2015 Vol. 6, No. 6

Display Method:
Original Contributions
Abstract:
  Objective  To investigate the diagnostic value of adrenal vein sampling (AVS) in adrenocorticotropic hormone (ACTH)-independent Cushing's syndrome with bilateral adrenal masses.  Methods  A retrospective analysis of 4 cases of ACTH-independent Cushing's syndrome with bilateral adrenal masses treated in Peking Union Medical College Hospital was performed. Bilateral adrenal venous blood and peripheral venous blood samples were collected under fasting state for measurement of cortisol and aldosterone concentrations. The ratio of cortisol level in adrenal venous blood to that in peripheral venous blood was calculated, as well as the cortisol-to-aldosterone ratios in bilateral adrenal veins.  Results  Based on the results of AVS, the average odds ratio of bilateral cortisol/aldosterone of the 4 cases was 8.4 (3.6-16.2). Among these patients, 3 cases were diagnosedas overt Cushing's syndrome caused by unilateral cortisol-secreting hyperfunctioning adrenal adenoma with contralateral nonfunctioning cortical adenoma; the other case was subclinical Cushing's syndrome caused by unilateral cortisol-secreting hyperfunctioning adrenal adenoma with contralateral nodular adrenal hyperplasia. After unilateral adrenalectomy guided by localization diagnosis, all of these 4 patients had complete remission. During a mean follow-up of 36 months, Cushing's syndrome or clinically important cortisol secretory autonomy did not recur.  Conclusions  AVS can contribute to measure the adrenal function in ACTH-independent Cushing's syndrome with bilateral adrenal masses, and is of important value to guide the decision on treatment. The key factors for successful AVS are catheterization into the adrenal vein and exclusion of endogenous interference factors.
Abstract:
  Objective  To analyze the clinical manifestations and molecular basis of a patient with primary renal glucosuria (PRG).  Methods  Clinical features, laboratory data, and imaging results were collected. Genomic DNA was extracted from leukocytes of peripheral blood of the patient. Fourteen exons of the PRG gene and their boundaries with introns were amplified by polymerase chain reaction (PCR). The mutations of the SLC5A2 gene were identified by direct sequencing.  Results  PRG was diagnosed on the basis of comprehensive consideration of clinical presentations, laboratory test results, and imaging findings. Gene mutation test revealed a nucleotide substitution of guanine for adenine at the position 877 of cDNA sequence of SLC5A2 gene (c.877 A>G), which caused a missense mutation of serine to cysteine at codon 293 (p.Ser293Cys). It occurred at the 7th exon of SLC5A2. Loci conservation analysis and functional prediction of missense mutation of SLC5A2 protein revealed that p.Ser293Cys was a pathogenic mutation.  Conclusions  SLC5A2 gene mutation analysis confirms the diagnosis of PRG in this patient from the aspect of molecular genetics.It is important to suspect PRG in patients with renal glucosuria and normal blood glucose in the absence of other manifestations ofproximal renal tubular dysfunction.Genetic analysis of SLC5A2 may be helpful to confirm the diagnosis.
Abstract:
  Objective  To explore the changes of serum creatinine (Cr) level in patients with primary hypothyroidism and the influencing factors of serum Cr level.  Methods  We retrospectively analyzed the clinical data of 27 patients with primary hypothyroidism who were treated at Peking Union Medical College Hospital between January 2006 and December 2010. The patients were divided into two groups according to the level of serum free thyroxine (FT4), i.e. clinical hypothyroidism group and subclinical hypothyroidism group. We calculated the creatinine clearance rate (CCr) with Cockcroft-Gault Formula and analyzed the relationship of serum Cr, blood urea nitrogen, and CCr with thyroid function and serum creatine kinase (CK).  Results  The serum Cr levels in 14.8% of the patients exceeded the normal range. The serum levels of Cr were negtively correlated with free triiodothyronine (FT3) (P < 0.0001, r=-0.628) and FT4 (P=0.016, r=-0.458). The serum Cr level in the clinical hypothyroidism group was higher than in the subclinical hypothyroidism group[(99.89±28.93)μmol/L vs. (74.67±8.03)μmol/L, P < 0.01]. After thyroxine treatment, the serum level of FT4 significantly increased (P=0.005) while the serum level of Cr significantly decreased (P=0.001). The serum Cr level was positively correlated with lnCK(P=0.032, r=0.596), and CCr was positively correlated with FT4(P=0.043, r=0.527).  Conclusions  Routine screening of thyroid function is recommended in patients with elevated serum Cr level. An increased serum Cr level is correlated with both the decrease of CCr and the damage of muscles. The level of serum Cr elevated due to hypothyroidism could return to normal range when the thyroid function recovers.
