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1.
World J Clin Cases ; 7(8): 961-971, 2019 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-31119141

RESUMO

BACKGROUND: Adrenocorticotropic hormone (ACTH)-independent Cushing's syndrome (CS) is mostly due to unilateral tumors, with bilateral tumors rarely reported. Its common causes include primary pigmented nodular adrenocortical disease, ACTH-independent macronodular adrenal hyperplasia, and bilateral adrenocortical adenomas (BAAs) or carcinomas. BAAs causing ACTH-independent CS are rare; up to now, fewer than 40 BAA cases have been reported. The accurate diagnosis and evaluation of BAAs are critical for determining optimal treatment options. Adrenal vein sampling (AVS) is a good way to diagnose ACTH-independent CS. CASE SUMMARY: A 31-year-old woman had a typical appearance of CS. The oral glucose tolerance test showed impaired glucose tolerance and obviously increased insulin and C-peptide levels. Her baseline serum cortisol and urine free cortisol were elevated and did not show either a circadian rhythm or suppression with dexamethasone administration. The peripheral 1-deamino-8-D-arginine-vasopressin (DDVAP) stimulation test showed a delay of the peak level, which was 1.05 times as high as the baseline level. Bilateral AVS results suggested the possibility of BAAs. Abdominal computed tomography showed bilateral adrenal adenomas with atrophic adrenal glands (right: 3.1 cm × 2.0 cm × 1.9 cm; left: 2.2 cm × 1.9 cm × 2.1 cm). Magnetic resonance imaging of the pituitary gland demonstrated normal findings. A left adenomectomy by retroperitoneoscopy was performed first, followed by resection of the right-side adrenal mass 3 mo later. Biopsy results of both adenomas showed cortical tumors. Evaluations of ACTH and cortisol showed a significant decrease after left adenomectomy but could still not be suppressed, and the circadian rhythm was absent. Following bilateral adenomectomy, this patient has been administered with prednisone until now, all of her symptoms were alleviated, and she had normal blood pressure without edema in either of her lower extremities. CONCLUSION: BAAs causing ACTH-independent CS are rare. AVS is of great significance for obtaining information on the functional state of BAAs before surgery.

2.
Medicine (Baltimore) ; 97(2): e9084, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29480822

RESUMO

Pituitary stalk interruption syndrome (PSIS) is associated with simultaneous or subsequent pituitary hormone deficiencies (PHDs). Although the clinical features of multiple PHDs are well known, the status of the thyrotrophic axis in PSIS has not been thoroughly investigated.The clinical data of 89 PSIS patients and 34 Sheehan syndrome (SS) patients were retrospectively analyzed.The prevalence of central hypothyroidism in the PSIS patients and the SS patients was 79.8% and 70.6%, respectively. The thyroid-stimulating hormone (TSH) levels in the PSIS patients were significantly higher in comparison with the SS patients (5.13 ±â€Š3.40 vs 1.67 ±â€Š1.20 mU/L, P < .05). TSH elevation (8.79 ±â€Š3.17 mU/L) was noticed in 29 of 71 (40.85%) hypothyroid PSIS patients but not in the 24 hypothyroid SS patients. The TSH levels in the hypothyroid PSIS patients were significantly higher in comparison with the euthyroid PSIS patients (5.42 ±â€Š3.67 vs 3.66 ±â€Š1.50 mU/L). Thyroid hormone replacement significantly reduced the TSH levels in the PSIS patients with elevated TSH levels from 7.24 ±â€Š0.98 to 1.67 ±â€Š1.51 mU/L (P < .05). The logistic regression analysis suggested that TSH level was not significantly associated with pituitary stalk status and height of the anterior pituitary gland.PSIS is a newly recognized cause of central hypothyroidism. The proportion and amplitude of TSH elevations are higher in PSIS than in other causes of central hypothyroidism.


Assuntos
Doenças da Hipófise/metabolismo , Tireotropina/metabolismo , Adulto , Feminino , Terapia de Reposição Hormonal , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Doenças da Hipófise/diagnóstico por imagem , Doenças da Hipófise/tratamento farmacológico , Doenças da Hipófise/epidemiologia , Hipófise/diagnóstico por imagem , Hipófise/efeitos dos fármacos , Hipófise/metabolismo , Prevalência , Estudos Retrospectivos , Tireotropina/administração & dosagem , Adulto Jovem
3.
Endocr J ; 65(3): 269-279, 2018 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-29279458

