RESUMEN
Objective@#To improve the understanding of thyrotropin-secreting adenoma in multiple endocrine neoplasia type 1(MEN1) through analyzing the clinical diagnosis and treatment process, as well as outcomes in one case of this disorder.@*Methods@#The clinical manifestations, biochemical and hormone levels, imaging presentations, medical and surgical treatments, and post-operational pathologic findings in the process of diagnosis and treatment of a patient with thyrotropin-secreting adenoma in MEN1 were analyzed. The next generation sequencing followed by Sanger method was used for analyzing MEN1 and related genes. The results were evaluated with online PolyPhen2 and PROVEAN for variation hazard.@*Results@#One 19-year old male patient was diagnosed with hyperthyroidism due to thyrotoxicosis and high level of thyroid hormones(THs) with measurable TSH(2.78 mIU/L) and negative thyrotropin receptor antibody(TRAb). Meanwhile, primary hyperparathyroidism was suggested by hypercalcemia, hypophosphatemia, and elevated intact parathyroid hormone(PTH) level, all the parameters were returned to normal after surgical resection of the mass which was below the left thyroid lobe indicated by ultrasound and 99mTc scan. Thyrotoxicosis remained in spite of one year treatment with antithyroid drug, thyrotropinoma was then suspected, and subsequent MRI scan found a macroadenoma at right pituitary. TSH and THs returned to normal 1 month after transsphenoidal removal of the adenoma. As expected, immunohistochemical staining revealed TSH positive. In addition, a pancreatic mass was found by both CT and MRI scan, which was considered as a silent neuroendocrine tumor. Gene analysis revealed a missense mutation of MEN1 as c. 415C>T and p. His139Tyr(H139Y), which was predicted highly hazard. Only five cases of thyrotropinoma in MEN1 were previously reported.@*Conclusion@#Thyrotropinoma should be cautiously identified from hyperthyroidism to avoid misdiagnosis and mistreatment, and it should keep in mind that thyrotropinoma may be associated with MEN1 though it would be very rare.
RESUMEN
Objective:To improve the understanding of thyrotropin-secreting adenoma in multiple endocrine neoplasia type 1(MEN1) through analyzing the clinical diagnosis and treatment process, as well as outcomes in one case of this disorder.Methods:The clinical manifestations, biochemical and hormone levels, imaging presentations, medical and surgical treatments, and post-operational pathologic findings in the process of diagnosis and treatment of a patient with thyrotropin-secreting adenoma in MEN1 were analyzed. The next generation sequencing followed by Sanger method was used for analyzing MEN1 and related genes. The results were evaluated with online PolyPhen2 and PROVEAN for variation hazard.Results:One 19-year old male patient was diagnosed with hyperthyroidism due to thyrotoxicosis and high level of thyroid hormones(THs) with measurable TSH(2.78 mIU/L) and negative thyrotropin receptor antibody(TRAb). Meanwhile, primary hyperparathyroidism was suggested by hypercalcemia, hypophosphatemia, and elevated intact parathyroid hormone(PTH) level, all the parameters were returned to normal after surgical resection of the mass which was below the left thyroid lobe indicated by ultrasound and 99mTc scan. Thyrotoxicosis remained in spite of one year treatment with antithyroid drug, thyrotropinoma was then suspected, and subsequent MRI scan found a macroadenoma at right pituitary. TSH and THs returned to normal 1 month after transsphenoidal removal of the adenoma. As expected, immunohistochemical staining revealed TSH positive. In addition, a pancreatic mass was found by both CT and MRI scan, which was considered as a silent neuroendocrine tumor. Gene analysis revealed a missense mutation of MEN1 as c. 415C>T and p. His139Tyr(H139Y), which was predicted highly hazard. Only five cases of thyrotropinoma in MEN1 were previously reported. Conclusion:Thyrotropinoma should be cautiously identified from hyperthyroidism to avoid misdiagnosis and mistreatment, and it should keep in mind that thyrotropinoma may be associated with MEN1 though it would be very rare.
