RESUMEN
We report on a 30-year-old man with azoospermia, primary hypogonadism and minor dysmorphic features who carried a balanced insertional chromosome translocation inv ins (2p24;4q28.3q31.22)de novo. Molecular cytogenetic analyses of the chromosome breakpoints revealed the localization of the breakpoint in 4q28.3 between BACs RP11-143E9 and RP11-285A15, an interval that harbours the PCDH10 gene. In 4q31.22, a breakpoint-spanning clone (RP11-6L6) was identified which contains the genes LSM6 and SLC10A7. On chromosome 2, BACs RP11-531P14 and RP11-360O18 flank the breakpoint in 2p24, a region void of known genes. In conclusion, the chromosome aberration of this patient suggests a gene locus for primary hypogonadism in 2p24, 4q28.3 or 4q31.2, and three possible candidate genes (LSM6, SLC10A7 and PCDH10) were identified by breakpoint analyses.
Asunto(s)
Cromosomas Humanos Par 2/genética , Cromosomas Humanos Par 4/genética , Hipogonadismo/genética , Adulto , Cadherinas/genética , Humanos , Hibridación Fluorescente in Situ , Masculino , Transportadores de Anión Orgánico Sodio-Dependiente/genética , Protocadherinas , Proteínas de Unión al ARN/genética , Simportadores/genética , Translocación GenéticaRESUMEN
Herein we present the case for the existence of a thymic cortical epithelial cell that possesses an unusual gene transcription. It produces tissue-specific proteins that have their usual physiological functions outside the thymus and presents them, as well as household proteins, to the differentiating thymocytes. We suggest that this specialized cell enforces tolerance to most self-proteins by causing release of a signal for programmed cell death to thymocytes that express receptors for these self-antigens.
Asunto(s)
Modelos Inmunológicos , Proteínas/inmunología , Autotolerancia/inmunología , Timo/inmunología , Animales , Humanos , Biosíntesis de Proteínas , Linfocitos T/inmunología , Timo/citología , Timo/metabolismoRESUMEN
The thymic nurse cell is a unique type of epithelial cell in the thymic cortex. It is in intimate contact with the developing thymocytes by harbouring up to 200 thymocytes in distinct vacuoles, called caveoles. This investigation is concerned with the nurse cell expression of the intercellular adhesion molecule ICAM-1, the ligand for thymocyte LFA-1. Nurse cells from young Balb/c mice were isolated in a density gradient. ICAM-1 expression was studied by using two different immunotechniques: alkaline phosphatase labelled cryosections, and immunogold electron microscopy. The specific antibody was a monoclonal rat anti-mouse ICAM-1. Immunostaining of cryosections demonstrated that ICAM-1 is expressed on the surface membrane and in the internal caveolar membranes of thymic nurse cells. Electron microscopy of immunogold labelled sections revealed ICAM-1 on the surface membrane of thymic nurse cells and on the membranes of the caveoles, the small cytoplasmic vesicles, as well as on the Golgi apparatus.
Asunto(s)
Células Epiteliales/metabolismo , Molécula 1 de Adhesión Intercelular/biosíntesis , Membranas Intracelulares/metabolismo , Timo/metabolismo , Vacuolas/metabolismo , Animales , Células Epiteliales/química , Células Epiteliales/ultraestructura , Femenino , Molécula 1 de Adhesión Intercelular/química , Molécula 1 de Adhesión Intercelular/ultraestructura , Membranas Intracelulares/química , Membranas Intracelulares/ultraestructura , Macrófagos/química , Macrófagos/ultraestructura , Masculino , Ratones , Ratones Endogámicos BALB C , Microscopía Inmunoelectrónica , Coloración y Etiquetado , Timo/química , Timo/citología , Vacuolas/química , Vacuolas/ultraestructuraRESUMEN
AIM: The aim of our prospective study was to optimize the determination of the pituitary somatostatin receptor status by means of 111-In-pentetreotide scintigraphy and to compare it intraindividually with the pharmacological effect of octreotide in active acromegaly. METHODS: In n = 22 patients with growth hormone (GH) secreting pituitary adenoma, 111-In-pentetreotide scintigraphy was performed, and the specific radionuclide accumulation in the pituitary area (evaluation visually as well as semiquantitatively by means of ROI technique and calculation of various uptake indices) was correlated with the acute drop of GH after administration of 100 micrograms octreotide s. c. (octreotide acute test). RESULTS: The uptake index we propose (cts/pixel-ratio circular pituitary ROI: irregular cerebrum ROI after background correction in the sagittal SPECT slice with maximum pituitary uptake 24 h p.i.) correlates best with the pharmacological effect (acute decrease of GH levels) of octreotide; its upper normal limit amounts of 3.5. CONCLUSION: As often the normal pituitary gland can be visualized scintigraphically, the purely visual differentiation between a normal and a pathological receptor status sometimes is equivocal. A pituitary uptake index, calculated by means of a standardized ROI technique, facilitates this discrimination and so contributes to select possible responders for a treatment with octreotide.