RESUMO

Primary macronodular adrenal hyperplasia (PMAH), also known in the past as bilateral macronodular adrenalhyperplasia or adrenocorticotropin (ACTH)-independent macronodular adrenal hyperplasia, is a rare type of Cushing's syndrome (CS) and is associated with bilateralenlargement of the adrenal glands. It accounts for <1% of all endogenous cases of CS. In order toidentify the pathogenic mutations in the causative gene of (AIMAH pedigrees, Whole-genome sequencing of three patients in family I was used to retrieve candidate causative genes. Meanwhile, the causative gene was identified by Sanger sequencing from the two pedigrees. Sequencing of ARMC5 exons of three patients was carried out to identify somatic mutations. Moreover, haploid clone of one tumor DNA sample was conducted. ARMC5 was the causative gene of two pedigrees confirmed by whole-genome sequencing (WGA) and Sanger sequencing. The variant sites of the two families were c.C943T (p.R315W) and c.C1960T (p.R654X), respectively. Autosomal dominant inheritance of AIMAH was confirmed by genotypes of one family member. Several somatic mutations were discovered in tumor DNA samples. In addition, haploid clone of tumor DNA was confirmed by germline mutation and somaticmutation, which suggested the pathogenic mechanism of "two-hit-model." ARMC5 was the causative gene of AIMAH pedigrees. This AIMAH in this study presented autosomal dominant inheritance, fitting to Mendelian inheritance law. However, the pathogenic mode of this disease showed as compound heterozygote.


Assuntos
Glândulas Suprarrenais/diagnóstico por imagem , Síndrome de Cushing/genética , Proteínas Supressoras de Tumor/genética , Adulto , Idoso , Proteínas do Domínio Armadillo , Síndrome de Cushing/diagnóstico por imagem , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Tomografia Computadorizada por Raios X , Sequenciamento Completo do Genoma
4.
Sci Rep ; 7(1): 15832, 2017 Nov 20.
Artigo em Inglês | MEDLINE | ID: mdl-29158505

RESUMO

The study aimed to investigate the gender-related differences of disease onset, age distribution, blood type, clinical characteristics, and malignant behaviors of differentiated thyroid carcinoma (DTC) in Chinese patients. A total of 7385 consecutive thyroid cancer patients who underwent thyroidectomy were retrospectively reviewed. 4087 (55.3%) were diagnosed as benign and the other (3298, 44.7%) were as malignant. DTC accounted for 97.6% in the malignant tumor. More single nodules turned out to be DTC in male compared to multiple nodules (46.9% vs. 40.4%, P = 0.004). The proportion increased along with the increase of year during 2000-2013, which was from 7.5% to 68.1% in males and from 16.2% to 66.7% in females. The level of preoperative TSH was significantly higher in patients with DTC compared to the patients with benign (1.97 vs. 1.57 mIU/L, P < 0.001). The proportion of thyroid cancer was dominated in blood type B and the lowest incidence in blood type A in male, the difference was not statistically significant. The results showed that age, nodule number, BMI and serum TSH were the related factors for DTC. More aggressive behaviors of DTC were observed in male patients, and more attention should be focused on the timely diagnosis and treatment of these patients.


Assuntos
Adenocarcinoma/epidemiologia , Carcinoma/epidemiologia , Neoplasias da Glândula Tireoide/epidemiologia , Adenocarcinoma/sangue , Adenocarcinoma/patologia , Adenocarcinoma/cirurgia , Adulto , Fatores Etários , Idoso , Tipagem e Reações Cruzadas Sanguíneas , Carcinoma/sangue , Carcinoma/patologia , Carcinoma/cirurgia , China/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Caracteres Sexuais , Neoplasias da Glândula Tireoide/sangue , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/cirurgia , Nódulo da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/cirurgia , Tireoidectomia , Tireotropina/sangue , Adulto Jovem
5.
Neuro Endocrinol Lett ; 37(3): 189-192, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27618603

RESUMO

OBJECTIVE: Patients with malignant insulinoma always present with symptoms of severe hypoglycemia and have poor life expectancy. In addition, inoperable metastatic malignant insulinomas are very difficult to manage. The aim of this report is to present our successful experiences in diagnosis and treatment of this disease in 6 patients. PATIENTS/METHODS: Six patients (male 2, female 4) with malignant insulinomas were admitted into our hospital. Their clinical histories, including clinical presentations, endocrine evaluations, radiological images, pathological examination and treatments, were reviewed. RESULTS: The diagnosis of malignant insulinoma combined with liver metastases was confirmed in all patients by endocrine evaluation and radiological images. Patients 1-3 underwent surgical management. The primary and metastasized tumors were completely resected. After successful surgery, no hypoglycemia recurred. Patients 4-6 did not undergo surgery because of systemic disease and poor health. Instead, they were administrated with diazoxide 50 mg Three Times a Day (TID), with final doses up to 200-300 mg TID. These 3 patients had good responses to diazoxide administration. After treatment, the frequency and severity of hypoglycemia were improved significantly. All 6 patients had better life quality than previously expected. CONCLUSION: Combination of surgical and medical approaches can improve life quality and prolong survival of patients with malignant insulinomas.


