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Aromatase deficiency (AD) is a rare autosomal recessive genetic disease caused by loss-of-function mutations in aromatase gene (CYP19A1), leading to congenital estrogen deficiency syndrome. Both mothers of AD patients during pregnancy and female AD fetus show virilization, while male patients are usually diagnosed in adulthood due to continued height increase and metabolic abnormalities. In 2019, a patient with AD was admitted in the Second Xiangya Hospital. The patient was a 37-year-old adult male who continued to grow linearly after adulthood. His estradiol was below the measurable line, the follicle-stimulating hormone (FSH) increased, bone age delayed, epiphysis unfused, and the bone mass reduced. CYP19A1 gene detection showed that c.1093C>T, p.R365W was homozygous mutation. This disease is rare in clinic. Clinicians need to raise awareness of the disease for early diagnosis and treatment to improve the long-term prognosis of patients.
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Adult , Female , Humans , Male , Pregnancy , 46, XX Disorders of Sex Development/genetics , Aromatase/metabolism , Gynecomastia/genetics , Infertility, Male , Metabolism, Inborn Errors , MutationABSTRACT
Fibroblast growth factor 23 (FGF23) is a new endocrine factor, mainly expressed in osteoblasts and osteoblasts. Many studies have found that FGF23 can act on kidney, parathyroid and other tissues after binding with Klotho protein, and participate in bone mineral metabolism. In addition, in recent years, the role of FGF23 in exoskeleton has been gradually discovered, such as FGF23 and thyroid diseases, diabetes and so on. Therefore, understanding the biological characteristics, regulatory mechanism of FGF23 and its relationship with related diseases is of great clinical significance for the diagnosis and treatment of diseases. This article reviews the relationship between FGF23 and metabolic diseases such as phosphorus metabolic disease, parathyroid disease, hyperthyroidism, osteoporosis, diabetes, iron metabolism and so on.
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Vitamin D can regulate calcium and phosphorus metabolism and maintain bone health. In recent years, more and more studies have shown that vitamin D and its receptors have the potential to protect diabetic nephropathy. Animal studies and clinical trials have shown the correlation between vitamin D levels and the risk of diabetic nephropathy. Supplementation of vitamin D or its analogs can improve endothelial cell damage, reduce inflammation, proteinuria, and renal fibrosis and thus delay the process of diabetic nephropathy. Therefore, vitamin D and its receptor are expected to become a new choice for the prevention and treatment of diabetic nephropathy. This review summarizes the new research progress of vitamin D on the protective mechanism of diabetic nephropathy.
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Clitoris lesion is most readily classified into hormone-dependent and hormone-independent cause. It can also be characterized as congenital or acquired nature. Clitoromegaly is the most common presentation of clitoral lesions clinically. Hormone-dependent clitoromegaly is mainly attibuted to the increase of androgen, while the most comomon cause of hormone-independent clitoromegaly is neurofibromatosis. Except that, there are so many other disorders which can cause clitoromegaly, leading to the difficulty for diagnosis. However, the literature concerning the management of clitoromegaly is scarce.The present study summarized the lesions of clitoromegaly from the etiology, diagnosis, and differential diagnosis to treatment. This may help clinicians to make a reasonbale management when facing this kind of disease.
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Objective@#To observe the changes in bone mineral density and microstructure parameters in sclerostin (SOST) gene knockout mice treated with glucocorticoid.@*Methods@#12 4-week-old SOST knockout mice were randomly divided into two groups (n=6): methylprednisolone intervention group [SOM group, methylprednisolone 3 mg/(kg·d), subcutaneous injection], placebo group (SOS group, isovolumetric saline subcutaneous injection). 12 wild-type mice were randomly divided into two groups (n=6): wild-type placebo group (WTS group, isovolumetric saline subcutaneous injection), wild methylprednisolone intervention group [WTM group, methylprednisolone 3 mg/(kg·d), subcutaneous injection]. 12 weeks later, mice were sacrificed and one lumbar vertebra of each mouse was selected for micro-CT analysis.@*Results@#There was no difference in bone mineral density (BMD), trabecular volume fraction, trabecular number and trabecular thickness between SOM and SOS groups (P>0.05). BMD, trabecular volume fraction, trabecular number and trabecular thickness in SOM and SOS groups were significantly higher than those in WTS and WTM groups (P<0.05). BMD, trabecular volume fraction, trabecular number and trabecular thickness in WTM group were significantly lower than those in WTS group (P<0.05).@*Conclusions@#Sclerotin gene knockout mice can resist glucocorticoid-induced bone loss and bone microarchitectural deterioeration. The treatment of osteoporosis with SOST/sclerotin as a target will be an effective method in the future.