Asunto(s)
Acromegalia/diagnóstico por imagen , Acromegalia/tratamiento farmacológico , Antineoplásicos Hormonales/uso terapéutico , Radioisótopos de Indio , Octreótido/uso terapéutico , Hipófisis/diagnóstico por imagen , Somatostatina/análogos & derivados , Adenoma/diagnóstico por imagen , Adulto , Anciano , Femenino , Hormona de Crecimiento Humana/metabolismo , Humanos , Radioisótopos de Indio/farmacocinética , Masculino , Persona de Mediana Edad , Hipófisis/metabolismo , Neoplasias Hipofisarias/diagnóstico por imagen , Valor Predictivo de las Pruebas , Pronóstico , Somatostatina/farmacocinética , Distribución Tisular , Tomografía Computarizada de Emisión de Fotón ÚnicoRESUMEN
Gynaecomastia, or enlargement of the male breast may result from various endocrine dysfunctions and often reflects ectopic production of substances such as hCG and estradiol. We report on the case of a 30 year old man who presented with gynaecomastia and elevated plasma levels of hCG, estradiol and testosterone. As a result of several diagnostic procedures such as selective venous sampling and magnetic resonance tomography (MRT), a hCG producing tumor of the upper lobe of the left lung was found. This hormonal overproduction induced an enhanced secretion of estradiol and testosterone in the testicular tissue. Histology revealed a giant cell carcinoma with positive immunostaining for hCG. This case report further underlines the necessity of an intensive search for ectopic beta-hCG production due to malignant tumours, in particular in the adult.
Asunto(s)
Carcinoma de Células Gigantes/diagnóstico , Gonadotropina Coriónica/metabolismo , Ginecomastia/etiología , Neoplasias Pulmonares/diagnóstico , Adulto , Carcinoma de Células Gigantes/metabolismo , Carcinoma de Células Gigantes/patología , Carcinoma de Células Gigantes/cirugía , Gonadotropina Coriónica/sangre , Deshidroepiandrosterona/análogos & derivados , Deshidroepiandrosterona/sangre , Sulfato de Deshidroepiandrosterona , Estradiol/sangre , Estradiol/metabolismo , Humanos , Hidrocortisona/sangre , Neoplasias Pulmonares/metabolismo , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/cirugía , Imagen por Resonancia Magnética , Masculino , Testículo/metabolismo , Testosterona/sangre , Testosterona/metabolismo , Tomografía Computarizada por Rayos XRESUMEN
Grey level was measured in 93 ultrasonic scans of the thyroid gland in order to quantify hypoechogenicity in diffuse inflammatory thyroid disease. Using a modern ultrasound device (256 grey-scale steps and 7.5-MHz parallel scan), grey levels were measured in normal thyroid glands and euthyreotic goiters as well as in thyroiditis or Graves' disease using a programmed setting of the device. Highly significant differences were found between normal thyroid glands and thyroiditis or Graves' disease. Sensitivity of the method was 65% in discriminating Graves' disease and 91% in discriminating thyroiditis; specificity was 95%. The clinical value of the method for follow-up studies in inflammatory diseases of the thyroid gland still has to be established.