Assuntos
Insulinoma/patologia , Neoplasias Pancreáticas/patologia , Adulto , Diazóxido/uso terapêutico , Diuréticos/uso terapêutico , Feminino , Humanos , Hipoglicemia/tratamento farmacológico , Hipoglicemia/etiologia , Insulinoma/cirurgia , Insulinoma/terapia , Neoplasias Hepáticas/patologia , Neoplasias Hepáticas/secundário , Masculino , Pessoa de Meia-Idade , Neoplasias Pancreáticas/cirurgia , Neoplasias Pancreáticas/terapia , Estudos Retrospectivos , Adulto Jovem
6.
J Pediatr Endocrinol Metab ; 29(2): 209-16, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26495923

RESUMO

BACKGROUND: Reninoma is an extremely rare renal tumor characterized by excessive renin secretion causing secondary hypertension and hypokalemia. Reninoma is a benign and highly manageable lesion if it is discovered early and removed surgically. METHODS: We report six cases of reninoma and provide a literature review on this rare disease, highlighting the diagnostic evaluation and follow-up of each patient. RESULTS AND CONCLUSIONS: Reninoma should be considered in young adults with elevated renin activity and refractory hypertension. Imaging studies and selective venous catheterization are often helpful in identifying the lesion. In most cases of reninoma presenting with renin-mediated hypertension, conservative surgical treatment should be considered to remove the small, superficial lesion.


Assuntos
Hipertensão/fisiopatologia , Renina/fisiologia , Adolescente , Adulto , Feminino , Humanos , Masculino , Adulto Jovem
7.
Exp Biol Med (Maywood) ; 240(11): 1480-9, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26031747

RESUMO

Kallmann syndrome, a form of idiopathic hypogonadotropic hypogonadism, is characterized by developmental abnormalities of the reproductive system and abnormal olfaction. Despite association of certain genes with idiopathic hypogonadotropic hypogonadism, the genetic inheritance and expression are complex and incompletely known. In the present study, seven Kallmann syndrome pedigrees in an ethnic Han Chinese population were screened for genetic mutations. The exons and intron-exon boundaries of 19 idiopathic hypogonadotropic hypogonadism (idiopathic hypogonadotropic hypogonadism)-related genes in seven Chinese Kallmann syndrome pedigrees were sequenced. Detected mutations were also tested in 70 sporadic Kallmann syndrome cases and 200 Chinese healthy controls. In pedigrees 1, 2, and 7, the secondary sex characteristics were poorly developed and the patients' sense of smell was severely or completely lost. We detected a genetic mutation in five of the seven pedigrees: homozygous KAL1 p.R191ter (pedigree 1); homozygous KAL1 p.C13ter (pedigree 2; a novel mutation); heterozygous FGFR1 p.R250W (pedigree 3); and homozygous PROKR2 p.Y113H (pedigrees 4 and 5). No genetic change of the assayed genes was detected in pedigrees 6 and 7. Among the 70 sporadic cases, we detected one homozygous and one heterozygous PROKR2 p.Y113H mutation. This mutation was also detected heterozygously in 2/200 normal controls and its pathogenicity is likely questionable. The genetics and genotype-phenotype relationships in Kallmann syndrome are complicated. Classical monogenic inheritance does not explain the full range of genetic inheritance of Kallmann syndrome patients. Because of stochastic nature of genetic mutations, exome analyses of Kallmann syndrome patients may provide novel insights.


Assuntos
Análise Mutacional de DNA , Síndrome de Kallmann/etnologia , Síndrome de Kallmann/genética , Adolescente , Adulto , Sequência de Aminoácidos , Criança , China , Códon sem Sentido , Éxons , Proteínas da Matriz Extracelular/genética , Saúde da Família , Feminino , Estudos de Associação Genética , Heterozigoto , Homozigoto , Humanos , Hipogonadismo/etnologia , Hipogonadismo/genética , Íntrons , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Proteínas do Tecido Nervoso/genética , Linhagem , Fenótipo , Receptor Tipo 1 de Fator de Crescimento de Fibroblastos/genética , Receptores Acoplados a Proteínas-G/genética , Receptores de Peptídeos/genética , Homologia de Sequência de Aminoácidos , Adulto Jovem
8.
Medicine (Baltimore) ; 94(21): e841, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-26020388

