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Deferasirox/administración & dosificación , Cirrosis Hepática/tratamiento farmacológico , Talasemia beta/tratamiento farmacológico , Adulto , Deferasirox/efectos adversos , Femenino , Estudios de Seguimiento , Grecia , Humanos , Cirrosis Hepática/sangre , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Talasemia beta/sangreRESUMEN
Secondary thrombotic microangiopathies are associated with several underlying conditions, with most of them being resolved after the treatment of background disease. Thrombotic thrombocytopenic purpura (TTP) is a rare microangiopathy presenting with anemia, thrombocytopenia, and neurological deficits, occurring most often in various autoimmune diseases due to inhibition of ADAMTS13 by autoantibodies, as well as in pregnant women with or without an autoimmune substrate. In this article, we report two newly diagnosed TTP cases, who have not been published so far. The first is a 27-year-old woman with a history of polyarticular rheumatoid factor negative juvenile idiopathic arthritis, who presented with thrombocytopenia, anemia, schistocytes on blood smear, headache, and active arthritis. Originally she was treated successfully with plasma exchange, intravenous prednisone, and vincristine, and a few months after the TTP episode, she was commenced on rituximab, resulting in remission of primary disease and no relapse of TTP. The second case refers to a 29-year-old pregnant woman complaining of dizziness and fatigue with microangiopathic hemolytic anemia. She was treated with plasma exchanges, intravenous prednisolone, and INN human normal immunoglobulin with full remission of the TTP episode. Six and half years later, she was diagnosed with multiple sclerosis and was commenced on interferon beta-1 alpha, with no recurrent episode of TTP. These cases broaden the spectrum of autoimmune disorders manifested or complicated clinically by TTP. Furthermore, biological agents such as rituximab appear to be an effective treatment option for refractory cases of TTP related to systemic rheumatic disease, indicating an alternative therapeutic solution in persistent cases of this disorder.
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BACKGROUND: Studies in patients with decompensated cirrhosis showed a correlation between serum ferritin levels and patients' prognosis. Besides, red blood cell distribution width (RDW) and mean platelet volume (MPV) have been associated with the severity of hepatic function. The aim of this study was to evaluate the prognostic impact of serum ferritin and RDW/MPV in the outcome [survival, death, or liver transplantation (LT)] of patients with stable decompensated cirrhosis. METHODS: Consecutive adult patients with stable decompensated cirrhosis admitted to our department between September 2010 and February 2016 were included. Serum ferritin, RDW and MPV were recorded in every patient. They were followed up and their outcome (alive, death, or LT) was evaluated. RESULTS: 192 consecutive patients with stable decompensated cirrhosis (142 men, age 54.2±12 years); at the end of follow up [12 (range: 1-64) months] 62 patients remained alive and 130 died or underwent LT. In multivariate analysis, serum ferritin (HR 1.001, 95%CI 1.00-1.002, P=0.005) and GFR (HR 0.96, 95%CI 0.92-0.99, P=0.035) were the only independent factors significantly associated with the outcome. Ferritin had low discriminative ability (AUC: 0.61) to the outcome yielding a sensitivity and specificity of 85.3% and 44.2%, respectively, at the best cut-off point (>55 ng/mL), while patients with ferritin >55 ng/mL (n=145) had a worse outcome compared to those with ferritin ≤55 ng/mL (n=47) (log rank P=0.001). RDW and MPV were not associated with the outcome. CONCLUSION: High serum ferritin, but not RDW/MPV, is associated with worse outcome in patients with established decompensated cirrhosis. However, further studies are needed to elucidate better this issue.
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Different studies have suggested that the expression of biomarkers related to lymphoid cell activation may provide information on the behavior of DLBCL. Most studies have concentrated on nodal or a mixture of nodal and extranodal lymphomas. The differential expression and potential clinical impact of these markers in a homogeneous group of extranodal DLBCLs are not well defined. In this study, we investigated the expression of three activation markers, Blimp1, Foxp1 and pStat3, in a cohort of 35 extranodal DLBCLs homogeneously treated with R-CHOP. Immunohistochemical stains were evaluated using an immunoreactivity score on representative paraffin sections. Blimp1 was positive in 55% (19/35), Foxp1 in 60% (21/35), and pStat3 in 69% (24/35) of our cases. We did not observe any statistical differences in the expression of these markers in GCB and non-GCB tumors or in gastrointestinal and non-gastrointestinal tumors. Blimp1 expression was negatively correlated with overall survival (OS) (p=0.001) in the whole series and in the non-GCB group (Muris algorithm) (p=0.002). Foxp1 positivity and pStat3 positivity had no impact on the outcome of the patients in the global cohort, but they were associated with a better survival in the non-GCB subgroup (p=0.033, p=0.044 respectively). Multivariate analysis showed that Blimp1 expression but not COO was an independent negative prognostic factor for OS (HR=17.5, 95%, CI=2.2-141.1, p=0.007). Our results suggest that these markers are differentially expressed and have different impacts on outcome in extranodal DLBCLs compared to nodal tumors, emphasizing the need to evaluate separately these and probably other markers in these subsets of tumors.
