Clinical and Genetic Analysis for 10 Patients with 17? Hydroxylase/17, 20 Lyase Deficiency / 上海第二医科大学学报

Objective To analyze the clinical and genetic characteristics of 10 Chinese patients with 17? hydroxylase/17,20 lyase deficiency (17OHD). Methods Clinical features and laboratory data were collected from 7 kindreds with 17OHD. PCR products and subclone sequencing were performed to screen the mutation of CYP17A1 gene. Results All patients had typical clinical presentation of sexual infantilism, hypertension and hypokalemia. The laboratory examinations indicated decreased plasma cortisol, 17-hydroxy progesterone, estradiol and testosterone, and elevated blood adrenocorticotrophic hormone(ACTH), follcie-stimulating hormone(FSH) and luteinizing hormone(LH). CT scan showed bilateral adrenal hyperplasia. 5 CYP17A1 mutations were identified, 4 of which are novel types D487_F489del, the most frequent mutation, was identified in 4 families and 45% alleles. Conclusion Our study indicates that 17OHD should be considered in the diagnosis of patients with sexual infantilism. D487_F489del is the most frequent mutation in Chinese 17OHD patients.

Relationship between body composition and bone mineral density in healthy premenopausal women / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the relative contribution of fat mass and lean mass on bone mineral density (BMD) in premenopausal healthy women.</p><p><b>METHODS</b>The BMD at lumbar spine, proximal femur and total body, together with fat mass and lean mass was determined by dual-energy X-ray absorptiometry (DEXA), the body height, weight, waist, and hip circumference were also measured, and body mass index (BMI) and waist-hip ratio were calculated in 282 premenopausal women.</p><p><b>RESULTS</b>Fat mass was a major determinant for BMI, BMI and lean mass were positively related with L2-4, proximal femur and total body BMD (P = 0.000 for all), and lean mass were the only independent factor contributing to L2-4 (standardized coefficient beta = 0.282, P = 0.000), proximal femur (beta = 0.336, P = 0.000) and total body BMD (beta = 0.361, P = 0.000) in stepwise regression analysis. The relationship between BMI and BMD was further improved after controlling fat mass, while decreased or even lost when controlling lean mass.</p><p><b>CONCLUSIONS</b>Lean mass was an important factor determining BMD in premenopausal women.</p>

Association of calcitonin receptor gene polymorphism with bone mineral density in Shanghai women / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the association of calcitonin receptor (CTR) gene polymorphism with bone mineral density (BMD) in premenopausal and postmenopausal women.</p><p><b>METHODS</b>CTR genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 184 premenopausal women and 199 postmenopausal women in Shanghai area. BMD at lumbar spine (L2-4) and femoral neck (FN) were measured by dual-energy X-ray absorptiometry (DEXA).</p><p><b>RESULTS</b>The distribution of CTR genotypes in 383 Shanghai women were CC genotype 83.8%, TC genotype 14.6%, TT genotype 1.6%, respectively. BMD at FN of CC genotype was significantly higher than TC and TT genotypes (P < 0.01) in postmenopausal women. But there was no difference in BMD of different CTR genotypes in premenopausal women. Multiple regression analysis showed that CTR genotypes were associated with FN BMD in postmenopausal women (P < 0.05).</p><p><b>CONCLUSIONS</b>The polymorphism of CTR gene was associated with BMD in postmenopausal women.</p>