Objective To evaluate the diagnostic significance of blood cells and electrolyte in preoperative diagnosis and surgical treatment of Cushing's disease (CD).Methods 116 csses of CD and 21 cases of adrenocortical adenoma (ACA) patients pathologically proven adrenocorticotropic hormone (ACTH) adenoma from Jan.2003 to Dec.2010 were enrolled into the study.They were given transsphenoidal surgery (TSS) and laparoscopic resection of adrenal adenoma (LRAA).Patients were divided into remission group ( group A),non-remission group (group B) and ACA group (group C) according to the remission criteria of CD.The preoperative and postoperative level of blood cells and electrolyte were determined.Results TSS treatment improved the abnormal level of blood cells and electrolyte in patients with CD.Group A had significant change in preoperative and postoperative level of blood cells and electrolyte,while group B and group C didn't.Conclusions Compared with the endocrine examination items which need huge expense and harsh conditions,the change of blood cells and electrolyte level is more superior in assessing diagnostic and cruative effects on CD patients.

Objective To investigate the methods of diagnosis and treatment of pediatric and hebetic adrenocorticotropic hormone ( ACTH) secreting pituitary microadenoma. Methods The data of 10 patients with ACTH secreting pituitary microadenoma were retrospectively analysed. ACTH secreting pituitary microadenoma was diagnosed by clinical manifestations, biochemical and imaging findings, and 5 patients underwent bilateral inferior petrosal sinus sampling ( BIPSS). Transsphenoidal surgery was performed on all the patients under microscope, and the tumor specimens were detected by immunohistochemistry. Results Immunohistochemical examination revealed that ACTH was positive in 8 cases and negative in 2 cases. Patients were followed up for 12 to 63 months, 7 cases (70%) were cured, one (10%) achieved remission, and the other two (20%) experienced recurrence. Conclusion BIPSS is helpful in the diagnosis and localization of pediatric and hebetic ACTH pituitary microadenoma, and transsphenoidal surgery is the optimal choice of treatment.

One patient confirmed as pituitary carcinoma by histopathology was retrospectively analyzed according to the great changes of tumor invasive growth in imaging examine and clinical characters. Clinically,pituitary carcinoma quickly grows,and the growth character of tumor is helpful in the diagnosis. Moreover,the treatment for pituitary carcinoma is different from pituitary adenoma.The rapid progress of pituitary adenoma indicates the possibility of primary carcinoma.More experience should be accumulated for the diagnosis and treatment of the disease.

Objective To analyze clinical charaCteristics and diagnostic experience on thyrotropinoma (TSHoma).Methods Clinical characteristics,laboratory findings,diagnostic experience,and surgical outcome were summarized from 16 cases of TSHoma in our hospital from January 2006 to September 2011.Results ( 1 )Among 16 cases ( 9 male,7 female ) aged ( 51.63 ± 13.23 ) years,14 ( 87.5 ％ ) cases presented with hyperthyroidism and 2 were diagnosed by physical examination. None of them had exophthalmos, acropachy, or pre-tibial myxedema.( 2 ) Serum FT4 and FT3 levels were all above normal range with serum TSH ( 4.37 ± 2.77 ) μIU/ml.There were 25％ (4/16) cases with positive serum thyroglobulin antibody and/or thyroid peroxidase antibody,none with positive TSH receptor antibody.TRH stimulating test was performed in 9 cases,3 were with positive response ( peak TSH level increased by 5.45-9.20 μIU/ml compared with baseline),and 6 without response (peak TSH level increased by -0.01-3.15 μIU/ml compared with baseline).TSH was suppressed to 27.15％ (5.19％-99.15 ％ ) of the baseline in 11 cases in which somatostatin suppression test was carried out.Prolactin and insulin-like growth factor-Ⅰ levels were increased in 2 cases.MRI performed in 15 patients showed 10 cases of microadenomas and 5 cases of pituitary adenoma.A mass in nasal cavity was found in one case,where no mass was found in the pituitary.( 3 )Surgery was made in 11 cases ( 9 patients underwent transsphenoidal operation,one craniotomy,and one underwent operation via endoscopic nasal septum ). All patients (11/11) were proved to yield pituitary adenoma pathologically.Conclusion Thyrotropinoma should be considered in hyperthyroidism with unsuppressed TSH level,and dynamic tests facilitated early diagnosis.Ectopic thyrotropinoma shoull be considered when normal pituitary morphology was shown by MRI.