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Factores de Transcripción Forkhead/metabolismo , Regulación Neoplásica de la Expresión Génica , Linfoma de Células B/metabolismo , Factor 1 de Unión al Dominio 1 de Regulación Positiva/metabolismo , Proteínas Represoras/metabolismo , Factor de Transcripción STAT3/metabolismo , Adolescente , Adulto , Anciano , Algoritmos , Estudios de Cohortes , Femenino , Perfilación de la Expresión Génica , Humanos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Fosforilación , Resultado del Tratamiento , Adulto JovenRESUMEN
TACI is a membrane receptor of BAFF and APRIL, contributing to the differentiation and survival of normal B cells. Although malignant B cells are also subjected on TACI signaling, there is a remarkable intradisease and interindividual variability of TACI expression in B-cell malignancies. The aim of our study was to explore the possible role of TACI signaling in the biology of chronic lymphocytic leukemia (CLL), including its phenotypic and clinical characteristics and prognosis. Ninety-four patients and 19 healthy controls were studied. CLL patients exhibited variable TACI expression, with the majority of cases displaying low to undetectable TACI, along with low to undetectable BAFF and increased APRIL serum levels compared to healthy controls. CLL cells with high TACI expression displayed a better survival capacity in vitro, when cultured with BAFF and/or APRIL. Moreover, TACI expression was positively correlated with the presence of monoclonal gammopathy and inversely with CD11c expression. Therefore, our study provides further evidence for the contribution of BAFF/APRIL signaling to CLL biology, suggesting also that TACI detection might be useful in the selection of patients for novel targeting therapeutic approaches.
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Factor Activador de Células B/sangre , Leucemia Linfocítica Crónica de Células B/genética , Leucemia Linfocítica Crónica de Células B/patología , Proteína Activadora Transmembrana y Interactiva del CAML/sangre , Miembro 13 de la Superfamilia de Ligandos de Factores de Necrosis Tumoral/sangre , Adulto , Anciano , Anciano de 80 o más Años , Apoptosis/genética , Apoptosis/inmunología , Linfocitos B/citología , Linfocitos B/patología , Antígeno CD11c/biosíntesis , Diferenciación Celular/genética , Diferenciación Celular/inmunología , Femenino , Humanos , Inmunoglobulina A/sangre , Inmunoglobulina G/sangre , Inmunoglobulina M/sangre , Masculino , Persona de Mediana Edad , Paraproteinemias/genética , ARN Mensajero/biosíntesis , Transducción de Señal/genética , Transducción de Señal/inmunología , Proteína Activadora Transmembrana y Interactiva del CAML/biosíntesis , Proteína Activadora Transmembrana y Interactiva del CAML/genéticaAsunto(s)
Peritonitis Tuberculosa/diagnóstico , Dolor Abdominal/etiología , Adulto , Antituberculosos/uso terapéutico , Líquido Ascítico , Biopsia , Diagnóstico Diferencial , Fondo de Saco Recto-Uterino/patología , Quimioterapia Combinada , Europa Oriental/etnología , Femenino , Grecia , Ginecología , Humanos , Laparoscopía , Peritoneo/patología , Peritonitis Tuberculosa/tratamiento farmacológico , Peritonitis Tuberculosa/patología , Peritonitis Tuberculosa/fisiopatología , Resultado del Tratamiento , Adulto JovenRESUMEN
Tyrosine-kinase inhibitors are very effective in patients with CML, but in most cases the disease relapses after their discontinuation. As a result, novel approaches should be considered, such as anti-survivin treatment or anti-survivin-based immunotherapy. To gain insight into the roles of survivin isoform expression and specific CD8(+) T cells in CML, we investigated 51 patients at different stages, both at diagnosis and during treatment. We demonstrated that (i) patients at advanced-stage displayed an increased expression of the standard-survivin form along with a significant decrease of survivin-2B and -ΔEx3 levels, (ii) patients in chronic phase with higher expression of the standard-survivin exhibited a 3.5-fold increased probability not to achieve an optimal response to imatinib (p=0.048), (iii) responders displayed a significant up-regulation of all survivin isoforms in bone marrow, and (iv) anti-survivin CD8(+) T cells were undetectable both at diagnosis and during treatment. Accordingly, our results question the validity of immunotherapeutic approaches targeting survivin in CML.