Asunto(s)
Glándula Tiroides/diagnóstico por imagen , Tiroiditis/diagnóstico por imagen , Adolescente , Adulto , Anciano , Síndromes del Eutiroideo Enfermo/diagnóstico por imagen , Femenino , Bocio/diagnóstico por imagen , Bocio Nodular/diagnóstico por imagen , Enfermedad de Graves/diagnóstico por imagen , Humanos , Masculino , Persona de Mediana Edad , Valores de Referencia , Tiroiditis/etiología , UltrasonografíaRESUMEN
Bechterew's disease is a chronic-inflammatory condition of the spine, with a tendency toward stiffening and relatively frequent involvement also of the hip, knee and shoulder joints. Contrary to most other rheumatic diseases, drug therapy plays a rather minor role. The focus is on movement, in line with the motto that "Bechterew patients need movement". The sports therapy concept of the Münster University Bechterew group as well as initial experience are set out.
Asunto(s)
Terapia por Ejercicio , Espondilitis Anquilosante/rehabilitación , Deportes , Evaluación de la Discapacidad , HumanosRESUMEN
The aim of this study was to clarify the extent of bone mineral deficiency in patients with Klinefelter's syndrome on the premise that testosterone substitution could prevent this deficiency. Bone mineral density was measured by single-photon absorptiometry in 42 patients with Klinefelter's syndrome, (21 patients without therapy, 10 with testosterone substitution before the age of 20 and 11 patients with testosterone substitution beginning after the age of 20). We found significantly lower bone mineral density in patients without therapy and in patients when the therapy began later compared to normal individuals. Patients with early therapy showed a high proportion of normal values of bone mineral density. We found a positive correlation between bone mineral density and plasma testosterone and a negative correlation between plasma testosterone and age for patients without therapy. These findings suggest that low testosterone levels before or during puberty cause inadequate bone development and low bone mineral density in Klinefelter's syndrome. Only early testosterone substitution may prevent bone mineral deficiency. Later substitution no longer affects bone mineral density.
Asunto(s)
Densidad Ósea , Síndrome de Klinefelter/fisiopatología , Testosterona/uso terapéutico , Adulto , Anciano , Humanos , Síndrome de Klinefelter/complicaciones , Síndrome de Klinefelter/tratamiento farmacológico , Masculino , Persona de Mediana Edad , Valores de Referencia , Testosterona/sangreRESUMEN
OBJECTIVE: The response to subcutaneous (SC) gonadotropin replacement therapy, using human chorionic gonadotropin (hCG) and human menopausal gonadotropin (hMG) or hCG alone, was evaluated in male hypothalamic hypogonadism. DESIGN: Sixteen patients with hypothalamic hypogonadism were treated with gonadotropins for induction of puberty and normalization of spermatogenesis. The results were analyzed retrospectively. SETTING: The study was carried out in a clinical endocrinology department providing tertiary care and in private practices of endocrinology. PATIENTS: Eight patients with idiopathic hypogonadotropic hypogonadism and eight patients with Kallmann's syndrome in prepubertal or early pubertal stages. INTERVENTIONS: Human chorionic gonadotropin and hMG were administered SC in individual dosages. MAIN OUTCOME MEASURES: Increase of serum testosterone (T), testicular volume, semen volume, and sperm count were evaluated. RESULTS: Normalization of serum T and complete sexual maturation was achieved in all patients. Spermatogenesis was induced in all but two patients. Seven patients showed normal findings in semen volume and sperm count, and two patients had semen quality close to normal. In five patients sperm count remained less than 10 x 10(6)/mL. CONCLUSIONS: The results obtained by SC gonadotropin replacement prove this mode of administration to be effective in stimulating steroidogenesis and spermatogenesis in hypogonadotropic males.
