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Objective To investigate the clinical and genetic characteristics in a patient with 17β-hydroxy-steroid dehydrogenase (17β-HSD) 3 deficiency, regarding its pathophysiology and pathogenesis. Methods Clinical features and laboratory data were analyzed in a pedigree of 17β-HSD3 deficiency. Blood samples from the patient and his parents were collected. HSD17B3 gene was screened for mutations by PCR and subclone sequencing. Results The patient presented with pubertal virilization and gynecomastia. The physical examination showed female external genitalia and testes in inguinal canals. The chromosome karyotype was 46, XY. Serum FSH, LH, dehydroepiandrosterone sulfate, androstenedione and 17-OH-progesterone levels were raised, whereas plasma testosterone was lowered. Sequencing analysis revealed 4 nucleotide deletion (172-175del) of HSD17B3 gene. Conclusion Virilization and gynecomastia in puberty suggest the probability of 17β-HSD deficiency. It may be verified clinically by hCG-stimulating test and confirmed by gene diagnosis.
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<p><b>OBJECTIVE</b>To investigate the relationships between the polymorphisms of estrogen receptor (ER) gene, bone mineral density (BMD) and bone biochemical markers in Chinese postmenopausal women.</p><p><b>METHODS</b>BMD of lumbar spine and femoral neck were measured using dual-energy X-ray absorptiometry (DEXA) in 186 Chinese postmenopausal women. The PvuII and XbaI polymorphisms of the ER gene were detected using polymerase chain reaction (PCR). Bone biochemical markers, serum alkaline phosphatase, osteocalcin and pyridinoline were measured by ELISA.</p><p><b>RESULTS</b>The femoral neck (FN) BMD (Z score) was higher in pp compared to Pp (-0.01 +/- 0.12 vs. -0.35 +/- 0.09, P < 0.05) while lumbar spine BMD (Z score) was higher in XX type compared to Xx and xx genotypes (0.01 +/- 0.45 vs -1.53 +/- 0.17, -1.29 +/- 0.10, < 0.001 and 0.001, respectively). Women without Px haplotype (n = 79) had a higher BMD Z-score for the lumbar spine (-1.03 +/- 0.14 vs -1.45 +/- 0.11, P < 0.05) and femoral neck (-0.01 +/- 0.11 vs -0.31 +/- 0.09, P < 0.05) than those who had it (n = 107).</p><p><b>CONCLUSIONS</b>The present study suggested that the pp and XX genotypes of ER gene might play a certain role in maintaining FN and lumbar spine BMD. ER genotypes without Px haplotype might be favorable to bone mass, while those with it might exert some harmful effect on bone mineral density.</p>
Subject(s)
Aged , Female , Humans , Middle Aged , Bone Density , Genotype , Polymorphism, Genetic , Postmenopause , Metabolism , Receptors, Estrogen , Genetics , Regression AnalysisABSTRACT
<p><b>OBJECTIVE</b>To report the clinical characteristics, biochemical profiles, diagnosis and treatment of one Chinese pedigree with glucocorticoid-remediable aldosteronism (GRA) and to study its molecular mechanism.</p><p><b>METHODS</b>Plasma and urinary aldosterone, cortisol and plasma renin activities were dynamically tested and diagnostic therapy with dexamethasone was undergone in 3 affected subjects. Long-distance PCR as well as DNA sequencing were applied to detect the fusion gene in this pedigree.</p><p><b>RESULTS</b>In this GRA pedigree, there were 4 affected subjects who had hypertension, hypokalemia and low basic and provoked renin activity. Three patients were given dexamethasone treatment, and had a significant decrease in plasma aldosterone concentrations (PACs) (from 192 +/- 9 ng/L to 87 +/- 7ng/L, P < 0.05) after 5 days. Among them, one patient (II -3) responded quite satisfactorily to the therapy, with serum K(+) rising from baseline value of 2.5 to 2.9, 3.8 and 4.15 mEq/L on the 10th, 28th and 35th days after treatment respectively. Three weeks later, his blood pressure decreased from its original level of 146.3 +/- 1 0.7/94.6 +/- 5.3 mm Hg to 138.3 +/- 3.1/87.3 +/- 6.1 mm Hg (P < 0.05). The other 2 members (III -2 and III -4) showed modest improvement although their PACs decreased significantly. Using long-distance PCR, we found a 3.9 kb band in all 4 affected individuals, which was absent in 5 unaffected members from this pedigree or 8 patients with aldosterone-producing adenoma (APA) or idiopathic hyperaldosteronism (IHA). By DNA sequence analysis, we found that the breakpoint of "unequal crossing-over" is both within intron 2 of the 11beta-hydroxylase gene (CYP11B1) and the aldosterone synthase gene (CYP11B2).</p><p><b>CONCLUSIONS</b>The excess of mineralocorticoid in patients with GRA can be inhibited by exogenous glucocorticoids. The fusion gene resulting from unequal crossing-over between the 11beta-hydroxylase gene and the aldosterone synthase gene is the pathogenesis of this Chinese GRA pedigree.</p>
Subject(s)
Adult , Female , Humans , Adrenocorticotropic Hormone , Physiology , Aldosterone , Blood , Glucocorticoids , Therapeutic Uses , Hyperaldosteronism , Blood , Drug Therapy , Genetics , Mutation , PedigreeABSTRACT
Objective To report the clinical characteristics, biochemical profiles, diagnosis and treatment of one Chinese pedigree with glucocorticoid remediable aldosteronism. Methods Plasma and urine aldo~sterone and cortisol and plasma renin activity were dynamically tested and diagnostic therapy was undergone in 3 affected subjects. Results All of 4 affected members had hypertension, hypokalemia, 3 patients had low basic and provoked renin activity (0.017?0.015 vs 0.13?0.08)?g?L -1 ?h -1 . 3 patients were treated with 2 mg dexamethasone for 5～7 days, then the medication was reduced gradually and maintained at 0.5～0.75 mg per day after 1～1.5 month(s). 5 days after treatment, the plasma aldosterone concentrations (PACs) decreased significantly from (192?9)ng/L to (87?7)ng/L (P
