OBJECTIVE:To analyze the clinical data of 14 patients with androgen-secreting ovarian sex cord-stromal tumors (OSCSTs), a rare cause of female hyperandrogenism (HA), aiming to enhance differential diagnosis and reduce misdiagnosis of these diseases. METHODS:Fourteen female patients with pathologically confirmed OSCSTs were retrospectively enrolled in this study.General clinical data were retrospectively collected from medical records, encompassingclinical manifestations, diagnostic and therapeutic interventions. A systematic literature review about the management of OSCSTs were performed. RESULTS:Among 14 female patients with OSCSTs, age ranged from 12 to 69 years (mean ± SD: 34.4 ± 20.1 years), with symptom duration prior to diagnosis spanning 1-6 years (2.3 ± 1.4 years). Adolescent and reproductive-aged patients (n = 10) universally exhibited oligomenorrhea/amenorrhea with virilization, while postmenopausal patients (n = 4) presented with virilization alone. Preoperative testosterone levels were markedly elevated in all these patients (range 3.90-119.6 nmol/L; normal: 0.2-2.6). Imaging evaluation revealed ovarian masses on ultrasound in 78.6% (11/14) of cases. After complete tumors resection, testosterone reduced significantly to 0-6.51 nmol/L within 48 hours with complete resolution of hyperandrogenism symptoms. Adjuvant chemotherapy was administered in two patients with moderately/poorly differentiated Sertoli-Leydig cell tumors (Ki67 >30%). At one-month follow-up, testosterone normalized (0.5-2.6 nmol/L) in all patients with concomitant resolution of menstrual irregularities and improvement in virilizing symptoms. CONCLUSION:OSCSTs are rare but clinically significant causes of hyperandrogenism, characterized by symptoms of HA such as oligomenorrhea, acne, hirsutism, and clitoromegaly. It has always been misdiagnosed due to overlapping features with PCOS and adrenal disorders. Early identification and complete surgical resection are critical for biochemical remission and symptom resolution.

原发性低镁血症伴继发性低钙血症（HSH）是一种罕见的常染色体隐性遗传病，是由于M型瞬时受体电位通道6（TRPM6）基因突变引起镁代谢障碍导致的。本文报道1例婴儿期起病的HSH患者的临床诊治经过及基因突变情况。患者表现为反复发作抽搐，伴颜面麻木、心悸、眼震等症状，化验检查显示持续严重低镁血症、低钙血症、低甲状旁腺激素血症；18岁时经基因检测发现存在TRPM6基因新发复杂杂合突变位点c.5083+1G>C和c.3209+2T>C。

This study aimed to elucidate the potential relationship between central serous chorioretinopathy (CSC) and both endogenous hypercortisolism and the administration of exogenous corticosteroids. Case 1 involved a 39-year-old female patient who presented with blurred vision and metamorphopsia. Ophthalmologic examinations confirmed bilateral CSC. Biochemical and clinical evidence suggested hypercortisolism, and abdominal computed tomography revealed an adrenal adenoma, leading to a diagnosis of adrenocorticotropin-independent Cushing syndrome (CS). Postoperatively, a regression of serous retinal detachments was observed within 6 weeks. Case 2 referred to a 60-year-old male patient with hyperthyroidism and Graves orbitopathy who experienced vision loss after intravenous administration of 4.5 g of methylprednisolone over 10 weeks. Vision deteriorated after glucocorticoid therapy but improved 6 months later on discontinuation. Subsequently, the patient received peribulbar injections of triamcinolone acetonide, resulting in acute vision loss, with ophthalmologic examinations confirming CSC. After the cessation of exogenous corticosteroids, CSC resolved, and retinal pigment epithelium detachment also resolved at 3 months. Although causality cannot be definitively established with only 2 cases, the spontaneous resolution of subretinal fluid following corticosteroid withdrawal is highly indicative. The use of both endogenous hypercortisolism and exogenous corticosteroids is implicated as a risk factor for CSC, warranting increased vigilance from endocrinologists.