RESUMO

The diagnosis of malignant thyroid nodules is still a clinical challenge. This study aimed to determine the ultrasonographic characteristics of papillary thyroid carcinoma. The ultrasonographic and pathological data of 2453 thyroid nodules in a cohort of 1895 Chinese patients who underwent thyroidectomy from January 2010 to December 2012 were retrospectively reviewed. Anteroposterior and transversal (AP/TR) diameters ≥1, solid structure, infiltrative margins, hypoechoic appearance, and microcalcifications were more common in malignant nodules than in benign nodules (P < 0.01). These ultrasonographic features were independent risk factors of malignancy (P < 0.01) as determined by logistic regression analysis. Based on multivariate analysis, these characteristics were also present in large nodules (diameter >10 mm). However, in small nodules (diameter ≤10 mm), only AP/TR ≥1 and infiltrative margins were independent risk factors of malignancy (P < 0.01). Ultrasonography is of high diagnostic value for malignant thyroid nodules and may help to improve the differential diagnosis. Small and large nodules have distinct ultrasonographic features.


Assuntos
Carcinoma Papilar/diagnóstico por imagem , Carcinoma Papilar/diagnóstico , Carcinoma/diagnóstico por imagem , Carcinoma/diagnóstico , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia por Agulha Fina , Calcinose , Carcinoma/cirurgia , Carcinoma Papilar/cirurgia , Criança , China , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Câncer Papilífero da Tireoide , Neoplasias da Glândula Tireoide/cirurgia , Ultrassonografia , Adulto Jovem
9.
Neuro Endocrinol Lett ; 36(7): 650-2, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26859586

RESUMO

Lipodystrophies is a really rare group of diseases characterized by altered body fat amount and/or repartition and serious insulin resistance.We reported a lean Chinese girl with acquired generalized lipodystrophy, who had a long history of poorly controlled diabetes mellitus (DM) despite with extremely high dose insulin (6 u/kg/d) therapy, combined with severe hypertriglyceridemia and acanthosis nigricans. The differential diagnosis of Lipodystrophies should be considered in lean patients presenting with early onset DM, combined with serious insulin resistance.

10.
Endocr J ; 60(11): 1261-8, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24018882

RESUMO

This study was conducted to evaluate gender-related differences in clinical characteristics and vascular complications in patients with aldosterone-producing adenomas (APA). Clinical characteristics, biochemical markers and incidence of vascular complications were compared by gender in 187 consecutive patients with APA confirmed by pathological diagnosis. Patients were separated into two groups based on ages either older or younger than 49 years, the average age of menopause among Chinese women (<49 y and ≥49 y). Males had significantly higher BMI than females in the age group of <49 years (p = 0.017). In the <49 years group, males had significantly higher serum sodium levels (p = 0.003). However, no such gender differences in clinical characteristics were observed in patients ≥49 years. A higher proportion of vascular complications was observed in males as compared to females aged <49 years but the difference was not statistically significant (51.4% vs. 34.8%, p = 0.105). The only gender difference observed in vascular complications between patients aged ≥49 years was that a significantly greater proportion of males had cerebrovascular complication compared to females (p = 0.006). Our data suggest that female sex hormones are implicated in reducing serum sodium concentration and vascular complications in female APA patients.


Assuntos
Adenoma/epidemiologia , Adenoma/metabolismo , Neoplasias das Glândulas Suprarrenais/metabolismo , Aldosterona/metabolismo , Hipertensão/epidemiologia , Hipertensão/prevenção & controle , Sódio/sangue , Adenoma/cirurgia , Neoplasias das Glândulas Suprarrenais/epidemiologia , Neoplasias das Glândulas Suprarrenais/cirurgia , Adrenalectomia , Aldosterona/biossíntese , Biomarcadores/sangue , Transtornos Cerebrovasculares/epidemiologia , China/epidemiologia , Comorbidade , Feminino , Hormônios Esteroides Gonadais/metabolismo , Humanos , Hiperaldosteronismo/epidemiologia , Hiperaldosteronismo/metabolismo , Masculino , Pessoa de Meia-Idade , Potássio/sangue , Estudos Retrospectivos , Caracteres Sexuais , Distribuição por Sexo , Fatores Sexuais , Doenças Vasculares/epidemiologia
12.
Clin Endocrinol (Oxf) ; 79(1): 86-92, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23199197