Objective To evaluate the values of bilateral inferior petrosal sinus sampling ( BIPSS),high dosage dexamethasone suppression test (HDDST) and pituitary image in the differential diagnosis of ACTH-dependent Cushing's syndrome. Methods Totally 87 patients with confirmed pathological diagnosis were recruited in the study.All received the procedure of BLPSS,HDDST,and pituitary MRI with dynamic enhancement.The diagnostic performances of three differential diagnosis methods in ACTH-dependent Cushing's syndrome were evaluated.Results Seventy-eight patients were diagnosed as cases of pituitary ACTH adenoma,and the remaining 9 were confirmed cases of ectopic ACTH syndrome due to the thymic carcinoid.The sensitivity and specificity of HDDST,pituitary MRI,and BIPSS for the diagnosis of ACTH-dependent Cushing's syndrome were 82.1％ and 100％,79.5％ and 44.4％,92.3％ and 100％,respectively.In Cushing's disease,the diagnostic accuracy was 83.9％ with HDDST,77.0％with pituitary MRI,and93.1％ with BIPSS.In those patients with Cushing's disease,the coincidence of lateralization was 83.9％ with BIPSS and 64.5％ with MRII.Conclusion BIPSS was better than the other two methods in differential diagnosis of ACTH-dependent Cushing's syndrome.Compared with the pituitary MRI,the concordant rate of BIPSS in lateralization of the tumor is higher,and it is more reliable.

EBSS (epidermolysis bullosa simplex superficialis) is mainly caused by gene mutations which targeted protein as plakophilin-1, desmoplakin and keratins. 1p36 gene deleted could cause typical clinical manifestations and might also affect the expression of functional genes in other regions. Here we reported the first case of PKP1 gene and DSP gene mutation coexisted with 1p36 deletion presented as serious EBSS and 1p36 deletion syndromes and identified a new homozygous mutation in the PKP1 gene (chr1:201292246 c.1672 T＞C) and in the DSP gene (chr6:7580346 c.3923C＞T).

EBSS (epidermolysis bullosa simplex superficialis) is mainly caused by gene mutations which targeted protein as plakophilin-1, desmoplakin and keratins. 1p36 gene deleted could cause typical clinical manifestations and might also affect the expression of functional genes in other regions. Here we reported the first case of PKP1 gene and DSP gene mutation coexisted with 1p36 deletion presented as serious EBSS and 1p36 deletion syndromes and identified a new homozygous mutation in the PKP1 gene (chr1:201292246 c.1672 T＞C) and in the DSP gene (chr6:7580346 c.3923C＞T).

BACKGROUNDCushing's disease (CD) presents a remarkable preponderance in female gender, and a significant minority of patients with CD presented with negative magnetic resonance imaging (MRI) findings. The aim of this study was to evaluate gender-related and MRI classification-related differences in clinical and biochemical characteristics of CD.

METHODSWe retrospectively studied 169 patients with CD, comprising 132 females and 37 males, and 33 patients had no visible adenoma on MRI.

RESULTSWe observed that male and MRI-positive patients presented with high adrenocorticotropic hormone (ACTH) values (P < 0.05). Female patients presented with higher prevalence of hirsutism and hyperpigmentation and lower prevalence of purple striae (P < 0.05). The prevalence of buffalo-hump and hypertension was greater in MRI-negative patients (P < 0.05). In addition, male patients with CD presented at a younger age compared with females (P < 0.05). Patients with fatigue and hypokalaemia presented significantly higher urinary-free cortisol, ACTH and cortisol levels compared with patients without these symptoms (P < 0.05). The prevalence of LH reduction, hyper total cholesterol (TC) and hyper low-density lipoprotein was more frequent in MRI-positive patients (P < 0.05). Hyper-TC levels and PRL reduction were more frequent in males (P < 0.05). T3, T4 and FT3 levels negatively correlated with age at diagnosis (r = -0.310, P < 0.01; r = -0.191, P < 0.05; r = -0.216, P < 0.05). T3, T4, FT3 and FT4 levels significantly negatively correlated with 8-am plasma cortisol levels (r = -0.328, P < 0.01; r = -0.195, P < 0.05; r = -0.333, P < 0.01; r = -0.180, P < 0.05). Females presented higher total protein level (P < 0.01) and lower blood urea nitrogen and serum creatinine levels (P < 0.01), compared with male patients.

CONCLUSIONSCarefulness and caution are required in all patients with CD, because of the complexity of clinical and biochemical characteristics in CD patients of different gender and MRI classification, particularly male patients and MRI-negative patients.

Adolescent ; Adult ; Aged ; Dyslipidemias ; diagnosis ; Female ; Humans ; Hypertension ; diagnosis ; Hypokalemia ; diagnosis ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Pituitary ACTH Hypersecretion ; complications ; diagnosis ; Retrospective Studies ; Sex Factors ; Young Adult