Asunto(s)
Gonadotropina Coriónica/administración & dosificación , Eunuquismo/tratamiento farmacológico , Hipogonadismo/tratamiento farmacológico , Menotropinas/administración & dosificación , Adolescente , Adulto , Quimioterapia Combinada , Eunuquismo/sangre , Eunuquismo/fisiopatología , Humanos , Hipogonadismo/sangre , Hipogonadismo/fisiopatología , Inyecciones Intramusculares , Masculino , Estudios Retrospectivos , Maduración Sexual , Espermatogénesis , Testículo/crecimiento & desarrollo , Testículo/fisiología , Testosterona/sangreRESUMEN
The aim of the study was to investigate the influence of 40 mg of the beta-blocker penbutolol (Betapressin TM; Hoechst Ltd., Frankfurt/Main) in comparison to placebo on the insulin consumption on the blood sugar profile in twelve insulin-dependent diabetes (IDDM) patients. The patients were treated with penbutolol and placebo for a period of three days, and then were examined with the help of the glucose-controlled insulin infusion system. The blood sugar profile and insulin consumption over a 24 hour period was not affected by either penbutolol or placebo, nor could any changes be measured in these parameters when measured after food intake. After a submaximal exercise load on the bicycle ergometer (1 watt per kg body weight) following an evening meal, no difference could be observed between penbutolol and placebo in the above-mentioned parameters. The same was also true for hormonal parameters as STH, ACTH, cortisol, and catecholamines. These findings demonstrated that medication of penbutolol over a three-day period has no influence on the baseline blood sugar profile and insulin consumption or on insulin consumption after food intake during rest and physical exercise.
Asunto(s)
Glucemia/metabolismo , Diabetes Mellitus Tipo 1/sangre , Ejercicio Físico/fisiología , Sistemas de Infusión de Insulina , Penbutolol/farmacología , Adolescente , Adulto , Catecolaminas/sangre , Diabetes Mellitus Tipo 1/fisiopatología , Femenino , Hormonas/sangre , Humanos , Insulina/sangre , Masculino , PlacebosRESUMEN
The follow-up of Graves' ophthalmopathy was analysed regarding to clinical and chemical data on the one hand and to dependence on different therapeutic alternatives on the other. 297 patients (44 +/- 14 years, 249 female, 48 men) were observed with inclusion of data from the history and clinical data as well (computer tomography and orbital sonography). At the onset of therapy 253 patients were hyperthyroid, 36 euthyroid and eight showed hypothyroidism. The staging was: I 13, II 54, III 113, IV 95, V five, VI eight patients. The HLA-typing in 89 patients showed the following results: B8 in 32%, DR3 in 42%, B8 as well as DR3 in 24% of the patients. In about 50% of the cases there were raised microsomal and in about 18% there were raised thyroglobuline antibodies. 63% of the patients received immunosuppressive medication: corticosteroids in 100% (more than one time in 43%), cyclosporine A in 11%, ciamexone in 10%, other non-steroid immunosuppressants in 5% of the cases. The retrobulbar irradiation was performed in 9%, and total thyroidectomy in 7%. During therapy the inflammatory process was clearly ameliorated, however exophthalmos and diplopia were more resistant to treatment. In the group of patients with combined cyclosporine and prednisone therapy and in the group of patients with total thyroidectomy and partly retrobulbar radiotherapy, significant differences were observed regarding to visual acuity and Hertel values. None of the therapies applied constitutes an optimal treatment with the regard to the long-term course. Under therapy an improvement can be reached, but no complete healing.
Asunto(s)
Enfermedad de Graves/terapia , Adolescente , Adulto , Anciano , Terapia Combinada , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Estudios RetrospectivosAsunto(s)
Enfermedad de Graves/terapia , Adolescente , Adulto , Anciano , Femenino , Glucocorticoides/uso terapéutico , Enfermedad de Graves/clasificación , Enfermedad de Graves/diagnóstico , Enfermedad de Graves/radioterapia , Humanos , Inmunosupresores/uso terapéutico , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Pregnadienos/uso terapéutico , Pronóstico , Estudios Retrospectivos , Tiroidectomía , Tomografía Computarizada por Rayos X , UltrasonografíaRESUMEN
In this study we examined the preoperative value of the clonidine-suppression test in 15 patients with surgically proved pheochromocytomas. The result of the clonidine-suppression test was pathological (epinephrine plus norepinephrine above 500 ng/l 3 h after clonidine) in 10 of 15 patients (66%). These patients had relatively large tumors and higher basal norepinephrine plasma levels. Out of the 5 cases without a pathological clonidine test 4 had normal basal plasma catecholamine levels with the result that the clonidine test could not be properly applied and 1 case produced a false negative result. These 5 cases generally had smaller tumors and lower plasma catecholamine levels. Two of these cases had basally raised epinephrine values. The other three cases had either a paradoxical increase or a suspiciously low fall (less than 25%) in norepinephrine within the normal range. We conclude that the clonidine-suppression test is only reliable for the diagnosis of relatively large pheochromocytomas.