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Progresión de la Enfermedad , Resistencia a Antineoplásicos/fisiología , Proteínas Inhibidoras de la Apoptosis/metabolismo , Leucemia Mielógena Crónica BCR-ABL Positiva/tratamiento farmacológico , Piperazinas/uso terapéutico , Pirimidinas/uso terapéutico , Linfocitos T Citotóxicos/inmunología , Adulto , Anciano , Antineoplásicos/uso terapéutico , Benzamidas , Células Sanguíneas/metabolismo , Células de la Médula Ósea/inmunología , Células de la Médula Ósea/metabolismo , Epítopos de Linfocito T/inmunología , Femenino , Proteínas de Fusión bcr-abl/genética , Expresión Génica/genética , Humanos , Mesilato de Imatinib , Proteínas Inhibidoras de la Apoptosis/genética , Proteínas Inhibidoras de la Apoptosis/inmunología , Leucemia Mielógena Crónica BCR-ABL Positiva/diagnóstico , Leucemia Mielógena Crónica BCR-ABL Positiva/inmunología , Leucemia Mielógena Crónica BCR-ABL Positiva/metabolismo , Leucocitos Mononucleares/inmunología , Masculino , Persona de Mediana Edad , Fragmentos de Péptidos/inmunología , Isoformas de Proteínas/genética , Isoformas de Proteínas/inmunología , Isoformas de Proteínas/metabolismo , Survivin , Resultado del Tratamiento , Adulto JovenRESUMEN
BACKGROUND/AIMS/METHODS: To determine the frequency of Helicobacter pylori infection (Hp-I) in 73 patients with myelodysplastic syndromes (MDS) and 40 controls, serologic analyses of Hp and ¹³C-urease breath tests (INFAI) were performed. Gastric mucosal biopsy specimens were obtained to determine the presence of Hp-I using a rapid urease test, i.e. the Campylobacter-like organism (CLO) test, and cresyl violet staining. Peripheral blood (PB) flow cytometry for CD3, CD4, CD8, CD14, CD19 and CD34 was conducted in 35 patients and in controls. RESULTS: Hp-I was detected by: (a) serology in 75.34% of patients (p = 0.000), (b) INFAI in 57.69% of patients, (c) CLO in 60.71% of patients and (d) histological confirmation in 80.36% of patients (p = 0.001). No correlation between Hp-I and CD3, CD4, CD8, CD14, CD19 expression, leukemic transformation or death was observed. However, in 20 cases, significant variation in the PB lymphocytic proportion possibly attributable to Hp-I was ascertained, in contrast to the expected MDS ratio. CONCLUSION: Although there is no evidence for a causal relationship between Hp-I and MDS, the increased prevalence of Hp-I among the MDS patients is an interesting finding that deserves further investigation as it may indicate a common factor causing susceptibilities to both MDS and Hp-I or that Hp might influence the pathophysiology of MDS.
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Infecciones por Helicobacter/complicaciones , Helicobacter pylori , Síndromes Mielodisplásicos/complicaciones , Anciano , Antígenos CD/sangre , Estudios de Casos y Controles , Causalidad , Estudios de Cohortes , Femenino , Grecia/epidemiología , Infecciones por Helicobacter/diagnóstico , Infecciones por Helicobacter/epidemiología , Infecciones por Helicobacter/inmunología , Humanos , Leucemia Mieloide Aguda/sangre , Leucemia Mieloide Aguda/complicaciones , Leucemia Mieloide Aguda/inmunología , Linfocitos/inmunología , Masculino , Persona de Mediana Edad , Síndromes Mielodisplásicos/sangre , Síndromes Mielodisplásicos/inmunologíaRESUMEN
BACKGROUND: The primary aim of this study was to evaluate a combined therapeutic intervention, including the dual endothelin receptor antagonist bosentan, in patients with carcinoid heart disease (CaHD). The efficacy of the treatment protocol was investigated using serological, echocardiographic, and clinical markers. PATIENTS AND METHODS: Since 2003, 40 patients with neuroendocrine tumours were identified; 14 had echocardiographic findings consistent with CaHD. Six of the 14 patients with CaHD and a New York Heart Association (NYHA) functional class >or= III received bosentan and were eligible for inclusion in this study. RESULTS: N-terminal pro-brain natriuretic peptide (NT-pro-BNP) had decreased 6 months after treatment with bosentan (median: 646 pg/ml vs. 400.5 pg/ml; p = 0.02); the right ventricular systolic pressure had decreased after 3 and 6 months (median: 69 mmHg vs. 61 mmHg, p = 0.02; median: 69 mmHg vs. 48.5 mmHg, p = 0.02); the 6-minute walk distance (6MWD) had significantly improved after 3 and 6 months of treatment (median: 293.5 vs. 406.5 m; p = 0.02; median: 293.5 vs. 578.5 m; p = 0.02). The NYHA functional class improved in 5/6 patients receiving bosentan. CONCLUSIONS: Combined treatment with bosentan is effective in patients with CaHD, based on functional class, 6MWD, and NT-pro-BNP. Further clarification of the CaHD fibrosis pathogenesis is needed to facilitate development of targeted antifibrotic therapeutic agents.