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Objective To observe the changes in bone mineral density and microstructure parameters in sclerostin (SOST) gene knockout mice treated with glucocorticoid.Methods 12 4-week-old SOST knockout mice were randomly divided into two groups (n =6):methylprednisolone intervention group [SOM group,methylprednisolone 3 mg/(kg· d),subcutaneous injection],placebo group (SOS group,isovolumetric saline subcutaneous injection).12 wild-type mice were randomly divided into two groups (n =6):wild-type placebo group (WTS group,isovolumetric saline subcutaneous injection),wild methylprednisolone intervention group [WTM group,methylprednisolone 3 mg/(kg · d),subcutaneous injection].12 weeks later,mice were sacrificed and one lumbar vertebra of each mouse was selected for microCT analysis.Results There was no difference in bone mineral density (BMD),trabecular volume fraction,trabecular number and trabecular thickness between SOM and SOS groups (P ＞ 0.05).BMD,trabecular volume fraction,trabecular number and trabecular thickness in SOM and SOS groups were significantly higher than those in WTS and WTM groups (P ＜0.05).BMD,trabecular volume fraction,trabecular number and trabecular thickness in WTM group were significantly lower than those in WTS group (P ＜ 0.05).Conclusions Sclerotin gene knockout mice can resist glucocorticoid-induced bone loss and bone microarchitectural deterioeration.The treatment of osteoporosis with SOST/sclerotin as a target will be an effective method in the future.
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Objective To explore the association of nocturnal serum cortisol levels with diabetic microvascular complications in overweight or obese patients with type 2 diabetes mellitus. Methods Serum cortisol levels of 316 overweight or obese type 2 diabetic patients were tested at midnight by the method of chemiluminescence. Diabetic microvascular complications were compared among various groups according to nocturnal serum cortisol levels. All the patients with nocturnal serum cortisol level > 50 nmol/L were asked to undergo overnight low-dose dexamethasone suppression test to rule out the possibility of subclincal Cushing's syndrome. The incidences of diabetic nephropathy ( DN ) , diabetic retinopathy ( DR ) , and diabetic peripheral neuropathy ( DPN ) were examined in all the patients. Results (1)The incidence of DN was gradually increased from 13.3％to 27.7％and 44.2％in patients with low, medium, and high cortisol level groups, showing a statistical difference among 3 groups ( P<0.05) . The incidences of DR in medium and high cortisol level groups were higher than that in low cortisol level group (40.6％and 47.7％vs 22.7％, both P<0.01). The incidence of DPN in high cortisol level group was higher as compared with low cortisol level group (60.5％ vs 38.7％, P<0.01). (2) Nocturnal serum cortisol level in patients with diabetic microvascular complications was higher than that in patients without complications [ (136.87 ± 105.78 vs 97.55 ± 93.48) nmol/L, P<0.01]. Nocturnal serum cortisol level in patients with multiple diabetic microvascular complications was higher than that in patients with single diabetic microvascular complication [ (151.66±114.54vs117.69±90.26)nmol/L,P<0.05].(3)Singlefactorlogisticregressionanalysisshowedthat higher nocturnal serum cortisol level was a risk factor for diabetic microvascular complications in addition to female, age, longer diabetic duration, higher fasting plasma glucose ( FPG ) . Multivariate logistic regression analysis showed that higher nocturnal serum cortisol level was still a risk factor for diabetic microvascular complications after adjusted by diabetic duration, FPG, HbA1C, and the use of insulin (P=0.013). Conclusion Nocturnal serum cortisol level seems to be a risk factor for diabetic microvascular complications in overweight or obese patients with type 2 diabetes mellitus.