Objective:This study aimed to analyse the etiology and clinical characteristics of hypercalcemic crisis in a large cohort of Chinese patients and summarised our clinical experience in the management of this serious endocrinological emergency. Methods:This was a retrospective analysis of a cohort of patients with hypercalcemic crisis hospitalized in the First Medical Center of Chinese PLA General Hospital between January 2009 and March 2024. The general data, clinical manifestations, etiology, photographic examination, emergency treatment, etiological treatment, and prognosis were analysed. Results:A total of 155 patients with hypercalcemic crisis (91 males and 64 females) with a mean age of 54.60 ± 16.99 years old were enrolled. The most frequent disease-causing hypercalcemic crisis was hyperparathyroidism (41.94%), followed by solid malignancy (41.29%) and multiple myeloma (9.03%), et al. Patients mainly presented with symptoms of the digestive system (78.10%), nervous system (63.30%), skeletal system (59.60%), urinary system (59.50%), and cardiovascular system (34.90%). These 155 patients with hypercalcemic crisis got effective therapies that included simultaneous administration of intravenous injection (IV) isotonic saline, subcutaneous calcitonin, bisphosphonate, or hemodialysis in serious cases. After emergency treatment, all the symptoms in the patients were relieved obviously. The cure rate of hypercalcemic with etiological treatments was 84.50% (131/155). Conclusion:Hypercalcemic crisis is a serious endocrinological emergency with a variety of etiologies and a high risk of mortality. A prompt diagnosis and the implementation of a comprehensive and effective treatment can efficiently alleviate this endocrinological emergency. Etiological treatment targeting different causes can improve prognosis significantly.

患者女性，39岁，临床表现为右眼视力下降、眼胀、眼痛、脸变圆、体重进行性增加，首诊于眼科，诊断为中心性浆液性脉络膜视网膜病变；后经实验室检查、肾上腺增强CT检查等诊断为肾上腺皮质腺瘤引起的库欣综合征。行肾上腺肿瘤切除术后患者视力及眼底检查明显好转，提示中心性浆液性脉络膜视网膜病变可能是内源性库欣综合征的罕见表现，二者具有潜在的关联。.

The clinical data, laboratory test, and gene mutations were collected from a family with Liddle syndrome. Literatures on Liddle syndrome published in domestic and abroad since 1994 were reviewed and the types of gene mutations were summarized. The proband was diagnosed with hypertension at the age of 24. Laboratory test showed that serum potassium was 3.65 mmol/L, plasma renin was <0.5 mU/L, and plasma aldosterone was 1.5 ng/dL. Proband′s father was diagnosed with hypertension at the age of 34 with the serum potassium 3.34 mmol/L, plasma renin 3.72 mU/L, and plasma aldosterone 6.04 ng/dL. A nonsense mutation(1724G>A, p.Trp575*) in exon 13 of SCNN1G gene was detected in the proband and his father. In 288 cases from 107 families reported in the review of domestic and foreign literature, the incidence of hypertension, hypokalemia, and low renin/low aldosterone were 95.1%, 55.2%, and 49.6%, respectively. This case suggests that the clinical phenotype of Liddle syndrome is heterogeneous. Patients with early-onset hypertension, regardless of whether they are accompanied by hypokalemia, should be screened for renin-angiotensin-aldosterone and genetic testing related to Liddle syndrome should be further detected in patients with low plasma renin/aldosterone.

肿瘤性骨软化症是一种副肿瘤综合征,以低血磷、高尿磷、血钙及甲状旁腺素正常、1,25-二羟维生素D3[1,25-dihydroxyvitamin D3,1,25(OH)2D3]正常或偏低、成纤维细胞生长因子23(fibroblast growth factor 23,FGF-23)升高为主要特征,经过手术治疗可获得根治.其多灶病例非常罕见.现报道多灶性肿瘤骨软化1例并文献复习,探讨该特殊情况下的处理策略.