Asunto(s)
Neoplasias de las Glándulas Suprarrenales/diagnóstico , Clonidina , Epinefrina/sangre , Norepinefrina/sangre , Feocromocitoma/diagnóstico , Neoplasias de las Glándulas Suprarrenales/sangre , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Feocromocitoma/sangreRESUMEN
From 1979 to 1986, seven patients with multiple endocrine neoplasia (MEN) type IIa and three with type IIb were treated. Nine had a C-cell carcinoma, one had C-cell hyperplasia. None had hyperparathyroidism. Three patients had multiple mucous neuromas. Six patients had proven pheochromocytoma: adrenalectomy was performed in these six (unilateral or bilateral depending on whether the tumor was uni- or bilateral). All ten patients had a total thyroidectomy--three later required neck dissection for regional lymphnode metastases. One patient died from the consequences of diffuse liver metastases of a C-cell carcinoma. Extensive family screening is necessary with patients who have MEN type II, in order to discover early any occult disease carriers. In addition, MEN type II should be excluded in all patients who have C-cell carcinoma, pheochromocytoma or hyperparathyroidism.
Asunto(s)
Neoplasias de las Glándulas Suprarrenales/diagnóstico , Neoplasia Endocrina Múltiple/diagnóstico , Neuroma/diagnóstico , Feocromocitoma/diagnóstico , Adolescente , Neoplasias de las Glándulas Suprarrenales/terapia , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasia Endocrina Múltiple/terapia , Neuroma/terapia , Feocromocitoma/terapia , PronósticoRESUMEN
In a retrospective study of 31 patients with suspected pheochromocytoma we examined the preoperative results of 131I-metaiodobenzylguanidine (131-I-MIBG) scintigraphy and a fluorimetric urine catecholamine determination test. An additional radioenzymatic plasma catecholamine determination test was performed in 25 patients. In 14 of the 31 patients the diagnosis of pheochromocytoma was later histologically confirmed. In the remaining 17 patients the suspected diagnosis was finally rejected after a clinical decision had been made on the basis of clinical history, symptoms, laboratory and imaging tests. 131-I-MIBG scintigraphy apparently had a very high specificity (no false-positive results among the patients with rejected diagnosis), but showed the least sensitivity (3 of 14 tumours were not detected). Urine catecholamines showed two false-negative and three false-positive results. Plasma catecholamines had the highest sensitivity and gave only one false-positive result. Because of its high pathognomonic value 131-MIBG scintigraphy can be helpful not only for localization, but also for confirmation of diagnosis when catecholamine determination tests are contradictory. On the basis of our experience with false-positive results after interfering medication therapy, urine and plasma catecholamine determination tests should only be carried out after purification with thin layer chromatography or high performance liquid chromatography.
Asunto(s)
Neoplasias de las Glándulas Suprarrenales/diagnóstico , Catecolaminas/análisis , Yodobencenos , Feocromocitoma/diagnóstico , 3-Yodobencilguanidina , Neoplasias de las Glándulas Suprarrenales/diagnóstico por imagen , Adulto , Anciano , Catecolaminas/sangre , Catecolaminas/orina , Femenino , Humanos , Masculino , Persona de Mediana Edad , Feocromocitoma/diagnóstico por imagen , Cintigrafía , Estudios RetrospectivosRESUMEN
Selective venous blood sampling was performed in 89 patients with hypertension (14 pheochromocytoma, 10 Conn's syndrome, 8 Cushing's disease, 57 essential hypertension). We looked for diagnostic criteria and the valuability of blood sampling from the adrenal veins in such diseases. Defining a norepinephrine concentration of more than 8,000 ng/l as pathological, we had an accuracy of 94.6%. Defining an aldosterone concentration of more than 1,400 pg/ml as pathological, we had an accuracy of 97.4%. In Cushing's disease this method was not very helpful due to overlapping results.
