Approach to the patient with pituitary metastases initially manifested as central diabetes insipidus / 中华内分泌代谢杂志

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.

Clinical characterization and genetic analysis of 5 Chinese families with glucokinase gene mutations / 中华内分泌代谢杂志

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.

McCune-Albright syndrome associated with growth hormone-prolactin pituitary adenoma in 4 Chinese patients with literature review / 中华内分泌代谢杂志

Objective:To investigate the clinical characteristics of four McCune-Albright syndrome (MAS) patients associated with growth hormone(GH)-prolactin(PRL) pituitary adenoma, and explore more effective clinical treatment and management methods.Methods:The clinical data of four patients with MAS and GH-PRL pituitary adenoma diagnosed by Peking Union Medical College Hospital were retrospectively analyzed, including clinical manifestations, biochemical parameters, radiographic characteristics, as well as treatment and prognosis. Literature review was also conducted to analyze the efficacy of surgical operations and drug intervention.Results:Clinical characteristics: 3 females and 1 male, all of whom had onset before the age of 7 years. The types of fibrous dysplasia of bone were all polyosseous and involved craniofacial region. There were obvious gigantism/acromegaly manifestations in all cases, 3 cases had evident visual impairment and 1 case with optic chiasm compression. There was no spontaneous or triggered lactation in all 4 patients. Laboratory examination: GH and insulin-like growth factor-Ⅰ(IGF-Ⅰ) levels were significantly increased in 4 patients, GH levels were not inhibited by oral glucose tolerance test (OGTT), PRL levels were over 100 ng/ml, ALP levels were significantly increased in 4 patients, while serum calcium and phosphorus levels were remained normal. Imaging features: All pituitary adenomas in 4 patients were macroadenomas, with unilateral cavernous sinus enclosure in cases 2 and 3, and recurrence of macroadenoma with bilateral cavernous sinus enclosure in case 4 after the first operation. Four cases of skull CT showed multiple FD in craniofacial bone and skull base. Treatment and outcome: All 4 patients underwent pituitary adenoma resection and bisphosphonate therapy, and somatostatin analogues, dopamine receptor agonists and other treatments were selected according to the situation. Two patients with early diagnosis and initial treatment achieved partial remission after treatment, while the other two patients did not.Conclusions:Patients with MAS and GH-PRL pituitary adenoma had earlier onset age and were more likely to suffer from optic nerve damage. Early diagnosis and reasonable surgical treatment may help to improve biochemical indicators (GH, IGF-Ⅰ, and PRL, etc.) rapidly, and combined drug therapy (somatostatin analogues and dopamine receptor agonists) can better maintain or close to normal biochemical indicators, and ultimately improve the prognosis of patients.

Novel splicing mutation of SDHB gene induced paraganglioma near inferior vena cava: A case report / 中华内分泌代谢杂志

Pheochromocytoma/paraganglioma(PPGL) was a kind of neuroendocrine tumor that derived from chromaffin tissue, which seems to be an important etiology of secondary hypertension. With the development of molecular detection technology, at least 17 kinds of pathogenic genes of PPGL has been discovered, which is related to 35%-40% PPGL, and about 40% malignant PPGL is associated with SDHB gene mutation. In this study, we reported a case with a novel splicing mutation of SDHB gene induced paraganglioma.

Novel splicing mutation of SDHB gene induced paraganglioma near inferior vena cava: A case report / 中华内分泌代谢杂志

Pheochromocytoma/paraganglioma(PPGL) was a kind of neuroendocrine tumor that derived from chromaffin tissue, which seems to be an important etiology of secondary hypertension. With the development of molecular detection technology, at least 17 kinds of pathogenic genes of PPGL has been discovered, which is related to 35%-40% PPGL, and about 40% malignant PPGL is associated with SDHB gene mutation. In this study, we reported a case with a novel splicing mutation of SDHB gene induced paraganglioma.

Characteristics of abdominal fat distribution in patients with primary aldosteronism / 中华内分泌代谢杂志

Objective@#To compare the abdominal fat distribution in patients with primary aldosteronism (PA) and essential hypertension (EH), and to analyze the correlation between abdominal fat area and indexes such as glycolipid metabolism and insulin resistance.@*Methods@#Forty-five PA and 55 EH patients were collected from inpatients in the First Affiliated Hospital of Zhengzhou University for suspicious secondary hypertension, from September 2016 to February 2019. All patients received quantitative computed tomography to measure the total abdominal fat area (TFA), visceral fat area (VFA), and subcutaneous fat area (SFA) when receiving adrenal CT detection. Visceral obesity was defined as VFA≥130 cm2. The percentage of visceral fat area in total abdominal fat area (V%=VFA/TFA), the ratio of visceral fat area to subcutaneous fat area (V/S=VFA/SFA) and the percentage of visceral obesity were calculated.@*Results@#TFA and VFA in EH group were higher than those in PA group matched by age, gender, and body mass index (BMI, all P<0.01), and there were no statistically significant differences in SFA, V%, V/S, and the percentage of visceral obesity between the two groups. In PA group, TFA and VFA were positively correlated with homeostasis model assessment of insulin resistance index (P<0.01), TFA was positively correlated with triglycerides (TG) and low density lipoprotein-cholesterol, while SFA was positively correlated with TG (all P<0.05).@*Conclusion@#Compared with EH patients matched by age, gender, and BMI, TFA and VFA in PA patients are lower. Abdominal fat area is associated with insulin resistance and blood lipids in PA patients, while VFA exerts a greater effect on insulin resistance than that of TFA and SFA.