报道1例ATP敏感性钾通道（ K ATP）基因突变所致青少年起病的成人型糖尿病（MODY）患者的诊疗经过。患者为24岁女性，健康体检偶然发现血糖升高及尿糖（++++）、尿蛋白（+++）。患者对磺脲类药物治疗敏感，临床疑诊MODY。通过全外显子组高通量测序对患者及其父母进行 KCNJ11基因突变位点筛查并使用生物信息学蛋白功能预测软件进行功能预测分析，发现患者及其父亲携带 KCNJ11（NM_000525.3）c.11G>A（p.Arg4His）杂合突变。患者使用小剂量磺脲类药物治疗，随访血糖控制良好。其父亲的高血糖通过饮食控制及规律运动，获得良好控制。结合患者诊疗经过和相关文献报道，提示临床在MODY的临床诊断上应加强与非典型1型糖尿病（T1DM）和2型糖尿病（T2DM）的鉴别，以提高患者生活质量。

正确分型诊断是原发性醛固酮增多症（PA）治疗决策的基础，也是临床难点。肾上腺静脉取血（AVS）一直是PA分型诊断的金标准。基于液相色谱串联质谱法（LC-MS/MS）的类固醇激素谱检查近年在肾上腺疾病诊治中愈发多见。本文报道1例影像上表现为双侧肾上腺病变的PA行AVS联合类固醇激素谱检查完成诊治，并对病例特点、诊治过程进行总结讨论和文献复习，以期为PA的分型诊断和精准治疗提供更多证据及思路。.

患者女性，20岁，糖尿病伴多囊卵巢综合征病史6年。发病初期使用胰岛素皮下注射治疗效果佳，后停用胰岛素使用口服药治疗。近1年因血糖异常升高再次启用胰岛素皮下注射治疗，但超大剂量胰岛素皮下注射血糖控制不佳；实验室检查示空腹胰岛素轻度升高，未发现拮抗胰岛素激素水平增高的内分泌疾病，基因检测未见异常突变；静脉胰岛素输注可将血糖控制达标。最终诊断为2型糖尿病合并皮下胰岛素抵抗综合征。使用二甲双胍、恩格列净联合肌肉注射胰岛素，患者血糖控制平稳。

Objective: To explore the characteristics of the association between the triglyceride glucose (TyG) index and nonfatal cardio-cerebrovascular disease risk in a community population. Method: This was a prospective cohort study. From December 2011 to April 2012, the first investigation was conducted among subjects with more than 40-year old who were from Shijingshan district and Pingguoyuan community in Beijing. The second investigation was conducted from April to October 2015. All the subjects were divided into three groups according to the tertile of the TyG index at baseline. The multivariate Cox proportional risk regression model was established to explore the correlation between the TyG index and nonfatal cardio-cerebrovascular disease risk and the Kaplan-Meier survival curve of the TyG index group was drawn. Subgroup analyses were performed according to age, gender, body mass index, type 2 diabetes mellitus (T2DM), hypertension, and hyperlipidemia to determine the correlation characteristics between the TyG index and nonfatal cardio-cerebrovascular disease among subgroups. Results: A total of 9 577 subjects were finally included to analyze. The mean follow-up time of this study was (34.14±3.84) months. During the follow-up, 363 subjects (3.8%) occurred nonfatal cardio-cerebrovascular disease. The multivariate Cox regression analysis results showed that the hazard ratio (HR) of nonfatal cardio-cerebrovascular disease in the high TyG index group was 1.54 (95%CI 1.19-1.98), 1.60 (95%CI 1.23-2.10), and 1.57 (95%CI 1.20-2.05) in the three models, compared with the low TyG index group. The Kaplan-Meier analysis showed that the risk of nonfatal cardio-cerebrovascular disease increased from the low-TyG index group to the high-TyG index group (P=0.015). In the six subgroups analysis, only gender was shown to have a significant interaction effect with the TyG index and nonfatal cardio-cerebrovascular disease risk. In the female population, the risk of nonfatal cardio-cerebrovascular disease is significantly increased with the increase in the TyG index level (P<0.001). Conclusions: A high TyG index is independently related to the increased risk of nonfatal cardio-cerebrovascular disease in the Beijing community population. Gender has a significant interaction with the TyG index and nonfatal cardio-cerebrovascular disease risk. Therefore, the TyG index may be a useful marker to predict the nonfatal cardio-cerebrovascular disease risk of a community population.