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Objective To observe the analgesic effect of ultrasound-guided and nerve stimulator after artificial total knee athroplasty(TKA).Methods Forty elective cases receiving TKA under gen-eral anesthesia were randomly allocated into the ultrasound group (group C)and stimulator group (group S).The time for nerve block,onset time and complications were recorded in both groups. Results Compared to group S,the time for nerve block and onset time was significantly shortened in group C (P <0.05).There was no statistical difference in times of pressing analgesic pump and VAS score in postoperative 48 h.One patient suffered from nerve injury and two underwent vascular dam-age and hematoma in group S,while no complication was found in group C.Conclusion Compared to nerve stimulator,ultrasound-guided continuous femoral nerve block(CFNB)may reduce nerve block time and onset time and decrease complications,so that to increase safety of CFNB.
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The FRAX (Fracture Risk Assessment Tool) calculator is an application of different clinical risk factors to predict the absolute risk of fracture.It is the model based on a series of data of evidence-based medical researches on fracture risk factors.FRAX is limited by a number of factors.However,it is a major achievement in terms of our understanding and measuring fracture risk.
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Bisphosphonates have been efficacious in preventing bone loss and reducing fractures in men and postmenopausal women with osteoporosis.Possible risks of osteonecrosis of the jaw and atypical femur fractures have been reported with bisphosphonates treatment,despite these incidences are very low.Oral bisphosphonates are associated with upper gastrointestinal side effects and iv bisphosphonates with acute phase reactions,the association of bisphosphonate use with esophageal cancer and atrial fibrillation is not well supported by current data.
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Bisphosphonate,as a first line medicine for treating osteoporosis,has been efficacious in reducing the incidences of fractures and some tumors.Although severe side effects such as osteonecrosis of the jaw (ONJ) and atypical fracture of femur would take place,its very low incidence does not affect the current status of bisphosphonates in the treatment of osteoporosis.
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Objective The aim of this study was to investigate the femoral head trabecular heterogeneity in Chinese male patients with osteoporotic fracture and their effects on osteoporotie fracture.Methods Human femoral heads were obtained from 11 male osteoporotie fracture (OP) patients ranged from 51 to 82 years old [average age (65±9 ) years old], and 7 male trauma ( TM ) patients ranged from 46 to 75 years old [average age (61±11 ) years old] who underwent total hip arthroplasty within two hours after either osteoporotic or trauma hip fracture.The OP was defined as having a fragility fracture.After laying femoral head as living body position and locating mark, nine trabecular specimens were obtained from femoral heads, each of 6 mm × 6 mm× 7 mm.The cortical shell was not included in each specimen.One cube was selected as the primary compressive trabecular region and the other 8 specimens as non-primary compressive trabecular region.These cubes were scanned using high-resolution microcomputed tomography scanner (μCT).After scanning, the data of total cubes, primary compressive trabecular region and noncompressive trabecular region were used for analysis by t test.Results In OP group volumetric bone mineral deosity(vBMD) [( 182.15±66.00) mg/mm3 vs (223.97±70.92) mg/mm3, t =3.041], tissue bone mineral density (tBMD) [(538.76±64.72) mg/mm3 vs (580.01±63.86 ) mg/mm3, t = 3.160],bone volume fraction (TV/BV) [(0.22 ± 0.06) % vs (0.26 ± 0.07 ) %, t = 2.821], trabecular thickness (Tb.Th.) [( 161.07 ±42.75 ) μm vs ( 205.47 ± 74.44 ) μm, t = 3.233] were significantly decreased while bone surface/bone volume ( BS/BV ) [( 13.75 ± 2.55 ) mm-1 vs ( 12.28 ± 2.70 ) mm-1, t =-2.777] was significantly increased in the non-primary compressive trabecular region than that in the primary compressive trabecular region ( P < 0.05 ).vBMD [( 182.15 ± 66.00) mg/mm3 vs ( 248.05 ±105.48) mg/mm3, t = - 3.598], tBMD [(538.76 ± 64.72) mg/mm3 vs ( 570.54 ± 100.32) mg/mm3,t=-2.108],TV/BV [(0.22±0.06) % vs (0.28±0.12) %, t= -3.466], Tb.Th.[(161.07±42.75) μm vs (200.31 ±96.63) μm, t= -2.866], trabecular number (Tb.N.)[(1.46±0.23)/mm3 vs ( 1.57 ± 0.29)/mm3, t = - 2.396] were significantly decreased while trabecular separation ( Tb.Sp.) [(780.82 ± 144.85 )μm vs ( 653.09 ± 119.64) μm, t = 5.470], degree of anisotropy (DA) ( 1.57±0.20 vs 1.47±0.18, t = 2.930 ) were significantly increased in OP than in TM in the non-compressive trabecular region( P < 0.05 ).No significant differents were found between OP and TM for any of the parameters measured in the primary compressive trabecular region.Tb.Th.[(199.37±68.22)μm vs (176.33 ±71.21 )μm, t = 2.060,P < 0.05] were significantly increased in the primary compressive trabecular region than that in the non-primary compressive trabecular region and no significant differences were found in the other parameters in the all 18 specimens.Conclusions The femoral head trabeculae had a heterogenic distribution in OP.Bone loss in OP primarily takes place in non-compressive trabecular region.Femoral neck fracture cannot be prevented though the bone microstructure do not loss in the primary compressive trabecular region.Tb.Th.in the femoral head could be an interesting parameter which is closely related to the femoral neck fracture.