RESUMO

OBJECTIVES: Pituitary stalk interruption syndrome (PSIS) is rare and its clinical features and pathogenesis are poorly understood. This study characterized the clinical and genetic features of PSIS in Chinese patients. DESIGN AND PATIENTS: Clinical data of 58 patients with PSIS and 46 patients with GH deficiency but a normal pituitary stalk (NPS) were retrospectively analysed. HESX1, LHX4, OTX2 and SOX3 polymorphisms were screened in 33 PSIS patients, and GH1 and GHRHR in 4 NPS patients. RESULTS: Deficiency of GH was 100% in both PSIS and NPS groups. Other deficiency rates for PSIS and NPS groups were as follows: ACTH, 77·6% and 23·9%; TSH, 43·1% and 10·9%; LH/FSH, 94·2% and 47·4%; and combined pituitary hormone, 93·1% and 41·3% respectively. In PSIS and NPS patients, the percentages of anterior pituitary hypoplasia were 98·3% and 54·3%, pituitary stalk abnormality were 100% and 0%, and ectopic neurohypophysis were 91·4% and 0%. A novel heterozygous sequence variant (c.142A>T, p.T48S) was found in HESX1 in one PSIS patient, 3 polymorphisms (c.63T>C, p.G21G; c.450C>T, p.N150N; and c.983A>G, p.N328S) in LHX4 in 7, 1 and 31 PSIS patients, respectively, and a hemizygous polymorphism (c.157G>C, p.V53L) in SOX3 in one PSIS patient. No OTX2 abnormality was detected in PSIS patients, and no GH1 or GHRHR polymorphisms in NPS patients. CONCLUSIONS: Compared with NPS, PSIS patients had more severe anterior pituitary hormone deficiency, lower anterior pituitary hormone secretion and higher probability of abnormal pituitary morphology. HESX1, LHX4 and SOX3 polymorphisms may be associated with PSIS.


Assuntos
Predisposição Genética para Doença/genética , Doenças da Hipófise/genética , Hipófise/patologia , Polimorfismo Genético , Adolescente , Sequência de Aminoácidos , Grupo com Ancestrais do Continente Asiático/genética , Criança , China , Feminino , Frequência do Gene , Genótipo , Hormônio do Crescimento/deficiência , Hormônio do Crescimento/genética , Proteínas de Homeodomínio/genética , Humanos , Proteínas com Homeodomínio LIM/genética , Masculino , Dados de Sequência Molecular , Fatores de Transcrição Otx/genética , Doenças da Hipófise/etnologia , Receptores de Neuropeptídeos/genética , Receptores de Hormônios Reguladores de Hormônio Hipofisário/genética , Estudos Retrospectivos , Fatores de Transcrição SOXB1/genética , Homologia de Sequência de Aminoácidos , Síndrome , Fatores de Transcrição/genética , Adulto Jovem
13.
Zhonghua Nei Ke Za Zhi ; 52(12): 1041-4, 2013 Dec.
Artigo em Chinês | MEDLINE | ID: mdl-24503403

RESUMO

OBJECTIVE: To explore the imaging features of congenital adrenal cortex hyperplasia (CAH). METHODS: A total of 45 patients clinically confirmed as CAH were retrospectively analyzed to investigate the imaging features and strengthening way of the multi-detector-row Computed tomography. RESULTS: The imaging features of all the cases presented as following: 25 with bilateral adrenal hyperplasia, 6 with unilateral adrenal hyperplasia, 6 with adrenal nodular hyperplasia, 2 with adrenal hyperplasia and unilateral solid cystic lesion, 2 with adrenal hyperplasia and double side real cystic lesion, 1 with adrenal hyperplasia and unilateral cystic changes and 3 with normal adrenal. The unilateral or bilateral hyperplasia adrenal could be homogeneously enhanced, while the enhanced performance of other cases was inequitable. CONCLUSIONS: The adrenal imaging features of CAH by multi-detector-row CT are variable, with the bilateral adrenal hyperplasia as the main form, which could be restored to normal morphology after hormone replacement therapy.No regression of the tumor size is observed in cases with adrenal mass. CT scanning combined with clinical manifestation and biochemical examination could facilitate the diagnosis of CAH.


Assuntos
Hiperplasia Suprarrenal Congênita/diagnóstico por imagem , Tomografia Computadorizada Espiral , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Estudos Retrospectivos , Adulto Jovem
14.
J Pediatr Endocrinol Metab ; 25(11-12): 1077-82, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23329752

RESUMO

Steroid 5α-reductase type 2 deficiency (5α-RD2) is a rare autosomal recessive inherited disorder caused by mutations in the SRD5A2 gene. Its clinical features and pathogenesis in Chinese patients are poorly understood. This study aimed to characterize the clinical features and genetically analyze the SRD5A2 gene in three Chinese 5α-RD2 patients. The patients were characterized by ambiguous genitalia and spontaneous virilization without breast development at puberty. Elevated post-human chorionic gonadotropin stimulation T/DHT ratios were useful indicators of 5α-RD2 (with ratios of 20.4, 20.1, and 26.6 in the three patients, respectively). Two compound heterozygous mutations in the SRD5A2 gene were identified: p.G203S/p.R246Q in patients 1 and 2 and p.G203S/c.655delT in patient 3. The father and the mother of patients 1 and\xa02 were carriers of p.R246Q and p.G203S, respectively. p.G203S appears to be common in Chinese 5α-RD2 patients. Early genetic analysis should be performed in suspected patients to improve prognosis.


Assuntos
3-Oxo-5-alfa-Esteroide 4-Desidrogenase/deficiência , 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética , Proteínas de Membrana/deficiência , Proteínas de Membrana/genética , Mutação , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/enzimologia , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Adolescente , Grupo com Ancestrais do Continente Asiático/genética , Criança , Feminino , Genitália Feminina/anormalidades , Humanos , Prognóstico , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Virilismo/diagnóstico , Virilismo/enzimologia , Virilismo/genética
15.
Zhonghua Yi Xue Za Zhi ; 91(20): 1408-12, 2011 May 31.
Artigo em Chinês | MEDLINE | ID: mdl-21756814

RESUMO

OBJECTIVE: To explore the effect of LRP (leukemia related protein) 16 on insulin resistance in C2-C12 cells and explore its molecular mechanism. METHODS: Lipidosome transfection and lentivirus mediated siRNA (small interfering RNA) technology were used to establish LRP 16 overexpression and underexpression cell lines and their corresponding control cell lines. And 2-deoxy-[(3)H]-glucose was used to measure the effect of LRP 16 on insulin-stimulated glucose uptake. The effects of LRP16 on the phosphorylation of IRS (insulin receptor substrate)-1, Akt and the expressions of PI3K (p85), PPAR (peroxisome proliferator actived receptor) γ and GLUT-4 were detected by Western blot. Luciferase was used to study the effect of LRP16 on the transcriptional activity of PPARγ. RESULTS: Insulin-stimulated glucose uptake decreased to 46% of the control when LRP16 was over-expressed [(4700 ± 97) vs. (10200 ± 347), P < 0.01]. And the insulin-stimulated glucose uptake was 1.73 fold of control when the expression of LRP16 was suppressed in C2-C12 cells [(17600 ± 466) vs (10200 ± 91), P < 0.05]. The overexpression of LRP16 attenuated the insulin-induced tyrosine phosphorylation of IRS-1, the phosphorylation of Akt and the expressions of PI3K (p85), PPARγ and GLUT-4. But it promoted the insulin-induced phosphorylation of IRS-1 at Ser307 in C2-C12 cells. LRP16 decreased the transcriptional activity of PPARγ in a dose-dependent manner. The transcriptional activity of PPARγ decreased to 43% and 27% of the control when the doses of pcDNA3.1-16 were 0.4 µg and 0.5 µg [(76 ± 11) vs (33 ± 9), P < 0.01] and 27% [(21 ± 9) vs (76 ± 11), P < 0.01]. CONCLUSION: LRP16 gene causes insulin resistance in C2-C12 cells by inhibiting the IRS-1 signaling and the transcriptional activity of PPARγ.


Assuntos
Proteínas Substratos do Receptor de Insulina/metabolismo , Resistência à Insulina , Mioblastos/metabolismo , Proteínas de Neoplasias/genética , PPAR gama/metabolismo , Animais , Proteínas de Transporte/metabolismo , Linhagem Celular , Insulina/metabolismo , Camundongos , Receptor de Insulina/metabolismo , Transdução de Sinais
16.
Endocr J ; 58(8): 675-83, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21666339

RESUMO

Recurrent autoimmune hypophysitis is a rare autoimmune endocrine disease involving lymphocytic infiltration and chronic pituitary inflammation. It is even more rare than primary hypophysitis. The objective of the study was to evaluate the efficacy of glucocorticoid treatment combined with azathioprine for treating three cases of recurrent autoimmune lymphocytic hypophysitis encountered within a two-year period. The clinical features and follow-up data of these cases were analyzed, including results of treatment with glucocorticoids combined with azathioprine. All three patients were female and presented with the following clinical characteristics: case 1 was a 22-year-old with headache and diplopia; case 2 was a 70-year-old with dry mouth, polydipsia, and polyuria; case 3, a 32-year-old, with polydipsia, polyuria and menstrual disorders with headache and dizziness. Regarding recurrence, case 1 recurred 4 months after surgery and again 14 months after discontinuing prednisone; case 2 relapsed 16 months after receiving high-dose methylprednisolone pulse therapy; and case 3 recurred during the period of prednisone dose reduction. The patients were treated with glucocorticoids plus azathioprine, and positive responses were seen in all three cases. Symptoms were relieved, and MRI revealed significant reduction of lesions during follow-up. Pituitary function resumed in cases 1 and 3; permanent hypopituitarism was present in case 2. At last follow-up, MRI showed no further recurrence of disease in any patient. Treatment and responses of these patients with autoimmune hypophysitis suggest that glucocorticoid therapy combined with azothioprine is effective treatment for recurrent autoimmune hypophysitis. Endocrine and radiologic studies are an essential part of follow-up.


Assuntos
Doenças Autoimunes/tratamento farmacológico , Azatioprina/administração & dosagem , Encefalite/tratamento farmacológico , Glucocorticoides/administração & dosagem , Doenças da Hipófise/tratamento farmacológico , Adulto , Idoso , Anti-Inflamatórios/administração & dosagem , Quimioterapia Combinada , Feminino , Humanos , Imunossupressores/administração & dosagem , Recidiva , Resultado do Tratamento , Adulto Jovem
17.
Chin Med J (Engl) ; 124(22): 3820-3, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22340248

RESUMO

BACKGROUND: Subclinical apoplexy of pituitary functional adenoma can cause spontaneous remission of hormone hypersecretion. The typical presence of pituitary growth hormone (GH) adenoma is gigantism and/or acromegaly. We investigated the clinical characteristics of patients with spontaneous partial remission of acromegaly or gigantism due to subclinical apoplexy of GH adenoma. METHODS: Six patients with spontaneous remission of acromegaly or gigantism were enrolled. The clinical characteristics, endocrinological evaluation and imageological characteristics were retrospectively analyzed. RESULTS: In these cases, the initial clinical presences were diabetes mellitus or hypogonadism. No abrupt headache, vomiting, visual function impairment, or conscious disturbance had ever been complained of. The base levels of GH and insulin growth factor-1 (IGF-1) were normal or higher, but nadir GH levels were all still > 1 µg/L in 75 g oral glucose tolerance test. Magnetic resonance imaging detected enlarged sella, partial empty sella and compressed pituitary. The transsphenoidal surgery was performed in 2 cases, and the other patients were conservatively managed. All the patients were in clinical remission. CONCLUSIONS: When the clinical presences, endocrine evaluation, biochemical examination and imageology indicate spontaneous remission of GH hypersecretion in patients with gigantism or acromegaly, the diagnosis of subclinical apoplexy of pituitary GH adenoma should be presumed. To these patients, conservative therapy may be appropriate.


Assuntos
Acromegalia/diagnóstico , Gigantismo/diagnóstico , Adenoma Hipofisário Secretor de Hormônio do Crescimento/complicações , Neoplasias Hipofisárias/complicações , Acromegalia/etiologia , Adolescente , Adulto , Idoso , Feminino , Gigantismo/etiologia , Humanos , Imuno-Histoquímica , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Adulto Jovem
18.
Zhonghua Nei Ke Za Zhi ; 49(10): 851-4, 2010 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-21162887

RESUMO

OBJECTIVE: To study the cerebrospinal fluid (CSF) and serum level of human chorionic gonadotropin (HCG) in patients with intracranial germinoma and to evaluate its diagnostic and therapeutic value. METHODS: Thirty-one patients with intracranial germinoma receiving estimation of HCG in CSF and serum in our hospital were retrospectively analyzed in terms of HCG level, its influencing factors and the relationship of HCG with clinical features. RESULTS: HCG levels in CSF of the 31 cases ranged from 0.17 IU/L to 5316.98 IU/L with a median value of 3.44 IU/L. The sensitivity of diagnosis increased from 80.6% to 90.3%, when the cut point of HCG in CSF changed from 0.60 IU/L to 0.50 IU/L. The sensitivity increased from 83.9% to 93.5% when the cut point of the ratio of CSF/serum HCG decreased from 1.8 to 1.7. HCG level of germinoma located in pineal region was higher than that in basal ganglia region, while it is lowest in sellar region. The ratio of CSF/serum HCG in different parts showed no difference. Multiple risk factors analysis revealed that serum HCG (r = 0.886, P = 0.0001) and tumor size (r = 0.748, P = 0.0211) were positively correlated with the HCG level in CSF, while course of the disease, age and gender were not correlated. After radiation therapy, HCG in CSF and serum decreased dramatically as compared with those before radiation. CONCLUSIONS: The HCG level and its dynamic change were sensitive marker of intracranial germinomas. Based on our analysis, HCG in CSF over 0.50 IU/L and the its ratio in CSF/serum over 1.7 were highly indicative of the possibility of intracranial germinomas.