Objective:To analyzed clinical characteristics of pituitary growth hormone(GH) adenomas patients with different responses to oral glucose inhibitory GH test.Methods:The clinical data of 50 patients with pituitary GH adenomas newly diagnosed with complete test data and case data in the Department of Endocrinology of Chinese PLA General Hospital was retrospectively analyzed from 2016 to 2021. The cases were divided into two groups according to the cutoff point of GH elevating to 50% of basaline during oral glucose test: abnormal elevation group(A group, n=16) and non-elevation group(B group, n=34). The clinical features, biochemistry, iconography, and immunohistochemistry of the two groups were analyzed. Results:The serum total cholesterol(TC)[(3.9±0.8) vs (4.6±0.9)mmol/L], 120 minutes insulin after glucose loading [11.2(4.4, 25.0) vs 92.0(10.8, 311.8)mU/L], long [1.0(0.4, 2.1) vs 1.5(0.5, 7.3) cm] and short[0.6(0.3, 1.3) vs 1.0(0.5, 5.8)cm] diameters of adenomas in A group were less than those in B group(all P<0.05) while insulin-like growth factor Ⅰ(IGF-Ⅰ) level was higher [(908.2±233.7) vs (743.1±273.1) ng/mL, P<0.05]. There were no significant differences in sex, age, disease course, clinical features, random GH, homeostasis model assessment of insulin resistance index(HOMA-IR), pituitary adenoma site, and invasive properties between the two groups. The immunohistochemical positive rates of ACTH(33% vs 0%) and prolactin(100% vs 28.6%)in A group were higher than those in B group( P<0.05). Conclusion:Pituitary GH adenomas patients with a paradoxical GH response pattern display lower serum TC and 120 minutes insulin levels as well as higher IGF-Ⅰ concentration and proportion of pituitary microadenomas. " Pure" growth hormone tumors may represent entities of a particular class of diseases in acromegaly.

目的 通过比较原发性色素性结节样肾上腺皮质病(PPNAD)、原发性双侧肾上腺大结节增生(PBMAH)和肾上腺皮质腺瘤(ADA)三种疾病的地塞米松抑制试验后尿游离皮质醇变化比值,探讨PPNAD患者的鉴别诊断切点.方法 收集2008年1月-2020年12月于解放军总医院第一医学中心住院病理明确诊断为PPNAD(7例)、PBMAH(31例)及ADA(130例)患者的临床资料进行回顾性分析.通过受试者工作特征(ROC)曲线,以患者小剂量地塞米松抑制试验(LDDST)和大剂量地塞米松抑制试验(HDDST)抑制后24 h尿游离皮质醇(24 h UFC)与抑制前(基线)24 h UFC比值(post UFC/pre UFC)为检测变量,以是否为PPNAD为状态变量,寻找鉴别诊断PPNAD的最佳切点.结果 PPNAD、PBMAH及ADA三组患者基线及LDDST、HDDST后血皮质醇(F)水平均明显升高,组间差异无统计学意义(P>0.05);三组患者促肾上腺皮质激素(ACTH)水平均受抑制,且PBMAH组基线及HDDST后ACTH水平最高,ADA组ACTH水平最低(P<0.05);三组患者基线24 h UFC均明显升高,差异无统计学意义(P>0.05).与PBMAH、ADA组比较,PPNAD组患者LDDST post UFC/pre UFC[1.88(1.39,2.59)]明显高于PBMAH组[1.13(0.82,1.37),P=0.001]及ADA组[1.11(0.70,1.49),P=0.003],且HDDST抑制后的post UFC/pre UFC[2.31(1.23,3.08)]亦高于PBMAH组[1.22(0.94,1.63),P=0.004]及ADA组[1.39(1.08,1.53),P=0.008].与PBMAH、ADA组比较,PPNAD组患者LDDST中post UFC/pre UFC诊断切点为1.385,敏感度为85.7％,特异度为71.5％;HDDST中post UFC/pre UFC诊断切点为2.290,敏感度为57.1％,特异度为95.0％.结论 地塞米松抑制试验post UFC/pre UFC切点对PPNAD患者鉴别诊断具有重要临床价值;当LDDST中post UFC/pre UFC为1.385以上,HDDST中post UFC/pre UFC为2.290以上可能诊断为PPNAD.