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Objective To observe the effect of berberine on glucose transport in 3T3-L1 adipocytes and to investigate its mechanism. Methods The glucose consumption of the cells was determined by the glucose oxidase method. The glucose transportation rate of the cells was assayed by the uptake of 2-deoxy-〔 3H〕-D-glucose. Protein kinase B (Akt) activity was detected by immunoprecipitation and Western blot. The gene expression of c-Cbl-associated protein (CAP) was detected by Northern blot. Results 0.1～200 ?mol/L berberine significantly increased glucose consumption in 3T3-L1 adipocytes with a dose-dependent effect, which was independent of insulin. The glucose transportation was significantly increased in adipocytes incubated with 0.1～10 ?mol/L berberine; the action began at 2 h and reached a peak value at 12 h. The results of immunoprecipitation and Western blot showed that berberine did not enhance Akt activity. The result of Northern blot indicated that berberine significantly decreased CAP mRNA expression. Conclusion Adipocytes are the important target cells of berberine. Berberine significantly increases glucose transportation and consumption in adipocytes, the action appeares to be independent of insulin signal pathway.
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Objective To investigate the effects of control status scale for diabetes (CSSD70), designed by diabetes center of Ruijin Hospital, in type 2 diabetes patients. Methods The correlations between CSSD70 and age, gender, duration of diabetes, educational backgrounds, insulin use, instruments for diabetes control, diabetes family history, symptoms at the onset of diabetes, complications, random plasma glucose and HbA_(1c) were analysed in 136 type 2 diabetes patients. The correlation between CSSD70 and another national questionnaires DQOL was analysed, and in order to determine the validity and stability of CSSD70, 30 patients were asked to complete the scales twice within one week. Results The coherent results in CSSD70 and DQOL were obtained, but CSSD70 was more comprehensive and sensitive. Almost all factors included in this study were related to CSSD70 total score and sub-scale score. The stability of CSSD70 was fine, and a close relationship between total score and sub-scale score was found. Conclusion The CSSD70 appears to be a good scale in evaluating the functional health status in type 2 diabetes, and is suitable for Chinese patients in evaluating diabetes control.
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Objective To search the single nucleotide polymorphism (SNP) in exons of osteoprotegerin gene, and to analyse the relationship between SNP and bone mineral densities (BMD) in postmenopausal women. Methods Using PCR and direct sequencing to identify SNP and genotypes in 205 postmenopausal women. BMD at lumbar spine (L 2 4 ) and femoral neck (FN) were measured by dual energy X ray absorptiometry. Serum osteocalcin (BGP), osteoprotegerin (OPG), osteoprotegerin ligand (RANKL) and urinary N telopeptides of type Ⅰ collagen (NTx) were also measured. Results One SNP, G1181C, was found in exon 1 of OPG gene. The frequencies of G1181C genotypes in 205 postmenopausal women were 0.566, 0.346, and 0.088 for the genotypes GG, GC and CC respectively. BMD at lumbar spine (L 2 4 ) of CC genotype was significantly higher than GC and GG genotypes (P
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ObjectiveTo investigate the relationships between insulin-like growth factor-Ⅰ (IGF-Ⅰ) and osteoprotegerin (OPG), RANKL, and bone mineral density (BMD) in healthy women. MethodsBMD of lumbar spine and femoral neck were measured in 504 healthy women by dual energy X-ray absorptiometry and their serum levels of IGF-Ⅰ, OPG, RANKL were also determined. ResultsAge was negatively correlated with serum level of IGF-Ⅰ in healthy women (r=-0.702, P
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The diagnosis of primary hyperal dosteronism was discussed on the basis of clinical data of 164 cases: Among these, 74 cases were male, 90 cases were female, aged from 24 to 58 years. Aldostcronoma was found in 149 patients, adrenal carcinoma in 1, and adrenal hyperplasia in 14. Hypertension was present in all but 1 cases. Hypokaliemia was persistent in 72%, of the patients, and intermitent in 28%.An elevated aldosterone level in urine, scrum or saliva combined with suppressed plasma PRA and AT Ⅱ concentration, and the failure of the plasma PRA and AT Ⅱ to increase after a provocating stimulation were of great value in the diagnosis of primary hyperaldostcronism. If the blood pressure was decreased and the electrolytes disturbance were corrected after oral administration of spironolactone (240-400 mg/day) for more than two weeks, it was not only of diagnostic value for primary hyperaldosteronism, but also could be used as preoperative preparing measure for the surgery of aldosteronoma. There was a fall of plasma aldosterone after 4 hour upright posture in the morning in 12 out of 21 cases of aldosteronoma. Retro-peritoneal insufflation (81 cases) was of diagnostic value in only 24.7% of patients. Radioio-do-cholesterol scintigraphy of the adrenal glands correctly localise the adenoma in 91.2%, of 102 cases, the diagnostic accuracy of this method for adrenal hyperplasia was 64%. Adrenal ultrasonography successfully located the aldosteronoma in 75% of 32 cases.