Assuntos
Neoplasias Encefálicas , Gonadotropina Coriônica/líquido cefalorraquidiano , Germinoma , Adolescente , Adulto , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/terapia , Criança , Gonadotropina Coriônica/sangue , Feminino , Germinoma/diagnóstico , Germinoma/terapia , Humanos , Masculino , Estudos Retrospectivos , Adulto Jovem
19.
Zhonghua Yi Xue Za Zhi ; 90(46): 3272-5, 2010 Dec 14.
Artigo em Chinês | MEDLINE | ID: mdl-21223785

RESUMO

OBJECTIVE: To retrospectively evaluate the diagnostic accuracy of ultrasonographic (US) features for the pre-operative differentiation of benign and malignant thyroid nodules by using pathological diagnosis as the reference standard. METHODS: A total of 1501 patients with 2123 thyroid nodules (1864 malignant, 259 benign) diagnosed intra-operatively and undergoing pre-operative ultrasonography at our hospital were recruited. The following characteristics of US images were evaluated: nodule size, shape, margin, echotexture, echogenicity, presence and type of calcification, blood flow inside or around nodules and the presence of ipsilateral cervical lymphadenectasis. RESULTS: (1) The risk of malignancy was higher in a solitary nodule than in a non-solitary nodule [16.7% (109/653) vs 10.2% (150/1470), P=0.000]. The mean diameter of benign nodules was larger than that of malignant nodules [(2.4±1.4) vs (2.1±1.9) cm, P=0.009]. (2) Microcalcification, irregular shape, ill-defined border, solid and hypoechogenicity were more common in malignant nodules. Irregular shape had the highest sensitivity and positive predictive value while microcalcification had the highest diagnostic accuracy. (3) Nodules with a rich blood flow inside tended to have a higher risk of malignancy. The distribution pattern of blood flow around the nodules was not associated with the differentiation of benign and malignant thyroid nodules. Nodules with the presence of ipsilateral cervical lymphadenectasis had a higher risk of malignancy than those without lymphadenectasis [28.3% (80/283) vs 9.6% (92/963), P<0.01]. (4) If microcalcification, irregular shape, ill-defined border, solid, hypoechogenicity and the presence of ipsilateral cervical lymphadenectasis were treated as the characteristics of malignancy, a higher frequency of these characteristics was correlated with a higher risk of malignancy. CONCLUSION: Despite a lack of specific US imaging characteristics in malignant thyroid nodules, microcalcification and irregular shape appear closely correlated with malignancy. A combined use of conventional US characteristics may improve the accuracy of differential diagnosis.


Assuntos
Neoplasias da Glândula Tireoide/diagnóstico por imagem , Nódulo da Glândula Tireoide/diagnóstico por imagem , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Retrospectivos , Ultrassonografia
20.
Zhonghua Yi Xue Za Zhi ; 89(22): 1570-2, 2009 Jun 09.
Artigo em Chinês | MEDLINE | ID: mdl-19953888

RESUMO

OBJECTIVE: To evaluate the clinical significance of glycated albumin (GA) measured by enzymatic method and to compare its effect with glycosylated hemoglobin A1c (HbA1c) in type 2 diabetes mellitus (DM). METHODS: 128 type 2 DM patients and 84 normal subjects from the Chinese PLA General Hospital were enrolled for the study. The levels of GA, HbA1c, FBG, PBG in DM patient were detected at baseline and followed visit at 2, 4, 8 weeks after blood glucose management. The levels of GA, HbA1c, FBG, PBG and 75 g OGTT were also detected in above normal subjects. RESULTS: Intra CV and inter CV of enzymatic were (0.74-0.9)% and (0.94-1.49)% respectively. In normal subjects GA was in the range of (9-14)%. At baseline, the GA level was significantly correlated with HbA1c (r = 0.8326, P < 0.01), FBG and 2 hour PBG. After 2, 4, 8 weeks treatment, GA level in DM patients was concomitantly decreased with the improvement of FBG, PBG and HbA1c. At early 2 weeks visit, GA, but not HbA1c, showed significant decrease from its baseline (P < 0.05). CONCLUSION: Enzymatic measuring GA was highly correlated with HbA1c, and changing concomitantly with the decrease of HbA1c, FBG, PBG during the 8 weeks treatment. GA was more sensitive than HbA1c for short-term variations of glycemic control during treatment of diabetic patients. GA can be used as a better index of short term mean level of blood glucose in diabetic patients.


Assuntos
Diabetes Mellitus Tipo 2/sangue , Imunofluorescência/métodos , Hemoglobina A Glicada/análise , Albumina Sérica/análise , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
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