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Antihipertensivos/uso terapéutico , Cardiopatía Carcinoide/tratamiento farmacológico , Antagonistas de los Receptores de Endotelina , Neoplasias Gastrointestinales/tratamiento farmacológico , Neoplasias Pulmonares/tratamiento farmacológico , Neoplasias Ováricas/tratamiento farmacológico , Sulfonamidas/uso terapéutico , Anciano , Antihipertensivos/efectos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Bosentán , Cardiopatía Carcinoide/sangre , Cardiopatía Carcinoide/diagnóstico , Terapia Combinada , Ecocardiografía Doppler , Prueba de Esfuerzo/efectos de los fármacos , Femenino , Estudios de Seguimiento , Neoplasias Gastrointestinales/patología , Humanos , Neoplasias Pulmonares/patología , Masculino , Persona de Mediana Edad , Péptido Natriurético Encefálico/sangre , Neoplasias Ováricas/patología , Fragmentos de Péptidos/sangre , Sulfonamidas/efectos adversosRESUMEN
BACKGROUND: B-type natriuretic peptide (BNP) and N-terminal-pro-BNP (NT-pro-BNP) are important diagnostic tools for patients with suspected cardiac disorders. The aim of this study was to evaluate the predictive value of plasma NT-pro-BNP in identifying cardiac metastases in patients with non-small cell lung cancer (NSCLC) and dyspnoea. PATIENTS AND METHODS: A total of 120 patients, median age 62 years (range 46-83), with NSCLC and dyspnoea were studied. Patients with heart failure or documented coronary artery disease were excluded. Echocardiographic imaging was used to detect cardiac metastases and estimate global left ventricular function. Ejection fraction and E/A ratio from transmitral inflow pattern were calculated. Plasma NT-pro-BNP was also measured. 72 patients (72/120, 60%) with cardiac metastases were identified. RESULTS: NT-pro-BNP was significantly higher in patients with metastases (1347.5 +/- 1004.30 pg/ml vs. 159.02 +/- 93.29 pg/ml; p = 0.001). No differences between groups, regarding s-creatinine (p = 0.45), haemoglobin (p = 0.71), left ventricular hypertrophy (p = 0.91), and diastolic dysfunction (p = 0.79), were observed. CONCLUSION: Plasma NT-pro-BNP is remarkably elevated in patients with NSCLC and myocardial/pericardial infiltrations and may be used as a sensitive marker for detecting cardiac metastases in these patients.
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Biomarcadores de Tumor/sangre , Carcinoma de Pulmón de Células no Pequeñas/diagnóstico , Carcinoma de Pulmón de Células no Pequeñas/secundario , Neoplasias Cardíacas/diagnóstico , Neoplasias Cardíacas/secundario , Péptido Natriurético Encefálico/sangre , Fragmentos de Péptidos/sangre , Anciano , Anciano de 80 o más Años , Carcinoma de Pulmón de Células no Pequeñas/sangre , Femenino , Neoplasias Cardíacas/sangre , Humanos , Neoplasias Pulmonares/sangre , Neoplasias Pulmonares/diagnóstico , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Sensibilidad y EspecificidadRESUMEN
RASSF1A, a key cell cycle related gene, is expressed in all hematopoietic cells, it is implicated in ras signaling pathway and its promoter hypermethylation is observed in a wide variety of solid tumors. Till now, RASSF1A methylation status has not been investigated in patients with chronic myeloid leukemia (CML). In this study, we analyzed 41 patients carrying the BCR-ABL rearrangement, in different stages of the disease. No patient displayed RASSF1A promoter methylation, although the K562 erythroleukemia cell line, bearing the BCR-ABL rearrangement, was found methylated. Thus, our findings indicate that RASSF1A methylation does not appear to represent a critical step in the pathogenesis and/or the progression of CML.
