endocrine Neoplasia 2A (MEN 2A) was made. In this case, it seemed like the long-standing elevation of CEA was ignored until it was noted in a post-clinical discussion among several physicians. The present case illustrates the significance of considering a single abnormal biochemical test in an asymptomatic patient and also discusses the importance of life-long follow-up of a patient with a history of phaeochromocytoma.
Matched MeSH terms: Multiple Endocrine Neoplasia Type 2a/diagnosis*
Multiple endocrine neoplasia type 1 (MEN1), an autosomal dominant disease characterized by neoplasia of the parathyroid glands, anterior pituitary and endocrine pancreas, is rarely reported in Asian populations. The MEN1 gene, mapped to chromosome 11q13 but yet to be cloned, has been found to be homogeneous in Caucasian populations through linkage analysis. Here, two previously unreported Asian kindreds with MEN1 are described; linkage analysis using microsatellite polymorphic markers in the MEN1 region was carried out. The first kindred, of Mongolian-Chinese origin, is a multigeneration family with over 150 living members, eight of whom are affected to date. The second kindred is of Chinese origin consisting of four affected members. Linkage to chromosome 11q13 was confirmed in both kindreds, supporting evidence for genetic homogeneity. A recombination in the larger kindred localizes the gene distal to marker D11S956, consistent with its placement from previous studies. We also show that it is feasible to use these markers for predictive testing, as four gene carriers were detected in 13 family members with unknown disease status in the first kindred.
Matched MeSH terms: Multiple Endocrine Neoplasia Type 1/ethnology; Multiple Endocrine Neoplasia Type 1/genetics*
Growth hormone secreting pituitary tumor or gigantism has not been previously reported to be associated with rapid progression of scoliosis in the literature. However, there are some reports indicating scoliosis can be worsened by growth hormone therapy in children and adolescents. A 19-year-old boy was referred to our institution for the treatment of a right thoracolumbar scoliosis. The Cobb angle had worsened from 29° to 83° over two years' duration. He attained puberty at the age of 13. He had a previous history of slipped upper femoral epiphysis (SUFE), which was operated in 2015, with no clinical features of gigantism. Preoperative assessment was performed. He was diagnosed with growth hormone secreting pituitary macroadenoma by magnetic resonance imaging with a high serum level of insulin-like growth factor-I (IGF-I). Computed tomography (CT) of the pancreas showed a pancreatic endocrine tumor. The patient was later diagnosed with multiple endocrine neoplasia type 1 (MEN 1). He underwent endoscopic endonasal excision of the pituitary mass and distal pancreatectomy. This case indicates that growth hormone secreting pituitary macroadenoma could result in rapid progression of scoliosis.
Matched MeSH terms: Multiple Endocrine Neoplasia Type 1/diagnosis*
Gastroenteropancreatic neuroendocrine tumours (GEP- nETs) are rare neoplasms with a complex spectrum of presentation. The study cohort (n=64) included the diagnoses of carcinoid, (n=26, 41%), insulinoma, (n=25, 39%), undetermined (n=10, 16%), VIPoma, glucagonoma and multiple endocrine neoplasia (MEn-1) (n= 3). Almost half of the patients (n=31) had distant metastasis at diagnosis, the commonest being carcinoid tumours. Presenting symptoms were due to either hormonal expressions or mass effects. diagnoses in all patients were made based on positive immunohistochemical staining for chromogranin and synaptophysin. Less than half (n=30) had either serum chromogranin A, urinary 5-hydroxyindole acetic acid (5-hIAA), serum insulin or C-peptide levels performed. Commonest diagnostic imaging modalities were computed tomography (CT) scan (94%) and abdominal ultrasound (15%). Curative or palliative surgery was performed in 58 patients. Systemic therapy included long acting somatostatin analogues (n=14), chemotherapy (n=7) and interferon-α2b (n=1). nine patients died, all of who had metastatic disease at diagnosis. All patients with insulinoma (n=25) were assessed by endocrinologists whilst carcinoid tumours were mainly managed by surgeons (n=16/26). Involvements of oncologists and gastroenterologists were minimal. This study showed that patients with GEP-nETs in Malaysia commonly presented late in the disease with presence of distant metastases. Less than half had adequate hormonal and biochemical examinations performed for diagnostic as well as prognostic purposes, and only a third received systemic therapy. Lack of institutionalbased database, clinical expertise and multi-disciplinary involvement contributed to the inadequate surveillance and management of the disease.