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.Hypomagnesemia with secondary hypocalcemia: A case report and review of literature
Zhizhen LI ; Yanling LIU ; Gaofei REN ; Guijun QIN
Chinese Journal of Endocrinology and Metabolism 2024;40(11):978-980
This article presents a case of primary hypomagnesemia with secondary hypocalcemia in an adult. The patient′s medical history and treatment were reviewed. Following oral magnesium supplementation, the patient′s clinical symptoms improved and the blood magnesium level increased. This report aims to raise clinical awareness of primary hypomagnesia with secondary hypocalcemia.
3.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.
4.Clinical characterization and genetic analysis of 5 Chinese families with glucokinase gene mutations
Yuansi CHEN ; Mingwei SHAO ; Gaofei REN ; Duo CHEN ; Feng GUO ; Yanxia LIU ; Zhizhen LI ; Liangge SUN ; Guijun QIN
Chinese Journal of Endocrinology and Metabolism 2022;38(8):645-650
Objective:To summarize the clinical manifestations and molecular genetic characteristics of 5 families with maturity-onset diabetes mellitus of the young 2 (MODY2) caused by glucokinase (GCK) gene mutations.Methods:Clinical data and biochemical results of probands were collected. Peripheral blood samples of probands and first-degree family members were collected and whole exome gene was detected using second-generation sequencing. After comparing against the database, the suspected pathogenic sites were selected for Sanger sequencing verification.Results:All the 5 probands presented with mild fasting hyperglycemia, HbA 1C<7.5%, and no symptoms of thirst, polydipsia or polyuria. There were 6 mutants in 5 families, including M1: c.555delT (P.leu186CysFS Ter19) and M3: c. 263T>A (p.Met88Lys) which haven′t been reported before. During the follow-up, all probands received life-style intervention, except 2 pregnant women who should consider insulin treatment if necessary according to fetal genotypes. Conclusion:Among patients who meet the diagnostic criteria for MODY, MODY2 screening should be performed for children or pregnant women with mild hyperglycemia and family history. GCK gene detection is the gold standard for diagnosis, and accurate diagnosis will be conducive to the selection of appropriate treatment.
5.Clinical characteristics of congenital nephrogenic diabetes insipidus
Yinghui ZHANG ; Zhizhen LI ; Shan LI ; Dongdong MENG ; Guijun QIN
Chinese Journal of Internal Medicine 2021;60(7):665-668
The purpose of this study was to improve the ability to visualize and diagnose congenital nephrogenic diabetes insipidus (CNDI). The clinical manifestations, laboratory examination findings, imaging features and treatment outcomes of 22 patients with CNDI admitted to the First Affiliated Hospital of Zhengzhou University from May 2013 to May 2020 were retrospectively analyzed. Among the 22 patients with CNDI, 86.4% (19 cases) were male. The age of the 22 patients ranged from 2 months to 47 years old, in which 20 cases were younger than 30 years old and 2 cases were older than 30 years old. The clinical manifestations were polydipsia and polyuria, accompanied with various degrees of fever, defects in growth and development, and increased serum creatinine in some patients. Fifteen patients (68.2%) had different degrees of bilateral kidney and ureteral hydronephrosis, and increased residual urine volume in the bladder. Pituitary magnetic resonance imaging (MRI) enhanced scan showed that the high signal intensity in the posterior pituitary lobe was not detectable in 5 cases (22.7%), and blurred in 6 cases (27.3%). Seven tested patients were all found AVPR2 gene mutation. For patients with suspected CNDI, water-inhibiting vasopressin test and genetic testing should be performed in time so as to confirm diagnosis and treat as early as possible.