Abstract:
  Objective  To evaluate the function of hypothalamus-pituitary-gonad axis (HPGA) in patients with polycystic ovary syndrome (PCOS) using gonadotropin-releasing hormone (GnRH) analogue (triptorelin) stimulation test and to investigate the changes of HPGA following triptorelin stimulation test.  Methods  Triptorelin stimulation test was conducted in PCOS patients (n=20) and healthy controls (n=30). Serum levels of luteinizing hormone (LH) and follicular stimulating hormone (FSH) were measured at 0, 15, 30, 45, 60 and 90 minutes after intramuscular injection of triptorelin 100 μg in the test. LH and FSH levels and LH/FSH at baseline and after stimulation test were compared between the two groups.  Results  The control group had a higher level of testosterone than the PCOS group[(1.9±0.5)nmol/L vs. (3.5±1.4)nmol/L, P=0.012]. Baseline LH in the PCOS group was higher than that in the control group[(11.3±6.6)U/L vs. (3.7±2.7)U/L, P=0.028]. After triptorelin stimulation test, LH in the PCOS group increased with a larger magnitude than the control group[at 15 min, (41.4±28.0)U/L vs. (24.7±19.0)U/L, P=0.036; at 60 min, (64.0±34.8)U/L vs. (44.8±22.5)U/L, P=0.060]. Baseline FSH in the PCOS group and the control group were (4.6±2.0) and (4.9±1.6)U/L(P=0.467), respectively.FSH increased less in the PCOS group than in the control group[at 60 min, (9.9±4.0)U/L vs. (17.3±5.6)U/L, P=0.041]. Baseline LH/FSH ratios in the PCOS group and the control group were 2.9±1.1 and 0.8±0.2 (P=0.023), respectively, which both increased after triptorelin stimulation test (6.5±1.3 vs. 3.1±0.9, P=0.038).  Conclusions  PCOS patients demonstrate higher baseline LH and LH/FSH ratio, growing difference between LH and FSH levels and increasing LH/FSH ratio after triptorelin stimulation test, which indicate dysfunction of HPGA in PCOS patients.
Abstract:
  Objective  To identify the clinical characteristics of pancreatic cancer (PC) with diabetes mellitus (DM) and to analyze impact of different factors on the onset age of PC.  Methods  We collected the patients with PC and DM who were treated in Peking Union Medical College Hospital within the period from January1985 to October 2014 and met the inclusion criteria. We collected and analyzed basic information of the patients. The patients were divided into two subgroups according to the duration of DM:new-onset DM (≤ 2 years) and long-term DM (>2 years). We analyzed the clinical characteristics, cancer features, medical history, and medication history of the two subgroups, and the association between the onset age of PC and various factors including sex, life style, family history, past history, and medication.  Results  A total of 327 cases of PC with DM were included in this study. The proportion of male was higher and with a younger age of onset compared with female[(60.2±9.5)years vs. (65.7±8.5)years, P < 0.001]. Compared with the patients with long-term DM, the new-onset DM patients were younger at onset of PC[(60.6±9.5)years vs. (64.4±9.0)years, P < 0.001], with a lower proportion of positive family history of DM (13.8% vs. 24.3%, P=0.016), more loss of weight (9.0 kg vs. 5.0 kg, P=0.003), lower fasting blood glucose (8.2 mmol/L vs. 9.1 mmol/L, P=0.003), larger average tumor diameter(4.0 cm vs. 3.5 cm, P=0.007), and a lower proportion of taking insulin and anti-hypertensive drugs (41.9% vs. 71.3%, P < 0.001; 32.9% vs. 49.6%, P=0.004). The onset age of PC were younger in patients who were male (P < 0.001), smokers (P < 0.001), drinkers (P < 0.001), having family history of DM (P=0.048), and taking metformin (P=0.046), while the patients taking acarbose had older onset age of PC (P=0.042).  Conclusions  Patients newly diagnosed with DM might be at a high risk to develop PC if they have no family history of DM, experienced obvious weight loss, or are drinkers or smokers, thus demanding further investigation for PC.
