Unadjusted and adjusted fracture risk assessment tool and the hip fracture risk in patients with type 2 diabetes / 中华内分泌代谢杂志

Objective:To evaluate and compare the clinical value of unadjusted fracture risk assessment tool(FRAX) and adjusted FRAX in predicting the risk of hip fracture in patients with type 2 diabetes(T2DM).Methods:In this 10-year retrospective cohort study, 1 730 patients with T2DM were collected from August 2009 to July 2013. The 10-year risk of hip fracture was calculated using the China FRAX model. Hip fracture events during the follow-up period were collected through electronic medical records and telephone interviews. The value of FRAX and adjusted FRAX in predicting the risk of hip fracture in T2DM patients was evaluated from two aspects of discrimination and calibration. Cox regression model was used to investigate the relationship between diabetes related factors and hip fracture.Results:A total of 39 participants(2.3%) experienced hip fracture during a median follow-up of 10 years. The area under the curve of unadjusted FRAX was 0.760, but the calibration ability was poor [calibration χ2: 75.78, P<0.001; calibration ratio(observation/prediction): 3.97(95% CI 2.76~5.17)]. There was no significant improvement in calibration ability of adjusted FRAX. After adjustment for unadjusted or adjusted hip fracture probability calculated by FRAX(FRAX-HF), duration, estimated glomerular filtration rate, insulin use, cerebrovascular diseases, and diabetic peripheral neuropathy were significantly associated with an increased risk of hip fracture( P<0.05). Conclusion:The FRAX tool significantly underestimated the risk of hip fracture in T2DM patients, and there was still significantly underestimation after adjustment due to the failure to eliminate the influence of diabetes-related factors such as disease duration and peripheral neuropathy.

Surgical exploration should be tried for patients with primary hyperparathyroidism even the imaging localization is uncertain / 中华内分泌代谢杂志

Primary hyperparathyroidism (PHPT) with negative or inconsistent imaging is a significant clinical problem. Surgery is the best chance in curing PHPT. Preoperative imaging is performed for lesion localization to help selecting the proper operative approaches. However,negative or inconsistent imaging could not exclude the diagnosis of PHPT and should not be ruled out the decision of operation. Therefore, for PHPT patients who had indication for surgery but with negative or inconsistent imaging result(s), it is better to transfer the patient to experienced center and surgeons for a proper surgical treatment.

Hypercalcemia in pregnancy:One case report / 中华内分泌代谢杂志

[Summary] Hypercalcemia in pregnancy is a rare condition which brings considerable risks to mother and fetus. The most common cause is primary hyperparathyroidism(PHPT). The untypical symptoms and biochemical tests results add obstacles in the diagnosis of PHPT during pregnancy. The management is difficult, due to restrictions in choices of treatments and lack of clinical guidelines. Severity evaluation which takes consideration of calcium homeostasis during pregnancy is crucial for appropriate management. Parathyroidectomy during the second trimester is recommended for those with high serum calcium levels.

A case of hypercalcemia complicated with hyperthyroidism / 中华内分泌代谢杂志

[Summary] A case of primary hyperparathyroidism ( PHPT ) complicated with Graves′disease was reported.The parathyroid lesion( s) could not be identified by repeated MIBI and ultrasonography tests.With the control of hyperthyroidism, medical therapies of hypercalcemia were still not effective, the serum calcium levels continued to be high.Thus, the decision to operate was made.The pathological findings confirmed the diagnosis of parathyroid adenoma.For PHPT patients with clear surgical indications, even though the pre-operative localizing tests are negative, operation is still worth to try.

Influences of multiple gene interactions on bone mineral density and osteoporotic fractures in postmenopausal women / 中华内分泌代谢杂志

Objective To investigate the effects of the genetic polymorphisms in osteoporosis-related genes and the gene-gene interaction on bone mineral density (BMD) and osteoporotic fractures.Methods Thirty-nine single nucleotide polymorphism (SNP) sites in 23 genes that related to bone mineral density ( BMD ) and osteoporotic fractures were scanned in 683 Shanghai Han postmenopausal women.TaqMan SNP Genotyping Assay or Sequenom Mass ARRAY System were applied for genotyping analysis.The relation of these SNP sites with BMD and osteoporotic fractures were analyzed.Results Altogether,12 SNPs in 9 candidate genes ( rs7524102 and rs6696981 in ZBTB40 gene,rs9479055 in ESR1 gene,rs6993813,rs6469804,and rs11995824 in OPG gene,rs3736228 in LRP5 gene,rs1107748 in SOST gene,rs87938 in CTNNB1 gene,rs1366594 in MEF2C gene,rs7117858 in SOX6 gene,and rs10048146 in FOXL1 gene) were associated with BMD at lumbar spine(L1-L4) or total hip.In addition,rs11898505 in SPTBN1 gene was related to osteoporotic fractures ( OR 0.522,95％ CI 0.326-0.838,P =0.007 ).Gene-gene interaction involving rs1038304 in ESR1 gene,rs1366594 in MEF2C gene,and rs10048146 in FOXL1 gene was associated with osteoporotic fractures ( P =0.010 7 ).Conclusions ( 1 ) SNPs in gene ZBTB40,ESR1,OPG,LRP5,SOST,CTNNB1,MEF2C,SOX6,FOXL1,and SPTBN1 are associated with BMD of lumbar spine or total hip,as well as osteoporotic fractures.(2) Gene-gene interaction involving rs1038304,rs1366594,and rs10048146may contribute to the risk of osteoporotic fractures.

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.

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

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