6.25?hydroxyvitamin D, sex hormone levels and cardiovascular risk among men in northeast area of Henan province
Jiao WANG ; Xiaojun MA ; Yanling LIU ; Yanyan ZHAO ; Zhizhen LI ; Feng GUO ; Xiaokun MA ; Lina WU ; Weiping TENG ; Guijun QIN
Chinese Journal of Internal Medicine 2019;58(9):673-679
To examine associations of 25?hydroxyvitamin D [25(OH)D] concentrations with sex hormone levels and cardiovascular risk factors. Methods A total of 697 male subjects were obtained from the thyroid disorders, lodine status and diabetes: a national epidemiological survey?2014 (TIDE) research??Henan sub?center survey through multistage stratified cluster random sampling from December 2015 to March 2016. The associations between 25(OH)D and sex hormones or cardiovascular risk factors were analyzed by linear regression analyses. Results The age of the subjects was (46.6 ± 15.9) years (19?85 years). Proportions of vitamin D deficient, vitamin D intermediate and vitamin D optimal were 9.3%, 13.1% and 77.6%, respectively. More subjects with vitamin D deficient were in urban area than in rural area (13.3% vs. 5.7%, P=0.001). After fully adjusting for age, residence area, economic status, education, body mass index, waist circumference, homeostasis model assessment of insulin resistance (HOMA?IR), hypertension, diabetes, triglyceride, high?density lipoproteincholesterol, total cholesterol, low?density lipoprotein cholesterol and uric acid, linear regression analyses showed that every 25 nmol/L increase in 25(OH)D levels increased lg FT(FT=free testosterone) by 0.013ng/L (β=0.013, P=0.036), lg DHT (DHT=dihydrotestosterone) by 0.030 ng/L (β=0.030, P=0.019), and lg AD (AD=androstenedione) by 0.019 μg/L (β=0.019, P=0.008). After fully adjusting for age, residence area, economic status and education, every 25 nmol/L increase in 25(OH)D levels lowered glycosylated hemoglobin A1c (HbA1c) by 0.051% (β=-0.051, P=0.027). Conclusions Higher 25(OH)D concentrations in men were associated with higher FT, DHT, AD and lower HbA1c levels.
7. 25-hydroxyvitamin D, sex hormone levels and cardiovascular risk among men in northeast area of Henan province
Jiao WANG ; Xiaojun MA ; Yanling LIU ; Yanyan ZHAO ; Zhizhen LI ; Feng GUO ; Xiaokun MA ; Lina WU ; Weiping TENG ; Guijun QIN
Chinese Journal of Internal Medicine 2019;58(9):673-679
Objective:
To examine associations of 25-hydroxyvitamin D [25(OH)D] concentrations with sex hormone levels and cardiovascular risk factors.
Methods:
A total of 697 male subjects were obtained from the thyroid disorders, lodine status and diabetes: a national epidemiological survey-2014 (TIDE) research--Henan sub-center survey through multistage stratified cluster random sampling from December 2015 to March 2016. The associations between 25(OH)D and sex hormones or cardiovascular risk factors were analyzed by linear regression analyses.
Results:
The age of the subjects was (46.6±15.9) years (19-85 years). Proportions of vitamin D deficient, vitamin D intermediate and vitamin D optimal were 9.3%, 13.1% and 77.6%, respectively. More subjects with vitamin D deficient were in urban area than in rural area (13.3% vs. 5.7%,
8.Antihyperuricemic effect of mangiferin aglycon derivative J99745 by inhibiting xanthine oxidase activity and urate transporter 1 expression in mice.
Zhizhen QIN ; Shoubao WANG ; Yihuang LIN ; Ying ZHAO ; Shengqian YANG ; Junke SONG ; Tao XIE ; Jinlong TIAN ; Song WU ; Guanhua DU
Acta Pharmaceutica Sinica B 2018;8(2):306-315
A mangiferin aglycon derivative J99745 has been identified as a potent xanthine oxidase (XOD) inhibitor by previous study. This study aimed to evaluate the hypouricemic effects of J99745 in experimental hyperuricemia mice, and explore the underlying mechanisms. Mice were orally administered 600 mg/kg xanthine once daily for 7 days and intraperitoneally injected 250 mg/kg oxonic acid on the 7th day to induce hyperuricemia. Meanwhile, J99745 (3, 10, and 30 mg/kg), allopurinol (20 mg/kg) or benzbromarone (20 mg/kg) were orally administered to mice for 7 days. On the 7th day, uric acid and creatinine in serum and urine, blood urea nitrogen (BUN), malondialdehyde (MDA) content and XOD activities in serum and liver were determined. Morphological changes in kidney were observed using hematoxylin and eosin (H&E) staining. Hepatic XOD, renal urate transporter 1 (URAT1), glucose transporter type 9 (GLUT9), organic anion transporter 1 (OAT1) and ATP-binding cassette transporter G2 (ABCG2) were detected by Western blot and real time polymerase chain reaction (PCR). The results showed that J99745 at doses of 10 and 30 mg/kg significantly reduced serum urate, and enhanced fractional excretion of uric acid (FEUA). H&E staining confirmed that J99745 provided greater nephroprotective effects than allopurinol and benzbromarone. Moreover, serum and hepatic XOD activities and renal URAT1 expression declined in J99745-treated hyperuricemia mice. In consistence with the ability to inhibit XOD, J99745 lowered serum MDA content in hyperuricemia mice. Our results suggest that J99745 exerts urate-lowering effect by inhibiting XOD activity and URAT1 expression, thus representing a promising candidate as an anti-hyperuricemia agent.