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Metilación de ADN , ADN de Neoplasias/metabolismo , Regulación Leucémica de la Expresión Génica , Leucemia Mielógena Crónica BCR-ABL Positiva/metabolismo , Regiones Promotoras Genéticas , Proteínas Supresoras de Tumor/biosíntesis , ADN de Neoplasias/genética , Femenino , Genes abl/genética , Células Madre Hematopoyéticas/metabolismo , Humanos , Células K562 , Leucemia Mielógena Crónica BCR-ABL Positiva/genética , Masculino , Translocación Genética/genética , Proteínas Supresoras de Tumor/genéticaRESUMEN
BACKGROUND: Cardiac tamponade (CT) as the primary clinical manifestation of lymphomas is extremely rare. Angioimmunoblastic T-cell lymphoma (AILT) is characterised by systemic disease usually presenting with generalised peripheral lymphadenopathy, hepatosplenomegaly, and bone marrow infiltration. CASE REPORT: We report on a 59-year-old male patient with CT as initial clinical manifestation of AILT. Coexistence with malignant pleural mesothelioma was additionally revealed. Cytologic examination of pericardial fluid presented diffuse lymphoid cells and sporadic malignant mesothelial cells. AILT diagnosis was confirmed by thoracoscopic mediastinal lymph node and bone marrow biopsy. Despite the presence of pleural effusion, the diagnosis of mesothelioma was initially established by cytologic ex-amination of pericardial fluid, due to the patient's critical cardiac condition requiring prompt subxiphoid pericardiocentesis. CONCLUSION: CT as primary clinical manifestation of AILT is very rare. This case reflects the differences in the underlying biology of AILT and consequently the vast spectrum of its clinical presentations. Coexistence of AILT with malignant pleural mesothelioma is also extremely rare.
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Taponamiento Cardíaco/diagnóstico , Taponamiento Cardíaco/etiología , Linfadenopatía Inmunoblástica/complicaciones , Linfadenopatía Inmunoblástica/diagnóstico , Linfoma/complicaciones , Linfoma/diagnóstico , Mesotelioma/complicaciones , Mesotelioma/diagnóstico , Humanos , Masculino , Persona de Mediana EdadAsunto(s)
Infecciones por Helicobacter/complicaciones , Leucemia Mieloide Aguda/prevención & control , Síndromes Mielodisplásicos/complicaciones , Infecciones por Helicobacter/inmunología , Helicobacter pylori , Humanos , Leucemia Mieloide Aguda/etiología , Leucemia Mieloide Aguda/inmunología , Modelos Biológicos , Síndromes Mielodisplásicos/inmunología , Factor de Necrosis Tumoral alfa/sangreRESUMEN
Recently, the acquired mutation JAK2-V617F has been described in the majority of patients with myeloproliferative disorders (MPDs). In this study we evaluated its clinical and laboratory correlates in 166 patients with MPDs. The mutation was detected by allele-specific PCR in 119 patients: 81.4% (35/43) of those with polycythemia vera, 69.1% (77/111) of those with essential thrombocythemia and 58.1% (7/12) of those with idiopathic myelofibrosis. The patients carrying the mutation were older (p=0.02) and displayed higher levels of Ht (p<0.01) and Hb (<0.01) and lower erythropoietin levels (p<0.01). Moreover, mutation-positive patients displayed a higher probability of having leucocytosis, splenomegaly and thrombotic events (three-fold, two-fold and two-fold, respectively) than mutation-negative patients. These correlations imply that the JAK2-V617F mutation may be useful for the classification and the management of patients with MPDs.
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Janus Quinasa 2/genética , Trastornos Mieloproliferativos/genética , Mutación Puntual/genética , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Trastornos Mieloproliferativos/diagnóstico , Trastornos Mieloproliferativos/enzimología , Reacción en Cadena de la PolimerasaRESUMEN
Langerhans cell histiocytosis (LCH) of the female genital tract is very rare. A review of the literature revealed that only 12 cases of primary vulvar LCH have previously been published. We describe an additional case of LCH in which the disease was confined to the vulva. A 64-year-old woman was admitted to our hospital with a nodular mass on her left labium minus, and complete surgical excision was performed. On histological and immunohistochemical examination, the tumor fulfilled the criteria of LCH. A metastatic workup did not reveal any evidence of disease beyond the vulva. The patient received local radiotherapy, and 22 months later she is in excellent condition without local recurrence or metastatic disease.