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Objective To investigate osteocyte density as a potential index of bone biomechanical property. Methods Forty 7-month-old female Sprague-Dawley rats were randomly group (EST) and sham operation group (SHAM). At 15 weeks postoperation, the compression test was performed on L5 vertebral body and micro-computed tomography (μ-CT) was used to estimate the three-dimensional bone mineral density (BMD) and three-dimensional microstructure parameters of L6 vertebral body. After fatigue damage testing, the L6 vertebral body was bulk-stained in 1% basic fuchsin and embedded in methylmethacrylate. Mounted bone slices were used to measure microcrack parameters and osteocyte density. Results At 15 weeks postoperation, osteocyte density (Ot. N/T. area) was significantly decreased in OVX group compared with SHAM group and EST group [(1268. 1 ±191.2)/mm2 vs. (1760. 8 ± 376.6)/mm2 and (1550. 9± 202.2)/mm2, F = 3.513,P<0. 05]. Maximum load (ML) was significantly decreased and the length of microcrack (Cr. Le) was significantly increased in OVX group compared with SHAM group, EST group and GEN group [(84. 4±16.9)N vs. (110.3±25.6),(103. 9±15. 8)and(110.1±4. 9)N; (58. 1±6.8) μm vs. (24.2±8. 1), (36. 5±9. 7)and(28.5±7. 5)μm, F=9. 561,3. 179, all P<0. 05]. Compared with SHAM group and EST group, bone trabecula connection density (Conn. D) was significantly decreased and trabecular separation (Tb. Sp) was significantly increased in OVX group [(47.4±7.4) m-3 vs. (71.8±16.0)and (74.0±12.7)m-3;(315.0±32.7)μm vs. (222. 5±21.7)and (273.3± 50.0)μm, F=7. 635,7. 007, all P<0. 05]. Bone mineral content (BMC) was lower in OVX group than that in SHAM group[(6.5±2. 2)g vs. (7. 9±1.2)g, P<0. 05]. When data in four groups were overall analyzed, Ot. N/T. Ar was positively correlated with ML, Conn. D and BMC (R2 = 0. 7874, 0. 1153, 0. 1309, all P<0. 05), but was negatively correlated with Cr. Le and Tb. Sp (R2 =0. 5738, 0. 3964, both P < 0.05). Conclusions Osteocyte plays a crucial role in maintaining bone biomechanical property and osteocyte density may be considered as a useful indicator for assessing bone biomechanical property.