9.Research progress of genetic susceptibility genes associated with intervertebral disc degeneration
Jibin QIN ; Jiefu SONG ; Zhizhen JING ; Qingyuan LIANG
Chinese Journal of Orthopaedics 2016;36(18):1208-1212
The process of intervertebral disc degeneration,which could result in intervertebral disc structural and functional change,is a chronic one with multiple factors.The pathophysiologic process is still not completely find out.More and more research reports manifest that certain gene polymorphism also lead to increased risk of intervertebral disc degeneration except environmental factors.Discussions about related genetic factors and their pathophysiological role in the process of degeneration could have a further understanding to disease development.Elucidating genetic components which are associated with degeneration could not only provide insights into the mechanism of the process,but also have clinical significance for early diagnosis and prevention.In order to have a thorough understanding of functional role played by different genes,this paper summarize polymorphism and disease correlation by selecting 15 genes after reviewed the related literature published in recent years.Genetic polymorphisms in 15 genes have been analyzed in association with intervertebral disc degeneration,including aggrecan,collagen Types Ⅰ,Ⅸ and Ⅺ,fibronectin,HAPLN 1,CILP,MMP-1,2 and 3,PARK2,IL-1,6 and VDR.Each genetic polymorphism codes for a protein which has a functional role in the pathogenesis of disease.Among the 15 genes analyzed,polymorphisms in aggrecan,Type Ⅸ collagen,MMP3,IL1,IL6 and VDR show the most promise as functional variants.Genetic studies are necessary for understanding the mechanism of the degeneration.Relevant genetic information could be used as a predictive model for determining individuals' risk for intervertebral disc degeneration eventually.
10.Predictive value of liver enzymes and alcohol consumption for risk of type 2 diabetes.
Xiaokun MA ; Qingzhu WANG ; Guijun QIN ; Yanyan ZHAO ; Yinghui ZHANG ; Xiaojun MA ; Zhizhen LI ; Zhimin WANG ; Gaofei REN ; Yufang BI ; Weiqing WANG ; Guang NING
Chinese Journal of Hepatology 2015;23(1):55-58
OBJECTIVETo compare the predictive value of liver enzymes and alcohol consumption for determining risk of type 2 diabetes (T2DM).
METHODSA cross-sectional study was conducted in Zhengzhou with a total of 2, 693 men.Participants' height, weight, and histories of smoking and drinking were recorded. Levels of alanine aminotransferase (ALT), aspartate aminotransferase (AST), gamma-glutamyl transferase (GGT) and blood glucose, as well as related metabolic indexes were detected.
RESULTSModerate daily alcohol consumption (more than 35 g ethanol/week and less than 140 g ethanol/week) decreased the risk of type 2 diabetes (OR =0.376, 95% CI:0.306 -0.463, P less than 0.05) but increased risk for higher levels of GGT and ALT (OR GGT =3.012, 95% CI:2.357-3.849, Pless than 0.01; ORALT =1.473, 95% CI:1.043-2.081, Pless than 0.05). In joint analyses of alcohol consumption and liver enzymes, the group of nondrinkers/light drinkers (less than or equal to 35 g ethanol/week) in the fourth quartile of GGT levels had the highest risk for type 2 diabetes (OR =12.219, 95% CI:6.217-24.016, P less than 0.01). The relationship of ALT and daily alcohol consumption with the risk of type 2 diabetes was almost the same as that of GGT (nondrinkers/light drinkers in the fourth quartile of ALT levels (OR =5.357, 95% CI:3.070-9.350, P less than 0.0 1).
CONCLUSIONGGT, ALT and daily alcohol consumption were independently associated with risk of type 2 diabetes. Nondrinkers/light drinkers with the highest levels ofGGT orALT were at high risk of type 2 diabetes.
Alanine Transaminase ; Alcohol Drinking ; Aspartate Aminotransferases ; Blood Glucose ; Cross-Sectional Studies ; Diabetes Mellitus, Type 2 ; Humans ; Liver ; Male ; Risk Factors ; Smoking ; gamma-Glutamyltransferase

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