Asunto(s)
Enfermedades de las Glándulas Suprarrenales/sangre , Hipertensión/sangre , Neoplasias de las Glándulas Suprarrenales/sangre , Adulto , Aldosterona/sangre , Síndrome de Cushing/sangre , Epinefrina/sangre , Femenino , Humanos , Hidrocortisona/sangre , Hiperaldosteronismo/sangre , Masculino , Persona de Mediana Edad , Norepinefrina/sangre , Feocromocitoma/sangreRESUMEN
We studied the insulin requirements of seven insulin-dependent diabetics applying a glucose controlled insulin infusion system. The data were transformed into individually programmed and rectangular profiles. The MAGE, a measure of blood sugar fluctuations, was significantly lower when individually programmed step profiles were used (P less than 0.005) than it was when rectangular profiles were applied: 57.7 +/- 24.8 mg/dl vs 89.0 +/- 42.9 mg/dl. The average of measured blood glucose levels was significantly lower in individually programmed infusion profiles (P less than 0.025). The combination of individually programmed profiles and preprandial insulin bolus significantly reduced the postprandial blood glucose level and increase (P less than 0.001). Our investigations suggest that individually programmed insulin infusion profiles are able to smooth blood glucose fluctuations. When combined with an initial insulin bolus they may lead to a reduced insulin consumption after meals.
Asunto(s)
Computadores , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Sistemas de Infusión de Insulina , Adulto , Glucemia/análisis , Diabetes Mellitus Tipo 1/sangre , Femenino , Humanos , MasculinoRESUMEN
Epinephrine, norepinephrine, ACTH and cortisol plasma levels as well as heart rate and blood pressure were studied in 32 patients undergoing ophthalmic surgery. Epinephrine levels rose significantly during nitrous oxide anesthesia and also during enflurane-nitrous oxide anesthesia, whereas they fell slightly during halothane-nitrous oxide anesthesia. Norepinephrine levels remained unchanged. ACTH and cortisol levels increased during all three types of anesthesia. During nitrous oxide and enflurane-nitrous oxide anesthesia, heart rate and blood pressure were elevated, halothane nitrous oxide anesthesia was associated with an increased heart rate but not with increased blood pressure.
Asunto(s)
Corteza Suprarrenal/fisiopatología , Médula Suprarrenal/fisiopatología , Anestesia por Inhalación , Hemodinámica , Sistema Nervioso Simpático/fisiopatología , Adolescente , Hormona Adrenocorticotrópica/sangre , Adulto , Anciano , Presión Sanguínea , Catecolaminas/sangre , Enflurano , Femenino , Halotano , Frecuencia Cardíaca , Humanos , Hidrocortisona/sangre , Masculino , Persona de Mediana Edad , Óxido Nitroso , Procedimientos Quirúrgicos OftalmológicosRESUMEN
Fifteen patients with a total of 16 islet-cell tumors 7-20 mm in diameter (average, 12 mm) were examined preoperatively by computed tomography (CT) and ultrasound. Seven out of 16 tumors were detected by CT and 9 out of 15 by ultrasound. Marked contrast enhancement was seen on dynamic CT scans following a bolus injection, while a circumscribed, hypoechoic mass was seen on ultrasound. Tumors of the tail of the pancreas and those outside the pancreas were difficult to detect. Ultrasound is recommended as the initial step for locating islet-cell tumors, followed by CT; angiography and transhepatic venous sampling should be restricted to tumors which are not detectable by other methods. Intraoperative ultrasound was successful in 3 patients and may facilitate the operative search.