Characteristics of abdominal fat distribution in patients with primary aldosteronism / 中华内分泌代谢杂志

Objective To compare the abdominal fat distribution in patients with primary aldosteronism (PA) and essential hypertension (EH), and to analyze the correlation between abdominal fat area and indexes such as glycolipid metabolism and insulin resistance. Methods Forty-five PA and 55 EH patients were collected from inpatients in the First Affiliated Hospital of Zhengzhou University for suspicious secondary hypertension, from September 2016 to February 2019. All patients accepted quantitative computed tomography to measure the total abdominal fat area ( TFA), visceral fat area ( VFA), and subcutaneous fat area ( SFA) when accepted adrenal CT detection. Visceral obesity was defined as VFA≥130 cm2. The percentage of visceral fat area in total abdominal fat area (V%=VFA/TFA), the ratio of visceral fat area to subcutaneous fat area (V/S=VFA/SFA) and the percentage of visceral obesity were calculated. Results TFA and VFA in EH group were higher than those in PA group matched by age, gender, and body mass index (BMI, all P＜0.01), and there were without statistically significant differences in SFA, V%, V/S, and the percentage of visceral obesity between the two groups. In PA group, TFA and VFA were positively correlated with homeostasis model assessment of insulin resistance index ( P＜0. 01), TFA was positively correlated with triglycerides ( TG) and low density lipoprotein-cholesterol, while SFA was positively correlated with TG (all P＜0.05). Conclusion Compared with EH patients matched by age, gender, and BMI, TFA and VFA in PA patients are lower. Abdominal fat area is associated with insulin resistance and blood lipids in PA patients, while VFA exerts a greater effect on insulin resistance than that of TFA and SFA.

Predictive value of liver enzymes and alcohol consumption for risk of type 2 diabetes / 中华肝脏病杂志

<p><b>OBJECTIVE</b>To compare the predictive value of liver enzymes and alcohol consumption for determining risk of type 2 diabetes (T2DM).</p><p><b>METHODS</b>A 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.</p><p><b>RESULTS</b>Moderate 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).</p><p><b>CONCLUSION</b>GGT, 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.</p>

The association between Graves disease with hypokalemic periodic paralysis or thymus hyperplasia / 中国综合临床

Objective To explore the relationship between Graves disease and hypokalemic periodic paralysis or thymus hyperplasia.Methods Sixty-two patients with Graves disease were enrolled in this study.Thirty-three patients without thymus hyperplasia were selected as group A and other 29 patients were group B.In addition,30 healthy volunteers served as control group.Results There were no significant difference between group A and group B in terms of sex,age,illness course,thyroid enlargement,exophthalmos,periodic paralysis and the levels of free triiodothyronine (FT3),free thyroxin (FT4),thyroid stimulating hormone (TSH) (P ＞ 0.05).The incidence rate of hypokalemic periodic paralysis in male Graves disease with thymus hyperplasia was 62％ (8/13),higher than that in female patients (6％ (1/16),x2 =10.24,P ＜ 0.05).The incidence rate of hypokalemic periodic paralysis in male Graves patients was 62％ (16/26),higher than in female Graves patients (6％ (2/36),x2 =22.96,P ＜ 0.05).There was no significant relationship between Graves disease patients combined with thymus hyperplasia and sex,age,illness course,thyroid enlargement,exophthalmos,periodic paralysis and the levels of FY3,FT4,TSH.Conclusion The incidence rate of hypokalemic periodic paralysis in male Graves disease patients combind with thymus hyperplasia is higher than in female,and therefore it should pay more attention of male Graves patients in case misdiagnosis.

Association between serum 25-hydroxyvitamin D3 concentration, parathyroid hormone, and arterial stiffness in patients with type 2 diabetes / 中华内分泌代谢杂志

Objective To evaluate the association between serum 25-hydroxyvitamin D3 [25 (OH) D3],parathyroid hormone,and arterial stiffness in patients with type 2 diabetes.Methods Serum 25 (OH) D3 and parathyroid hormone(PTH) were determined in a cross-sectional sample of 258 patients aged 30 years and over.Arterial stiffness was assessed by pulse wave velocity(PWV) obtained with a VP-1000 pulse wave unit.Fasting plasma HbA1c,lipid profile,calcium,and high sensitive-C reactive protein were determined.Results (1)The prevalence of vitamin D3 deficiency was high(79.84％) in patients with type 2 diabetes.(2) Those with lowered serum vitamin D3 levels had raised PWV [(1610.76 ± 142.70 vs 1527.95 ± 58.02) cm/s,P＜0.05].(3) Multiple stepwise regression analysis showed that 25 (OH) D3 was an impact factor of PWV risk score,which was independent of age,duration of diabetes,and systolic blood pressure(β =-0.256,P＜0.01).(4) Serum PTH was positively correlated with PWV (r =0.210,P ＜ 0.05) and systolic blood pressure (r =0.229,P ＜ 0.05),but negatively correlated with 25 (OH) D3 (r =-0.153,P ＜ 0.05).Conclusions 25 (OH) D3 deficiency is common in patients with type 2diabetes,and a low serum 25 (OH) D3 level is significantly associated with increased arterial stiffness in these patients.The association of serum PTH with arterial stiffness may result via changes in vitamin D and blood pressure.

Serum level of 25-dihydroxyvitamin D3 in patients with diabetic nephropathy / 中华内分泌代谢杂志

The serum level of 25-dihydroxyvitamin D3 was determined in patients with type 2 diabetes,diabetic nephropathy,and healthy objects..The results demonstrated that the serum 25-dihydroxyvitamin D3 level in type 2 diabetic patients with nephropathy was lower than that in the healthy objects or type 2 diabetes objects.Blood β2-M,total cholesterol,creatinine,24 h urinary albumin,and course of illness in type 2 diabetic patients with nephropathy have relationship with serum 25-dihydroxyvitamin D3.