目的 总结分析肾上腺大占位的构成特点以指导临床治疗.方法 回顾性分析2016年1月—2020年12月于解放军总医院第一医学中心内分泌科住院诊治的493例肾上腺占位直径≥4 cm患者的临床资料,包括性别、年龄、首诊原因、是否手术、术后病理诊断、影像学资料等.所有患者按内分泌功能评估结果分为功能性占位(n=264)与无功能性占位(n=229),按良恶性评估结果分为良性占位(n=348)与恶性占位(n=145),分析功能性占位、恶性占位所占比例及疾病谱分布情况.结果 (1)493例患者就诊年龄(47.7±14.3)岁,首诊原因主要为肾上腺意外瘤(289例,58.6％).(2)肾上腺大占位中功能性占位多于无功能性占位[53.6％(264/493)vs.46.4％(229/493)];功能性占位中嗜铬细胞瘤占比最高(65.5％),无功能性占位中髓样脂肪瘤占比最高(22.3％);功能性占位与无功能占位患者的年龄、性别、病变位置及瘤体直径差异无统计学意义.(3)肾上腺大占位中良性占位多于恶性占位[70.6％(348/493)vs.29.4％(145/493)],恶性占位瘤体直径大于良性占位[(73.85±29.84)mm vs.(67.12±26.69)mm,P<0.05];良性和恶性占位中嗜铬细胞瘤占比均居首位,分别为32.2％和42.1％;良性占位与恶性占位患者的年龄、性别、病变位置差异无统计学意义(P>0.05).结论 肾上腺占位直径≥4 cm的患者中嗜铬细胞瘤比例最高,主要以肾上腺意外瘤就诊;功能性占位多于无功能性占位,良性占位多于恶性占位;恶性占位直径更大.

Objective: To provide insight into the diagnosis for clinicians, the clinical characteristics, diagnosis and treatment history of 3 patients with 21-hydroxylase deficiency (21-OHD) and testicular adrenal rest tumors (TART) were analyzed. Methods: The clinical, laboratory and imaging data of 3 male patients with 21-OHD and TART, confirmed with CYP21 gene sequencing, from May 2010 to May 2021 in the First Medical Center of Chinese PLA General Hospital were analyzed retrospectively. The treatment strategy and clinical outcome were followed up. Results: All the 3 patients were first diagnosed with bilateral adrenal mass at the age of 27-42 years old. They were 145-162 cm tall. The levels of progesterone, 17-hydroxyprogesterone, and adrenocorticotropic hormone (ACTH) of the 3 patients were relatively high, and that of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) of the 3 patients were low. Testosterone level of 1 patient was significantly elevated, and that of the other 2 patients was below the lower limit of normal range. Testicular ultrasound showed heterogeneous hyperechoic masses in both testes. CT of the adrenal glands showed bilateral adrenal enlargement with mass. All 3 patients were treated with dexamethasone. After 4-96 months of follow-up, 17-hydroxyprogesterone level was kept above the median normal level. One of the patients got married and had a baby after treatment. The sizes of adrenal hyperplasia and testicular masses reduced to various degrees with the change of the testicular masses being proportional to that of adrenal hyperplasia. Conclusions: Patients with 21-OHD are prone to have TART, leading to the impaired testicular function. Early glucocorticold therapy is beneficial to the reduction of TART and restoration of testicular function.

