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OBJECTIVE To describe two unrelated Thai patients with suspected 5alpha-reductase type 2 deficiency and perform mutation analysis of the SRD5A2 gene. DESIGN Case report. SETTING A pediatric endocrinology clinic at a university hospital. PATIENT(S) Two unrelated patients with 46,XY karyotype, born with ambiguous genitalia, were studied. One was reared(More)
BACKGROUND POU1F1 is a pituitary transcription factor that plays a pivotal role in pituitary development and expression of the GH, PRL and TSH beta genes. Therefore, abnormalities of the POU1F1 gene are known to be responsible for a phenotype causing combined pituitary hormone deficiency (CPHD) involving growth hormone, prolactin and thyrotropin. METHODS(More)
Pheochromocytoma is a rare disease of the chromaffin cells that secrete catecholamines. It may occur during pregnancy. Bilateral pheochromocytoma in pregnancy is even rarer. A 26-year-old woman, gravida 2, para 0-0-1-0, 18 weeks’ pregnancy, was initially seen with elevated blood pressure (170/100 mmHg) and mild headache. The cause of hypertension was(More)
Several lines of evidence have pointed out that genetic components have roles in thyrotoxic hypokalemic periodic paralysis (TTPP). In this study, for the first time we performed genome-wide association study (GWAS) in male hyperthyroid subjects in order to identify genetic loci conferring susceptibility to TTPP. We genotyped 78 Thai male TTPP cases and 74(More)
BACKGROUND Thyroid function test is an essential tool in the diagnosis of thyroid dysfunction. To date, it is still controversial which diagnostic algorithm is best applicable to clinically hyperthyroidism patients. OBJECTIVE To compare various algorithms of thyroid function tests in the diagnosis of hyperthyroidism. METHOD Patients from the endocrine(More)
The distribution of HLA-DRB1, -DQA1 and -DQB1 alleles were analysed in 124 Graves' disease (GD) patients compared to 124 normal controls in order to identify the alleles/haplotypes associated with GD in Thai population. The DRB1*1602-DQA1*0102-DQB1*0502 haplotype was significantly increased in GD patients (P = 0.0209, OR = 2.55). DRB1*07-DQA1*0201-DQB1*0201(More)
Multiple endocrine neoplasia type 1, caused by the mutation in the MEN1 gene, is an autosomal dominant disorder with over 95% penetrance characterized by hyperparathyroidism, pancreatic endocrine tumor and pituitary tumor. The authors performed a molecular analysis to identify a mutation in a Thai man with MEN1. He was found to be heterozygous for IVS6 + 1G(More)
BACKGROUND Cytotoxic T-lymphocyte antigen-4 (CTLA-4) is a cell surface molecule involved in the regulation of T cells. Single nucleotide polymorphisms (SNPs) of CTLA-4 gene are known to be associated with susceptibility to several autoimmune diseases, including systemic lupus erythematosus (SLE) and Graves' disease (GD). OBJECTIVE The aim of this study(More)
We have shown that adenovirus-mediated manipulation of apoptotic genes such as bax could be a therapeutic option for prostate cancer. Unfortunately, the response of experimental prostate tumors to a single therapeutic gene of the apoptotic pathway is short-lived, and most of these tumors relapse after a short period of time. In this investigation we present(More)