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Histiocitosis de Células de Langerhans/patología , Enfermedades de la Vulva/patología , Antígenos CD1/metabolismo , Biomarcadores de Tumor/metabolismo , Terapia Combinada , Femenino , Histiocitosis de Células de Langerhans/metabolismo , Histiocitosis de Células de Langerhans/terapia , Humanos , Persona de Mediana Edad , Radioterapia Adyuvante , Proteínas S100/metabolismo , Resultado del Tratamiento , Enfermedades de la Vulva/metabolismo , Enfermedades de la Vulva/terapiaRESUMEN
Non-Hodgkin's lymphoma (NHL) of the breast may be primary or secondary. Both are rare and there are no morphological criteria to make the differential diagnosis. Benign intramammary lymph nodes are often encountered, but the development of either primary or secondary lymphoma within an intramammary lymph node is extremely rare. We report the case of a 72-year-old woman who presented with a palpable mass in her right breast. A mammography showed a large intramammary lymph node from which a biopsy was taken. On morphological and immunohistochemical examination the tumor fulfilled the criteria of NHL originating in an intramammary lymph node. The patient received chemotherapy which led to the disappearance of the mass. A review of the literature revealed that this is the third reported case of primary NHL originating in an intramammary lymph node.
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Neoplasias de la Mama/patología , Ganglios Linfáticos/patología , Linfoma de Células B Grandes Difuso/patología , Linfoma no Hodgkin/patología , Anciano , Neoplasias de la Mama/diagnóstico por imagen , Neoplasias de la Mama/tratamiento farmacológico , Quimioterapia , Femenino , Humanos , Linfoma de Células B Grandes Difuso/diagnóstico por imagen , Linfoma de Células B Grandes Difuso/tratamiento farmacológico , Linfoma no Hodgkin/diagnóstico por imagen , Linfoma no Hodgkin/tratamiento farmacológico , Cuello/patología , Radiografía , RecurrenciaAsunto(s)
Factor 2 de Crecimiento de Fibroblastos/sangre , Policitemia Vera/sangre , Policitemia Vera/fisiopatología , Factor A de Crecimiento Endotelial Vascular/sangre , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neovascularización Patológica/sangre , Neovascularización Patológica/fisiopatologíaRESUMEN
beta-thalassemia (beta-thal) is characterized by disturbances of the reproductive system. The aim of the present study was: 1) to assess the hypothalamic- pituitary-gonadal axis in patients with beta-thal in relation to their phenotype and 2) to determine prognostic features of current gonadal status. We studied 135 patients (67 males and 68 females) with beta-thal through history, physical examination, spermiograms and GnRH test. These patients were divided into beta-thal major (51 males and 62 females) and beta-thal intermedia phenotypes (16 males and 6 females). Male patients with beta-thal major were subdivided into three groups a) eugonadal (35%, Tanner's stage V, normal testicular volume, normal spermiograms, normal basal and stimulated hormone values), b) patients with hypogonadotrophic hypogonadism (HH) of late onset (24%, Tanner's stage II-V, low-normal testicular volume, abnormal spermiograms, normal basal gonadotrophin values and abnormal response to GnRH test) and c) patients with HH of early onset (41%, Tanner's stage I, small testicular volume, abnormal spermiograms, abnormal basal and stimulated hormone values). Female patients with beta-thal major were subdivided into: a) eugonadal (32%, Tanner's stage V, regular menstruation, normal basal and stimulated hormone values), b) patients with hypogonadotrophic hypogonadism (HH) of late onset (34%, Tanner's stage II-V, secondary amenorrhea, subnormal basal and stimulated gonadotrophin values) and c) patients with HH of early onset (34%, Tanner's stage I, primary amenorrhea, subnormal basal and stimulated hormone values). Patients with beta-thal intermedia were subdivided into eugonadal (75% of males, 33% of females) and hypogonadal (25% of males, 67% of females). Current gonadal status could not be predicted by means of transfusion or chelation parameters. In conclusion, beta-thal patients could be eugonadal or develop early or late onset HH. trade mark-thal intermedia patients have a more favorable profile than beta-thal major individuals. Current gonadal status of beta-thal patients cannot be predicted by means of history, clinical or laboratory parameters.