BackgroundOverweight and obesity are well-known risk factors for type 2 diabetes mellitus (T2DM). The effect of the maximum body mass index (BMImax), which indicates the highest body weight before the diagnosis of T2DM, is not fully understood. This study aimed to explore the predictive value of BMImax in the progression of diabetes.MethodsThis prospective study recruited 2018 subjects with normal glucose tolerance in Beijing, China. The subjects were followed up for eight years, and the association between BMImax and glucose outcomes was evaluated.ResultsNinety-seven of the 2,018 participants developed diabetes by the end of the study. Compared to individuals with normal glucose tolerance, those who developed diabetes were characterized by higher levels of fasting plasma glucose (FPG), 2 h postload glucose (PBG), glycosylated hemoglobin (HbA1c), systolic blood pressure (SBP), and low-density lipoprotein cholesterol (LDL-c), a higher prevalence of a familial history of diabetes and a lower level of high‐density lipoprotein cholesterol (HDL-c). Multivariate regression analysis of sex-stratified groups suggested that FPG, HbA1c, SBP and familial history of diabetes were independent risk factors for diabetes, but that BMImax was a unique indicator for female patients.ConclusionsBMImax might be an independent predictor of T2DM in females, but it does not seem to be associated with the risk of diabetes in males. BMImax could be regarded as an indicator in the prevention and management of diabetes.

背景 Gitelman综合征(Gitelman?syndrome,GS)是最常见的遗传性肾小管病变,临床表现多不典型,存在着很大的漏诊、误诊风险.我国对GS认识较晚,遗传性研究领域相对薄弱,缺乏大样本GS患者的基因型与表型相关性研究.目的 探讨GS患者的临床和遗传特征,以提高对该病的认识和诊治.方法 收集2007年7月-?2020年9月于解放军总医院第一医学中心内分泌科就诊的71例临床诊断为GS患者的临床资料并进行基因分析,并进一步探讨基因型与表型的相关性.结果 71例GS患者中,男性44例,女性27例.临床表现以神经肌肉系统受累相关表现为主,女性患者较男性患者更易出现肌肉痉挛或抽搐(40.7％?vs?18.2％,P=0.037)和肢体麻木(37.0％vs?15.9％,P=0.043).所有患者入院时均合并低钾血症,16例(22.5％)无低镁血症,6例(8.4％)无典型低尿钙.71例GS患者中3例未检测到SLC12A3基因突变,1例疑似多个基因缺失,其余67例患者检测出70种不同SLC12A3基因突变类型,其中25种为新发突变.p.D486N和p.T60M为最常见的突变类型,分别占28％(20/71)和11％(8/71).纯合突变患者的血钾水平显著低于复合杂合突变患者(P=0.015).结论 GS患者基因型与表型异质性明显,部分患者血镁和尿钙水平正常,p.D486N和p.T60M为本研究中的热点突变.除SLC12A3基因外,还有其他遗传因素在GS病理过程中发挥作用.纯合突变患者的低钾血症相对较重.

Background Patients with normoalbuminuria and a reduced estimated glomerular filtration rate (eGFR) account for a considerable proportion of type 2 diabetes patients. The aim of this research was to investigate the epidemiological and clinical characteristics of normoalbuminuric kidney disease in a Chinese population. Methods We included 8131 diabetic patients from a multicenter prospective study in China. Based on eGFR and urinary albumin-to-creatinine ratio (UACR), participants were stratified into four groups-normal albuminuria, albuminuria, normoalbuminuria with eGFR < 60 mL/min/1.73 m(2), and albuminuria with eGFR < 60 mL/min/1.73 m(2). Clinical parameters and characteristics of patients with normoalbuminuria and eGFR < 60 mL/min/1.73 m(2) were retrospectively analyzed. Results A total of 1060 out of 8131 individuals with diabetes had decreased eGFR (<60 mL/min/1.73 m(2)). Normoalbuminuria accounted for 63.3% of participants with eGFR < 60 mL/min/1.73 m(2), and microalbuminuria and macroalbuminuria accounted for 30.1% and 6.3%, respectively. Patients with normoalbuminuria and reduced eGFR were more frequently male, older, and had higher levels of triglycerides than patients with normal albuminuria and eGFR. We also detected a correlation between lower extremity arterial disease, newly diagnosed diabetes, and normoalbuminuria-reduced eGFR. Compared with participants with both albuminuria and eGFR decline, those with normoalbuminuria had better metabolic indicators, including systolic blood pressure and glycosylated hemoglobin, and shorter diabetes duration. Even in the normal range, UACR has a significant correlation with the risk of eGFR insufficiency. Conclusions Normoalbuminuric renal insufficiency, characterized by male sex, older age, a higher level of triglyceride levels, and a higher risk of lower extremity arterial disease, accounted for a dominant proportion of diabetic patients with eGFR decline.