Abstract:
  Objective  To analyze the clinical manifestations and molecular basis of a Uyghur patient with Gitelman's syndrome (GS).  Methods  Clinical features, laboratory data, and imaging results of this patient were collected. Genomic DNA was extracted from leukocytes of peripheral blood of the patient. Twenty-six exons of the GS gene and their boundaries with introns were amplified by polymerase chain reaction (PCR). The mutations of the SLC12A3 gene were identified by direct sequencing.  Results  GS was diagnosed based on comprehensive consideration of clinical presentations, laboratory test results, and imaging findings. Gene mutation test revealed a nucleotide substitution of adenine for guanine at the position 1964 of cDNA sequence of SLC12A3 gene (c.1964 G>A), which caused a missense mutation of arginine to histidine at codon 655 (p.Arg655His). It occurred at the 16th exon of SLC12A3.  Conclusions  SLC12A3 gene mutation analysis confirms the diagnosis of GS in this Uyghur patient from the aspect of molecular genetics. GS should be suspected in patients with per-sisting hypokalemia, renal potassium loss, metabolic alkalosis, normal or low-than-normal blood pressure, andhypocalcuria. Genetic analysis of SLC12A3 may be helpful to confirm the diagnosis.
Abstract:
  Objective  To explore the localization diagnosis method of Cushing's syndrome caused by ectopic adrenocorticotropic hormone (ACTH) syndrome due to bronchial carcinoid.  Methods  Based on the clinical data, we retrospectively analyzed the process and method of localization diagnosis in a 49-year-old female patient with Cushing's syndrome which was difficult to localize the etiology.  Results  The patient had been misdiagnosed as Cushing's disease, for which she had accepted transsphenoidal pituitary surgery. The symptoms of Cushing's syndrome persisted after the pituitary surgery. After six months' follow-up and treatment with ketoconazole for several weeks, chest CT revealed that the size of one small nodule(about 5 mm in diameter) in the right lung didn't change for 9 months. The somatostatin receptor scintigraphy and fluorodeoxyglucose-positron emission tomography (FDG-PET) could not confirm that the pulmonary nodule was the tumor producing ACTH. The results of inferior petrosal sinus sampling confirmed that the etiology was ectopic ACTH syndrome. After removing the right middle lobe of the lung through thoracoscopic surgery, plasma ACTH, serum cortisol, and 24-hour urinary free cortisol were reduced to normal. The nodule was histologically diagnosed as a typical bronchial carcinoid containing immune-reactive ACTH as shown in immunohistochemical staining.  Conclusions  Inferior petrosal sinus sampling may be important for localizing the lesion of ectopic ACTH production, which, combined with different imaging techniques, should be considered in patients suspected for ectopic ACTH syndrome. Exploratory surgery may be sometimes needed.