RESUMEN
OBJECTIVE@#To report on the clinical pictures of 7 patients from a pedigree affected with X-linked adrenal hypoplasia congenita (XL-AHC) and hypogonadotropic hypogonadism (HH) and the underlying mutations.@*METHODS@#Seven patients were identified from a four-generation pedigree affected with XL-AHC and HH. Their clinical features, endocrinological changes, treatment and drug response were recorded. The patients were subjected to next-generation sequencing, and the result was verified by Sanger sequencing. PolyPhen-2 was used for predicting the influence of the mutation on protein production.@*RESULTS@#Three deceased patients had manifested adrenal insufficiency (AI) within one year after birth. Two died at 6 and one died at 12. The four survivors presented with salient clinical and endocrinological features of AHC and HH, adrenal and testicular atrophy, and renin-angiotensin compensation. Two adult patients had testicular micro-stone detected by ultrasound.One of them also had remarkable seminiferous tubule degeneration by biopsy. The patients were followed up for 0.5 to 10 years. All required hyper-physiological dose of hydrocortisone to stabilize their clinical condition. In three patients, gonadotropic or androgen replacement induced cardinal masculine development but with unsatisfactory testis growth and sperm production.Genetic analysis revealed a novel missense c.827A>C (p.Q276P) mutation in a hotspot region within a highly conserved domain. PolyPhen-2 predicted the mutation to be highly hazardous.@*CONCLUSION@#The novel p.Q276P mutation of the DAX1 gene probably underlies the XL-AHC and HH in this pedigree with variable clinical presentations in the patients.
Asunto(s)
Humanos , Masculino , Insuficiencia Suprarrenal , Receptor Nuclear Huérfano DAX-1 , Genética , Insuficiencia Corticosuprarrenal Familiar , Genética , Mutación , Mutación Missense , Linaje , Proteínas RepresorasRESUMEN
[Summary] Sixty-one patients suffering from pituitary apoplexy( PA) were mainly diagnosed according to pathologic findings, and were collected from case record, pathology, and MRI databases. They were classified into 4 types according to the clinical condition: the insidious type was characterized with only positive pathological findings;the asymptomatic type had both positive pathologic and MRI findings; the subacute type had PA associated symptoms longer than 2 weeks; and the acute type had PA associated symptoms for 2 weeks or less. The latter 2 types had positive pathological and MRI findings additionally. The basic lesions, acute or chronic symptoms, endocrinopathies and MRI findings were compared among 4 types. Results showed as followed. In all patients, there were headache(60. 7% ), blurred vision(55. 7% ), vomiting(21. 3% ), and dizziness(14. 8% ). Apoplexy associated symptoms comprised severe headache (24. 6% ), rapid vision loss (29. 5% ), and blepharopotosis or diplopia (9. 83% ). Insidious, asymptomatic, subacute, and acute types were composed of 15 (24. 6% ), 9 (14. 8% ), 19 (31. 1% ), and 18 (29. 5% ) cases, respectively. Aging and intracranial space-occupying symptoms as first complaint showed increasing trend from mild to severe types(both P<0. 05), while in chronic course it showed decreasing trend(P<0. 05). Acute massive symptoms(P<0. 01), and non-functional tumor(P<0. 01) in the 2 clinical types were much more frequent than in the two mild types. Half or more pituitary-target glands showed impaired functions in each type, and the impairment showed increasing trend through mild to severe types(P<0. 01). The present study provided a brief typing system in order to expand PA concept to a wider span covering various conditions. Some differences in tumor composition and endocrinopathies existed among the four types.
RESUMEN
Normal function of growth hormone-insulin-like growth factor Ⅰaxis is essential for linear growth after birth. A case of continuous growth with undetectable growth hormone level even under insulinhypoglycemia stimulation was reported. The growth hormone deficiency was due to pituitary stalk interruption combined with deficiency of multiple pituitary hormones. Taken together with reviewed literature, this so-called nongrowth hormone-dependent linear growth was preconditioned by other hormones, especially gonadotropin deficiency,and the unclosed epiphysis.