Background Cathepsin K (CTSK) is a protease that degrades type I collagen and extracellular matrix, thereby contributing to bone resorption and tumor invasion. Some pituitary adenomas (PAs) could invade the sphenoid sinus (SS) and cavernous sinus (CS). Purpose This retrospective cohort study aimed to study the expression of tumoral biomarkers (CTSK, MMP9, MMP2, TIMP2, and PTTG1) and evaluate their clinical significance in non-functioning pituitary adenomas (NFPAs) with different invasion patterns. Methods We assessed the expression levels of candidate invasion-specific protein biomarkers CTSK, MMP9, MMP2, TIMP2, and PTTG1 by immunohistochemical staining in paraffin-embedded NFPA tumor tissues. Variations in staining intensity were analyzed in cases with SS and CS invasion and non-invasive NFPAs. Results We found that the levels of CTSK were higher in PA cases with SS invasion than that in PA cases with CS invasion (95.57 ± 31.57 vs. 65.29 ± 29.64, P < 0.001), and the expression of MMP9 and MMP2 was higher in CS-invasive cases than that in SS-invasive cases (145.02 ± 49.25 vs. 111.80 ± 51.37, P = 0.002, and 138.67 ± 52.06 vs. 108.30 ± 41.70, P = 0.002). Multiple Cox regression demonstrated that higher CTSK expression (P=0.011), subtotal resection (P<0.001), invasion (P=0.037), and larger tumor diameter (P=0.001) were independent risk factors for recurrence. A positive correlation was observed between CTSK expression and tumor size (r=0.671, p<0.001). There was no significant difference in TIMP2 and PTTG1 levels between CS-and SS-invasive cases (97.42± 39.80 vs. 102.10± 43.22, P = 0.58 and 13.89 ± 4.59 vs. 12.56 ± 3.96, P = 0.14). Conclusion Our data indicated that CTSK has the potential as a marker for SS invasion of PAs, whereas MMP9 and MMP2 may be markers for CS invasion. And CTSK may play an important role in tumor relapse.

目的 分析嗜铬细胞瘤/副神经节瘤(PPGL)患者中血浆游离甲氧基肾上腺素类物质(MNs)正常者的临床特点,为该类患者的诊疗提出建议.方法 回顾性分析2019年1月-2021年4月在解放军总医院第一医学中心就诊的99例PPGL患者,其中98例经病理证实为PPGL,1例为临床诊断希佩尔-林道综合征(VHL综合征).所有患者均检测血浆游离MNs,按照MNs水平分为MNs正常的PPGL患者(MNs正常组,n=10)与MNs升高的PPGL患者(MNs升高组,n=89),比较两组患者临床表现、影像学特点、术前准备、术中血压波动等方面的差异.结果 MNs正常组患者典型三联征发生率与MNs升高组比较差异无统计学意义(P>0.05),但恶心、呕吐的发生率稍高于MNs升高组(40.0％vs.13.5％,P=0.031).MNs正常组腹膜后副神经节瘤比例明显高于MNs升高组(60.0％vs.20.2％,P=0.027),具有PPGL典型影像学表现(70.0％vs.92.1％,P=0.028)及肿瘤坏死(40.0％vs.71.9％,P=0.039)的比例明显低于MNs升高组.10例血MNs正常的PPGL患者中,2例尿甲氧基肾上腺素(MN)或甲氧基酪胺(3-MT)轻度升高,8例肿瘤最大直径≥3 cm,7例CT或MRI提示肿瘤具有较为典型的PPGL影像学特征,6例患者功能影像学检查阳性.结论 血MNs正常不能作为排除PPGL的充分依据;对于可疑PPGL的患者,如血MNs正常,建议加测尿MNs及3-MT等指标.功能影像学检查对PPGL的诊断具有重要价值.