Abstract:
  Objective  To analyze the clinical features and therapy of patients with ectopic adrenocorticotrophic hormone (ACTH) syndrome and pneumocystis carinii pneumonia (PCP).  Methods  A retrospective study was conducted on one patient of ectopic ACTH syndrome with PCP diagnosed and treated in Peking Union Medical College Hospital. Relevant literature was reviewed.  Results  The patient was a 52-year-old woman presented with central obesity and weakness. Laboratory investigations revealed marked elevations of plasma ACTH and cortisol levels. A diagnosis of ectopic ACTH syndrome based on a carcinoid tumor in her right lung was made. The symptoms of complicated PCP occurred shortly after the resection of the tumor that caused ACTH syndrome and the reduction of plasma ACTH and cortisol levels, which were mainly fever, nonproductive cough, and shortness of breath. The patient recovered after the treatment of sulfamethoxazole and glucocorticoid.  Conclusions  PCP is a severe opportunistic infection in ectopic ACTH syndrome. Patients with higher cortisol level may at a higher risk of pneumocystis carinii infection. Clinical symptoms of PCP may be present after initiation of treatment, reduction of cortisol level, and recovery of immune functions. Early identification of etiological mechanism and prophylactic treatment for PCP may improve the prognosis of ACTH patients with PCP.
Abstract:
  Objective  To investigate the clinicopathological features and differential diagnosis of fibromatosis of the breast.  Methods  Five cases of breast fibromatosis were reviewed based on clinical, histomorphological, and immunohistochemical studies. Their clinical manifestations, pathologic features and main points of differential diagnosis were discussed.  Results  The 5 cases were all females, with age of onset ranging from 24 to 75 years and an average age of 53 years. Three cases underwent breast focal biopsy, and 2 cases underwent simple mastectomy. Breast fibromatosis was composed of spindle cells (fibroblasts/myofibroblasts) in a background of numerous thick and wavy collagen fibers, showing various degrees of hyaline degeneration. The cells varied in number, but all with absence or low degree of pleomorphism and hypercellularity, and scarcity of mitotic figures. According to immunohistochemical study, the 5 cases were all vimentin positive and SMA partly positive, 3 cases were β-catenin positive, while cytokeratin, desmin, EMA, S-100 and CD68 were negative.  Conclusion  Fibromatosis of the breast is a rare breast tumor, developing in a progressive and invasive pattern.
2015, 6(6): 414-414.
HTML (31) PDF(4)
Abstract:
2015, 6(6): 426-426.
HTML (242) PDF(8)
Abstract:
Abstract:
2015, 6(6): 436-436.
HTML (45) PDF(2)
Abstract:
2015, 6(6): 446-449. doi: 10.3969/j.issn.1674-9081.2015.06.010
HTML (57) PDF(7)
Abstract:
Abstract:
2015, 6(6): 450-453. doi: 10.3969/j.issn.1674-9081.2015.06.011
HTML (29) PDF(8)
Abstract:
2015, 6(6): 453-453.
HTML (2650) PDF(18)
Abstract:
2015, 6(6): 454-457. doi: 10.3969/j.issn.1674-9081.2015.06.012
HTML (19) PDF(3)
Abstract:
2015, 6(6): 457-457.
HTML (76) PDF(3)
Abstract:
2015, 6(6): 458-461. doi: 10.3969/j.issn.1674-9081.2015.06.013
HTML (39) PDF(2)
Abstract:
2015, 6(6): 461-461.
HTML (35) PDF(0)
Abstract:
2015, 6(6): 462-466. doi: 10.3969/j.issn.1674-9081.2015.06.014
HTML (30) PDF(6)
Abstract:
2015, 6(6): 466-466.
HTML (25) PDF(0)
Abstract:
2015, 6(6): 467-470. doi: 10.3969/j.issn.1674-9081.2015.06.015
HTML (23) PDF(7)
Abstract:
2015, 6(6): 470-470.
HTML (36) PDF(0)
Abstract:
2015, 6(6): 471-472. doi: 10.3969/j.issn.1674-9081.2015.06.016
HTML (29) PDF(4)
Abstract:
2015, 6(6): 473-476. doi: 10.3969/j.issn.1674-9081.2015.06.017
HTML (103) PDF(6)
Abstract:
2015, 6(6): 476-476.
HTML (32) PDF(6)
Abstract:
2015, 6(6): 477-480. doi: 10.3969/j.issn.1674-9081.2015.06.018
HTML (38) PDF(7)
Abstract: