1.Syndrome of inappropriate secretion of thyrotropin: Differential diagnosis
Shasha WANG ; Zhizhen LI ; Yanyan ZHAO ; Huijuan ZHANG ; Xialian LI ; Guijun QIN ; Lili ZHENG ; Yanxia LIU ; Mengyang ZHANG ; Feng GUO
Chinese Journal of Endocrinology and Metabolism 2024;40(3):212-218
		                        		
		                        			
		                        			Objective:Through comprehensive analysis of symptoms and signs, biochemistry, imaging, and dynamic tests, to explore the diagnosis and differential diagnosis of thyrotropin-secreting pituitary adenoma(TSH adenoma) and syndrome of resistance to thyroid hormone(RTH).Methods:A retrospective analysis was conducted on clinical data from 14 patients who visited the First Affiliated Hospital of Zhengzhou University from July 2016 to September 2022, exhibiting elevated levels of free thyroxine(FT4) and free triiodothyronine(FT3) in the presence of increased TSH.Results:There were 7 cases of TSH adenoma and 7 cases of RTH, with the average age of diagnosis at 40.0 years and 26.6 years, respectively. Thirteen patients showed thyrotoxicosis or occasional palpitation, some with pituitary occupancy manifestations or abnormal growth and development; One patient presented with neck thickening. Sex hormone binding globulin was elevated in 3 cases of TSH adenoma. Pituitary magnetic resonance imaging showed that all 7 cases of TSH adenoma were macroadenomas and 1 case of RTH was microadenoma. The octreotide suppression test in 13 patients was inhibited, but there was a significant difference in the inhibition rate of 24 h/2 h TSH inhibition rate of TSH adenoma and RTH, ranging from 46.6% to 83.9% and 4.6% to 28.8% respectively. Six cases of RTH had thyroid hormone receptor β mutation.Conclusion:Syndrome of inappropriate secretion of thyrotropin is a rare condition, mainly including TSH adenoma and RTH. The diagnosis and differentiation of the two conditions require comprehensive assessment incorporating family history, symptoms and signs, laboratory tests, dynamic test, and genetic test. Among these, the 24 h/2 h TSH inhibition rate of octreotide suppression test can effectively distinguish TSH adenoma from RTH.
		                        		
		                        		
		                        		
		                        	
2.Using Liquid Chromatography-Tandem Mass Spectrometry in Detecting Plasma Lyso-GL3 Levels in Patients with Fabry Disease and the Association Analysis of Phenotype-Genotype of the Disease
Yan OUYANG ; Bing CHEN ; Xiaoxia PAN ; Hong REN ; Jingyuan XIE ; Chaohui WANG ; Xiao LI ; Weiming WANG ; Xialian YU ; Li YANG ; Nan CHEN
JOURNAL OF RARE DISEASES 2024;3(1):42-49
		                        		
		                        			
		                        			 Using the liquid chromatography-tandem mass spectrometry (LC-MS/MS) to determine the plasma level of Lyso-GL3 in patients with Fabry disease and to analyze the clinical application of the method. Thirty-nine patients with a genetic diagnosis of Fabry disease were included, and plasma levels of Lyso-GL3 were measured by LC-MS/MS analysis, and detailed clinical information of the patients was obtained including: α-galactosidase A activity, genetic variants, quantification of urine protein, mean arterial pressure, and estimation of glomerular filtration rate, and the differences in the levels of Lyso-GL3 in different clinical phenotypes and genotypes were statistically analyzed, as well as the association with clinical indicators. Lyso-GL3 showed good linearity within 0.7856-400 ng/mL( The using of LC-MS/MS to quantify plasma Lyso-GL showed significant differences in Lyso-GL3 concentrations between classical and atypical phenotypes, suggesting that plasma Lyso-GL3 may help with clinical phenotypes. However, Lyso-GL3 levels is found to be overlapped between genotypes. No significant linear correlation was found between Lyso-GL3 and renal clinical indicators, suggesting the urgent need in finding a more accurate tool to assess renal involvement and prognosis in patients with Fabry disease.
		                        		
		                        	
3.Clinical characteristics of pregnancy and lactation-associated osteoporosis and literature review
Lijun XU ; Lixia ZHANG ; Zhifang WANG ; Chong LI ; Haohao ZHANG ; Huijuan ZHANG ; Xialian LI ; Liangge SUN ; Lili ZHENG
Chinese Journal of Endocrinology and Metabolism 2022;38(10):900-905
		                        		
		                        			
		                        			Objective:To analyze nine cases of pregnancy and lactation-associated osteoporosis(PLO) along with a literature review to improve clinicians′ knowledge of the disease.Methods:We collected medical history, laboratory examination, bone mineral density(BMD) scan, treatment and follow-up data of 9 inpatients with PLO in the Endocrinology Department of the First Affiliated Hospital of Zhengzhou University from January 2014 to June 2021.Results:The median age of onset of 9 patients with PLO was 30 years(22-37 years). All 9 patients presented low back pain, and the median time of low back pain after childbirth was 2.5 months(0.5-7 months). 89% of the patients presented vertebral compression fractures, and the mean number of vertebral fractures was 4.6. Eight patients with PLO showed osteoporosis by dual X-ray absorpiometry(DXA) scan, and one patient showed bone loss by quantitative CT scan. Osteoporosis predominated in the trabecular bone. After the diagnosis, nine patients with PLO stopped breastfeeding and were given calcium and vitamin D preparations. Seven patients were given bisphosphonates and one patient was treated with teriparatide followed by denosumab. The back pain of all patients was relieved, with the median of relief time being 3 months(7 d-6 m). After treatment initiation, BMD was increased in eight patients, especially obvious in the lumbar spine. No new clinical fractures occurred during the follow-up.Conclusions:For women with low back pain and shortened height in late pregnancy or breastfeeding, the possibility of PLO should be considered. Prompt diagnosis and early medical interventions are of utmost importance to reduce the risk of subsequent fractures and improve the prognosis.
		                        		
		                        		
		                        		
		                        	
4.Approach to the patient with pituitary metastases initially manifested as central diabetes insipidus
Feng GUO ; Shasha WANG ; Guijun QIN ; Zhizhen LI ; Yanyan ZHAO ; Xialian LI ; Lina WU ; Jiao WANG ; Ying ZHANG ; Gaofei REN
Chinese Journal of Endocrinology and Metabolism 2022;38(4):330-334
		                        		
		                        			
		                        			The data of 10 patients with pituitary metastases were retrospectively analyzed, including tumor origin, clinical features, imaging characteristics, diagnosis and differential diagnosis, treatment and prognosis. The results showed that the average age of 10 patients at the time of consultation was 62.0 years. Nine metastases were originated from lung cancer and one from breast cancer. All patients started with central diabetes insipidus, and some of them accompanied with hypopituitarism, as well as occupancy manifestations such as headache, blurred vision, etc. MRI showed abnormalities in the pituitary stalk and posterior pituitary, four of which showed characteristic " dumbbell-shaped" changes. Three patients with epidermal growth factor receptor(EGFR)-mutated lung adenocarcinoma revealed improvement in both primary lesion and pituitary metastases after targeted therapy.
		                        		
		                        		
		                        		
		                        	
5.Differential diagnosis of nonclassical 21-hydroxylase deficiency and polycystic ovary syndrome
Shengnan WANG ; Yanjie XIA ; Lijun XU ; Qin YU ; Xialian LI ; Liangge SUN ; Guijun QIN ; Huijuan ZHANG
Chinese Journal of Endocrinology and Metabolism 2020;36(4):288-293
		                        		
		                        			
		                        			Objective:To explore the differential diagnosis methods between nonclassical 21-hydroxylase deficiency(NC21-OHD) and polycystic ovary syndrome(PCOS).Methods:The clinical data of 31 women with NC21-OHD were compared with those of 29 women with PCOS.Results:Women with NC21-OHD showed a higher prevalence of adrenal hyperplasia and lower likelihood of polycystic ovary(PCO) than those with PCOS( P<0.05), with lower height( P<0.05). The levels of adrenocorticotropic hormone (ACTH), 17-hydroxyprogesterone(17-OHP), androstenedione(AD), total testosterone(TT), and progesterone were higher in women with NC21-OHD compared with those with PCOS( P<0.05). Women with PCOS had higher levels of luteinizing hormone(LH) and higher ratio of LH to follicle stimulating hormone(FSH) than those with NC21-OHD( P<0.05). The best two identification indexes for the two diseases were 17-OHP and progesterone, with the optimal cut-off points 3.34 ng/ml(sensitivity 89.7%, specificity 93.1%) and 0.64 ng/ml(sensitivity 90.0%, specificity 75.9%), respectively. During the 1-day mid-dose dexamethasone suppression test(DST), women with NC21-OHD had higher inhibition rates of 17-OHP, progesterone, AD, and TT( P<0.01) than those with PCOS. Their optimal cut-off values of suppression rates were 73.5%(sensitivity 95.2%, specificity 100.0%), 55.5%(sensitivity 100%, specificity 88.9%), 61.4%(sensitivity 84.2%, specificity 100.0%), 68.3%(sensitivity 65.0%, specificity 100.0%), respectively. Conclusion:The clinical manifestations of women with NC21-OHD are similar to those with PCOS. 17-OHP is the best differential indicator and the 1-day mid-dose DST plays an important role in the identification of the two diseases. Genetic analysis is the gold standard for distinguishing the two diseases.
		                        		
		                        		
		                        		
		                        	
7.Progress in the study of familial glucocorticoid deficiency
Aiai LUO ; Zhifang WANG ; Xialian LI
Chinese Journal of Endocrinology and Metabolism 2019;35(10):888-892
		                        		
		                        			
		                        			Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by a single cortisol deficiency and normal aldosterone and renin levels, reported by Shepard et al. in 1959 for the first time. The age of FGD onset may be early or later, from neonatal to adult. The clinical manifestations vary due to the different age at onset. The clinical identification was difficult and would be prone to misdiagnosis because the disease may have many similarities with primary adrenal insufficiency (PAI) caused by other reasons.
		                        		
		                        		
		                        		
		                        	
8.Characteristics of heart structure and function in patients with type 2 diabetes mellitus
Xiaoyu WANG ; Yanxia LIU ; Xialian LI
Chinese Journal of Diabetes 2018;26(5):385-389
		                        		
		                        			
		                        			Objective To investigate the characteristics of heart structure and function in patients with type 2 diabetes mellitus (T2DM ) and analyze the influencing factors . Methods A total of 486 patients with T2DM and 140 healthy controls were enrolled in this study .The results of echocardiography were compared between the two groups .The influencing factors of heart structure and function in patients with T2DM were analyzed . The T2DM patients were then divided into four subgroups according to diabetes duration .The heart structure and function were compared among the subgroups . Results (1) Interventricular septal thickness (IVSTd) ,left ventricular posterior wall thickness (LPWTd) ,left atrial dimension(LAD) ,and pulmonary arterial diameter (PA )were increased in T2DM group than in control group(P<0.05);Left ventricular diameter (LVIDd) ,right ventricular diameter (RVIDd) ,and right atrial area(RA-A ) were not significant difference between the two groups . E peak ,E/A value and ejection fraction (LVEF) decreased ,A peak increased significantly in T2DM group than in control group (P<0.05) .(2) There was no significant change in heart structure among subgroups with different diabetes duration .E/A value was lower in 5~10 years subgroup than ≤5 years subgroup .The E/A value and LVEF were lower in≥15 years subgroup than ≤5 years group .(3) IVSTd and LPWTd were significantly correlated with sex ,body mass index (BMI) ,diabetes duration ,C-reactive protein (C-RP) ,intima-media thickness(CIM T ) ,high density lipoprotein (HDL-C ) ,and LVEF .LAD was significantly correlated with age ,BMI ,diabetes duration ,NT-proBNP ,HOMA-IR (C-P) ,HDL-C and LVEF .There was no correlation between LAD and FPG ,HbA1 c ,TG ,and SUA .The diabetes duration was a risk factor for thickening of LPWTd .BMI was a risk factor for LAD .A peak ,E peak and E/A value in patients with T2DM were significantly correlated with age and diabetes duration .LVEF was correlated with NT-proBNP .Age is a risk factor for A peak ,E peak and E/A value . Conclusion The changes of heart structure in T2DM patients mainly manifested in the left ventricular hypertrophy ,the enlargement of the left atrium and pulmonary artery .There is no significant heart structure change with the progression of diabetes .The changes of heart function in T2DM patients mainly manifested the contraction and diastolic dysfunction , and with the progression of diabetes ,the worsening of diastolic function was more significant .
		                        		
		                        		
		                        		
		                        	
9.Study on the antibiotic resistance of Staphylococcus aureus isolated from hospitalized children with respiratory tract infections
Hailing ZENG ; Wenting LI ; Dongmei WANG ; Xialian GONG ; Ping TANG ; Xuzhuang SHEN ; Denian WEN ; Kaihu YAO
Chinese Journal of Applied Clinical Pediatrics 2017;32(16):1235-1238
		                        		
		                        			
		                        			Objective To investigate the antimicrobial resistance and genotype distribution of staphylococcal cassette chromosome mec (SCCmec) of staphylococcus aureus (S.aureus) isolated from children hospitalized at Pediatric People's Hospital of Zhongjiang County.Methods Seventy-seven strains of S.aureus were collected by nasopharyngeal swabs at the Pediatric Department of People's Hospital of Zhongjiang County from January to December 2015.Methicillin-resistant staphylococcus aureus (MRSA) and methicillin-susceptible staphylococcus aureus (MSSA) were identified by cefoxitin disc diffusion and detection of mecA method.The minimum inhibitory concentrations (MIC) of antibiotics were determined by E-test method.SCCmec typing on MRSA strains was performed by using multiplex PCR.Results MRSA accounted for 54.5% (42 strains) strains of 77 strains.All MRSA strains were resistant to Penicillin,and the rates of antibiotic resistance to Cefuroxime,Ceftriaxone,Erythromycin were 78.6%,95.2% and 97.6%,respectively.The rates of antibiotic resistance of 35 MSSA to Penicillin and Erythromycin were 97.1% and 62.9%,and they were also sensitive to other antibiotics.In 42 strains of MRSA,SCCmec type Ⅳa was the predominant type (27 strains,64.3 %),which was followed by type Ⅳ g and Ⅴ (each 5 strains,11.9%),type Ⅳ c and Ⅳh (each 1strain,2.4%).Non-susceptibility rate of SCCmec Ⅳ to cefuroxime was significantly higher than that of other SCCmec types (P < 0.05).Conclusions All strains from children hospitalized in People's Hospital of Zhongjiang County are often resistant to Penicillin and Erythromycin.The proportion of MRSA isolated from hospitalized children was high.SCCmec type Ⅳa is the main genotype of MRSA.
		                        		
		                        		
		                        		
		                        	
            
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