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Objective To observe and compare the changes of bone mass and microarchitecture in ovariectomized rat left tibia by dual energy X-ray absorptiometry(DXA)and microCT(μCT).Methods Forty seven-month-old SD rats were randomly divided into ovariectomized(OVX)and sham-operated(SHAM)groups,twenty in each group.After killed at 3 weeks and 15 weeks post-surgery,DXA scanning were performed in the left tibia in vitro.The images of left tibia were divided into seven isometric regions of interest(ROI1-7).When analysis finished,bone density(BD)of each ROI and the total bone were determined.The samples were fixed by 4% paraformaldehyde and then placed in the specimen holder filled with deionized water.The sensitive regions for bone mass changes were selected for scanning by Fluro.After scanning,the regions involving 0.4mm slice thickness and 2.5mm distance far end from tibial growth plate were selected as the ROI of cortical bone analysis.The regions selected as ROI of cancellous analysis,were involved in 1.2mm slice thickness and 0.7mm distance at the far end from tibial growth plate.After three dimension reconstruction.2D images of the maximum intensity projection and pictures of 3D microarchitecture were obtained.and BD and microarchitectural parameters were quantitatively identified.All data was statistically processed with SPSS for Windows.Results At the 3rd week,BD of ROI1 in rat left tibia in OVX(0.2346±0.0280)g/cm2 was much lower than that(0.2660±0.01990)g/cm2 in SHAM(P＜0.05).While at the 15th week,BD of ROI1(0.2527±0.0161)and ROI2(0.1862±0.0052)g/cm2 in OVX were both lower than SHAM(0.2793±0.0229)and(0.1986±0.0102)g/cm2 respectively,P＜0.01 for both).Compared wim SHAM rat[cortical area(Ct-Ar)=(0.3138±0.0621)mm2,marrow area(Ma-Ar)=(8.44±1.25)mm2,total area(T-Ar)=(8.75±1.26)mm2,moment of inertia(Mm)=(3.485±0.373)mm4],there were significant increases in Ct-Ar(0.4306±0.1308)mm2,Ma-Ar(10.31±1.98)mm2,T-Ar(10.74±2.05)mm2,and Mm(4.101±0.726)mm4 in OVX mice at the 3rd week(P＜0.05 for all).While at the 15th week,only cortical thickness(Ct-Th)(0.0235±0.0024)mm showed a decrease in OVX group(P＜0.05).In OVX group,Ct-Th(0.0235±0.0024)mm and Ct-Ar(0.2528±0.0367)mm at 15 weeks were lower than that[Ct-Th=(0.0377±0.0098)mm,Ct-Ar=(0.4306±0.1308)mm2 at 3 weeks(P＜0.01 for both)].In SHAM group,inner perimeter(In-Pm)(13.38±0.54)mm,outer perimeter(Ot-Pm)(13.59±0.56)mm and Mm(4.096±0.364)mm4 at 15 weeks were higher than that[In-Pm=(12.41±0.74)mm,Ot-Pm=(12.63±0.75)mm,Mm=(3.485±0.373)mm4 at 3 weeks(P＜0.01 for all)].OVX rats had much lower volume BD(vBD)(288.2±48.2)mg/mm3,tissue BD(tBD)(604.5±45.3)mg/mm3,bone volume fraction(BVF)(25.1±5.1)%,and trabecular mumeer(Tb-N)(6.04±2.94)mm-1(P＜0.01 for all),but higher structure model index(SMI)3.09±0.27 and trabecular separation(Tb-Sp)(0.186±0.129)mm than SHAM 2.63±0.21 and(0.078±0.038)mm respectively at the 3rd week(P＜0.01 and P＜0.05 respectively).At the 15th week,vBD(271.2±50.9)mg/mm3,BVF(21.6±5.2)%and Tb-N (3.21±1.92)mm-1 in OVX were still lower than SHAM[vBD=(389.8±77.0)mg/mm3,BVF=(30.9±6.0)%,Tb-N=(7.44±3.53)mm-1 respectively(P＜0.01 for all)],SMI 3.11±0.36 and Tb-Sp(0.370±0.215)mm in OVX were also higher than SHAM 2.58±0.36 and(0.141±0.104)mm(P＜0.01 for both),but no significant difference of tBD could be found.In OVX group.the scores of tBD(691.0±36.7)mg/mm,Tb-Th(0.040±0.009)mm,Tb-N(3.21±1.92)mm-1,Tb-Sp(0.370±0.215)mm in the 15th week were higher than that[tBD=(604.5±45.3)mg/mm,Tb-Th=(0.030±0.002)mm,Tb-N=(6.04±2.94)mm-1,Tb-Sp=(0.186±0.129)mm respectively]in the 3rd week (P＜0.05 for all),while there were no differences between the 3rd and the 15th week in SHAM group.Conclusions DXA is weak in detecting the tiny changes of BD though it is convenient and non-invasive.μCT is suitable to detect the changes of bone mass and microarchitecture.