The advances of research on adrenal diseases from 2010 to 2012 / 中华内分泌代谢杂志

This article reviews the major advances of basal and clinical research on the adrenal diseases at home and abroad from 2010 to 2012.There are many advances including the diagnostic value of steroidogenic factor-1 in adrenal tumors,the pathogenesis and new diagnostic methods of aldosterone-producing adenoma,the treatment for severe ACTH-dependent Cushing's syndrome,approach to the patient with an adrenal incidentaloma and subclinical hypercortisolism,screening test for subclinical hypercortisolism in the patients with diabetes or osteoporosis,the characterization of macronodular adrenocortical hyperplasia of the zona reticularis,as well as genetic testing for pheochromocytoma and paragangliomas,etc.

Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase 3 deficiency / 中华内分泌代谢杂志

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.

Estrogen receptor gene polymorphisms and bone mineral density in Chinese postmenopausal women / 中华医学杂志(英文版)

<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>

Clinical and gene mutation studies on a Chinese pedigree with glucocorticoid-remediable aldosteronism / 中华医学杂志(英文版)

<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>

Effect of berberine on glucose transport in adipocyte and its mechanism / 中华内分泌代谢杂志

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.

Thoughts on the twentieth anniversary of Chinese Journal of Endocrinology and Metabolism / 中华内分泌代谢杂志

Directed by Chinese Medical Association and Society of Endocrinology and under the kind care and instruction of Prof. Zhu Xian-yi and Prof. Kuang An-kun (well-known clinical endocrinologists in China), with strong support from Shanghai Second Medical College and Ruijin Hospital, while the editorial board and Shanghai Institute of Endocrinology responsible for its editing and publication, Chinese Journal of Endocrinology and Metabolism (CJEM) started publication in 1985 and the present year we are happy to celebrate its twentieth anniversary. With the efforts of the whole members and staff of successive editorial board and editorial office, and with the enthusiastic submissions from experts and doctors of various disciplines over the country, CJEM has kept constant progress in the past years. Started as quarterly, CJEM has moved forward to be a bimonthly journal, with expanded length and increased number of articles on each volume as well as rising impact factor. To our joy, CJEM has become an important field for academic exchanges among scientists and clinicians engaged in endocrinology. Importantly, CJEM has gradually formed its unique characteristics. Articles are classified according to different topics which are closely related to key breakthroughs in the field of endocrinology. It supports academic contention, provides field for basic research and reports conference summaries in time. I sincerely hope CJEM could make vigorous efforts to get more and more improvements in the future, making greater contribution to the development of endocrinology in China.

Relationships between insulin-like growth factor-Ⅰ and osteoprotegerin, RANKL, and bone mineral density in healthy women / 中华内分泌代谢杂志

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

Contribution of evidence-based medicine to the diag nosis of diabetes and existing disaccord / 中华内分泌代谢杂志

Based on prospective epidemiologi ca l studies concerning the relationship between glycemic values during oral glucos e tolerance test (OGTT) and the incidence of diabetic retionpathy, the diagnosti c criteria recommended by National Diabetes Data Group (NDDG)/World Health Organ ization (WHO) (1979/1980) have been worldwidely accepted as the uniform diagnosi s for diabetes mellitus.According to the epidemiological data accumulated since the early eighties of the 20th century on the inter-relationship between the le vels of fasting plasma glucose (FPG) and OGTT 2 hour glycemic values, American D iabetes Association (ADA)/WHO (1997/1999) recommended the diagnostic FPG be decr eased to 7.0 mmol/L, but disaccord exists with regard to the use of OGTT for the diagnosis of diabetes. Further evidence-based medical studies are needed to so lve this problem.

Association between the G1181C polymorphism of osteoprotegerin gene and bone mineral density in postmenopausal women / 中华内分泌代谢杂志

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