RESUMEN
221 subjects at risk for MS were enrolled and evaluated.The discovered mean number of MS components was little greater by IDF definition than by CDS one(2.33 vs 2.09,P>0.05).The concordance rate of both definitions was 80% in diagnosing MS.The female MS prevalence was higher by IDF (18/83) than by CDS (2/83)(P<0.05).But male MS prevalence was higher by CDS (18/138) than by IDF (7/138) (P<0.05).In those with normal glycaemia, more individuals were diagnosed to have MS by IDF definition (21/94,22.3%) than by CDS one (10/97,10.3%)(P<0.05).Of people with MS diagnosed on CDS definition, 11 (12%) were non-obese.Finally, 6% MS people was missed by IDF definition due to neglecting postprandial-challenge glycemia.In conclusions, the two definitions are comparable in identifying MS and its components, while from CDS to IDF definition some MS people drift in the way as follows: from men to women, from dysglycemia to abnormal fat metabolism, and from non-obesity to obesity.
RESUMEN
BACKGROUND: It is believed previously that hyperbaric oxygen(HBO)therapy can prevent stroke, but some scholars think HBO therapy on the contrary can induce stroke although its pathogen and prevention are unclear.OBJECTIVE: To study the reason of cerebral thrombosis induced by HBO and the preventive effects of the medicine.DESIGN: A retrospective study based on patients as subjects.SETTING: Department of HBO in a military area command hospital ofChinese PLA.PARTICIPANTS: Totally 192 hospitalized patients receiving HBO therapy in Guangzhou General Hospital of Guangzhou Military Area Command of Chinese PLA were selected, in which there were 127 males and 65 females aged between 9 and 78 years old. A total of 6 cases including 3 male and 3 female cases aged between 51 and 76 years old developed cerebral thrombosis during therapy.METHODS: The background factors of 192 patients who received HBO therapy and the included 6 cerebral thrombosis cases were analyzed. Totally preventive effects of the medicine on a cluster level of different risk factor. Three groups of patients received different interventions under the prerequisites of routine medications including blood-activating and stasis-eliminating, neurotrophy, and vasodilator patients of nitric ether group received oral administration of isosorbide dinitrate or glycerin trinitrate; patients of calcium antagonist group received oral administration of Sibelium or Novarsc; and patients of no specific medication group did not receive any preventive medicine.MAIN OUTCOME MEASURES: Patients' symptoms, physical signs andhead CT or MRI.RESULTS: The risk factor of cerebral thrombosis induced by HBO was the basic disease of hyperlipidemia or hypertension, etc. A total of 115 cases had the cluster with less than 4 risk factors and none of them developed thrombosis. A total of 31 cases had the cluster with 4 or more than 4 risk factors and 6 of them developed thrombosis with greatly increased morbidity. Above the level of 4 risk factors, nitrate ether had effective preventive effect(0/13) while there was 33.3% of the patients(5/15) in calcium antagonist group developed thrombosis, and the difference between the above two groups was significant( P ＜ 0.05).CONCLUSION: The cluster level of risk factors has close relationship with the probability of thrombosis induced by HBO. Nitrate ether has significant preventive effects.
RESUMEN
Objective To study the clinical features of the ectopic ACTH syndrome in order to increase the early diagnostic rate. Methods Clinical features and imaging diagnosis of 8 consecutive patients with ectopic ACTH syndrome were described and laboratory data were compared with those of 16 consecutive patients with ACTH-dependent Cushing′s syndrome accompanied with hypokalemia. Results The ectopic ACTH syndrome occurred in 11.3% of all patients with Cushing′s syndrome and the common causes were lung cancer and bronchial carcinoid. The clinical features of the ectopic ACTH syndrome differ from those of ACTH-dependent Cushing′s syndrome. Ectopic ACTH syndrome occured predominently in men and showed the duration of symptoms less than 5 months and a more rapid clinical course. There were apparent muscle weakness, edema of lower extremities, higher plasma ACTH and free cortisol (F), severe metabolic alkalosis and more negative responses to the high dose of dexamethasone suppression test. Chest X-rays and CT were helpful for tumor localization. The prognosis depended on whether the tumor was malignant or benign, and complete surgical resection of tumor was the key treatment. Conclusion Ectopic ACTH syndrome could be distinguished from the ACTH-dependent Cushing′s syndrome with hypokalemia according to the clinical features, laboratory data, plasm ACTH and F levels, as well as chest X-rays and CT.
RESUMEN
ObjectiveTo investigate the effect of hyperglycemia on calcium load and cyclic AMP content in normal and STZdiabetic rat skeletal muscle.MethodsCalcium load and cyclic AMP content were measured in vivo and in vitro after incubation with 5.6mmol/L and 16.7mmol/L glucose concentration.Atom spectrum absorption assay for calcium and radioimmunoassay for cAMP were employed.ResultsHigh concentration glucose elevated cyclic AMP content and lessened calcium load significantly.Cyclic AMP also elevated in diabetic skeletal muscle incubated with even 5.6mmol/L glucose.Diabetes was necessary for high concentration glucose to elevate cyclic AMP in vitro,because cyclic AMP did not change in normal rat muscle even incubated with 16.7mmol/L glucose.But diabetes discounted the reduction of calcium load induced by 16.7mmol/L glucose.ConclusionThe effects of hyperglycemia on calcium load and cyclic AMP content in skeletal muscle may accord with its antiinsulin action,which may be involved in the mechanism of glucose toxicity.
RESUMEN
Objective To analyze the CT and MRI features of pituitary stalk interruption syndrome, so that to improve the diagnostic knowledge of this disease.Methods The imaging and clinical data of 4 patients with pituitary stalk interruption syndrome were retrospectively analyzed. Results In all of the 4 cases, the pituitary stalk were not shown by CT in 2 and by MRI in 4,the high signal intensity of the posterior lobe disappeared on T1WI,while a small nodule in infundibulum with high signal intensity on T1WI was found. Conclusion MRI is the most valuable imaging modality for the diagnosis of pituitary stalk interruption syndrome.
RESUMEN
Objective To investigate the relationship of glycaemia level and the artery stiffness by means of ultrasonography. Methods Among the individuals selected for screening for impaired glucose tolerance, the systolic and diastolic diameters of both common carotid arteries in a single cardiac cycle, and the intima-media thickness were measured. Based on these measured parameters the artery compliance (AC), stiffness index and Yang's elastic Model (YEM) were calculated. Both fasting blood sugar level and that of 2 hours after 75g glucose challenge were quintiled so as to compare the arteriosclerosis surrogates. Linear correlation and partial linear regression were used to analyze the relationship of both fasting and post-challenge blood sugar levels with the three surrogates. Finally, those surrogates were also compared among different glucose tolerance categories. Normal glucose tolerance (NGT, n=97), impaired glucose tolerance (IGT, n=51) and type 2 diabetes mellitus (T2DM, n=73) were classified by the previous results of 75g oral glucose tolerance test. Results The AC decreased, and SI and YEM elevated significantly after the third quintile of fasting glycaemia, while the similar changes were found after the fourth quintile of 2 hour glycaemia. Both fasting and post-challenge glycaemia correlated inversely with AC and positively with SI and YEM. Partial correlation analysis showed that the significance of the correlation of fasting glucose with the arteriosclerosis surrogates disappeared but that of post-challenge glucose with those surrogates remained. In different categories of glucose tolerance, AC decreased but YEM rose significantly in IGT and T2DM when compared with NGT. The SI of T2DM was higher than of NGT. However the three surrogates remained similar between IGT and T2DM. Conclusions Artery stiffness was enhanced with the increase in fasting or post-challenge glycaemic levels. Post-challenge glycaemia was a better determinant than fasting glycaemia. The degree of arteriosclerosis in IGT was higher than that in NGT, but was similar to that of T2DM.