RESUMO
This comprehensive review explores the existing literature on the effects of radiotherapy on testicular function, focusing mainly on spermatogenic effects, but also with a brief report on endocrine abnormalities. Data from animal experiments as well as results on humans either from clinical studies or from accidental radiation exposure are included to demonstrate a complete perspective on the level of vulnerability of the testes and their various cellular components to irradiation. Even relatively low doses of radiation, produced either from direct testicular irradiation or more commonly from scattered doses, may often lead to detrimental effects on sperm count and quality. Leydig cells are more radioresistant; however, they can still be influenced by the doses used in clinical practice. The potential resultant fertility complications of cancer radiotherapy should be always discussed with the patient before treatment initiation, and all available and appropriate fertility preservation measures should be taken to ensure the future reproductive potential of the patient. The topic of potential hereditary effects of germ cell irradiation remains a controversial field with ethical implications, requiring future research.
RESUMO
INTRODUCTION: Late-onset hypogonadism is the clinical entity characterised by low testosterone concentrations associated with clinical symptoms in the absence of organic disease in ageing men. It has been associated with metabolic syndrome, reduced bone mineral density, and increased cardiovascular morbidity and mortality risk. Although testosterone replacement therapy (TRT) reverses most of these conditions in young hypogonadal men, the risk/benefit ratio of TRT in older men is debatable. AIM: To update the 2015 EMAS statement on TRT in older men with new research on late-onset hypogonadism and TRT. MATERIALS AND METHODS: Literature review and consensus of expert opinion. SUMMARY RECOMMENDATIONS: TRT should be offered only to symptomatic older men with confirmed low testosterone concentrations after explaining the uncertainties regarding the long-term safety of this treatment. TRT may be offered to men with severe hypogonadism and erectile dysfunction to improve sexual desire, erectile, and orgasmic function. It should also be considered in hypogonadal men with severe insulin resistance or pre-diabetes mellitus. TRT may also be considered, in combination with proven treatment strategies, for osteoporosis, or for selected patients with persistent mild depressive symptoms and/or low self-perceived quality of life, combined with standard medical care for each condition. TRT is contraindicated in hypogonadal men actively seeking fertility treatment. Due to a lack of data, TRT should not be routinely used in older men to improve exercise capacity/physical function, improve cognitive function, or prevent cognitive decline. TRT must be avoided in older, frail men with known breast cancer or untreated prostate cancer and all men who have had myocardial infarction or stroke within the last four months, and those with severe or decompensated heart failure. The quality of evidence regarding patients with previous prostate cancer or cardiovascular disease is too low to draw definitive conclusions. Any limits on duration of use are arbitrary, and treatment should continue for as long as the man feels the benefits outweigh the risks for him, and decisions must be made on an individual basis. Withdrawal should be considered when hypogonadism is reversed after the resolution of underlying disorder. Short-acting transdermal preparations should be preferred for TRT initiation in older men, but injectable forms may be considered subsequently. Older men on TRT should be monitored at 3, 6, and 12 months after initiation and at least yearly thereafter, or earlier and more frequently if indicated. Evaluation should include assessment of the clinical response, and measurement of total testosterone, haematocrit, and prostate-specific antigen (PSA) concentrations. Bone density and/or quality should also be assessed. Obese and overweight patients should be encouraged to undergo lifestyle modifications, including exercise and weight loss, to increase endogenous testosterone.
Assuntos
Disfunção Erétil , Hipogonadismo , Neoplasias da Próstata , Masculino , Humanos , Idoso , Qualidade de Vida , Testosterona/efeitos adversos , Hipogonadismo/tratamento farmacológico , Hipogonadismo/complicações , Disfunção Erétil/tratamento farmacológico , Terapia de Reposição Hormonal/efeitos adversosRESUMO
Testicular sperm extraction (TESE) is a surgical procedure which, combined with intracytoplasmic sperm injection, constitutes the main treatment for achieving biological parenthood for patients with infertility due to non-obstructive azoospermia (NOA). Although it is effective, TESE procedures might cause structural testicular damage leading to Leydig cell dysfunction and, consequently, temporary or even permanent hypogonadism with long-term health consequences. To a lesser extent, the same complications have been reported for microdissection TESE, which is considered less invasive. The resulting hypogonadism is more profound and of longer duration in patients with Klinefelter syndrome compared with other NOA causes. Most studies on serum follicle-stimulating hormone and luteinizing hormone concentrations negatively correlate with total testosterone concentrations, which depends on the underlying histology. As hypogonadism is usually temporary, and a watchful waiting approach for about 12 months postoperative is suggested. In cases where replacement therapy with testosterone is indicated, temporary discontinuation of treatment may promote the expected recovery of testosterone secretion and revise the decision for long-term treatment.
RESUMO
BACKGROUND: Gynecomastia (GM) is the benign proliferation of glandular tissue in the male breast. It is a common condition, which may occur physiologically and shows three age peaks during a male's lifespan: infancy, puberty, and senescence. An underlying pathology may be revealed in 45%-50% of adult men with GM, such as aggravating medications, systemic diseases, obesity, endocrinopathies, or malignancy. OBJECTIVE: To discuss the role of imaging in the evaluation of GM and its contribution to therapeutic decision-making. MATERIALS/METHODS: The current literature was reviewed through PubMed, Scopus, and CENTRAL electronic databases to identify the best available evidence concerning imaging modalities in patients with GM. RESULTS: Most male breast lesions can be diagnosed on clinical grounds; however, in certain cases, when physical examination is inconclusive, imaging may be helpful. DISCUSSION: The main purpose of evaluating a patient with GM is to establish the diagnosis and differentiate true GM from pseudogynecomastia, exclude breast cancer, and detect the possible cause. GM is seen in mammography as a subareolar opacity and three mammographic patterns of GM are described: nodular, dendritic, and diffuse, corresponding to florid GM of early onset, fibrous persistent GM, and GM due to exogenous estrogen administration, respectively. In ultrasound (US), florid GM is depicted as a disk-shaped, hypoechoic area underlying the areola, whereas echogenicity of the lesions increases as fibrosis develops. Data on the use of MRI in the evaluation of the male breast and GM are still limited. Imaging findings can be classified according to the BIRADS (breast imaging reporting and data system) based on their malignant potential. CONCLUSION: Both mammography and US are sensitive and specific to diagnose GM and distinguish it from breast cancer. When clinical findings are suggestive of malignancy or imaging findings are inconclusive, a histological confirmation should be sought.
Assuntos
Neoplasias da Mama Masculina/diagnóstico por imagem , Ginecomastia/diagnóstico por imagem , Mamografia , Ultrassonografia , Adulto , Diagnóstico Diferencial , Humanos , Masculino , Sensibilidade e EspecificidadeRESUMO
BACKGROUND: The hypothalamic-pituitary-gonadal (HPG) and hypothalamic-pituitary-somatotropic (HPS) axes are strongly interconnected. Interactions between these axes are complex and poorly understood. These interactions are characterized by redundancies in reciprocal influences at each level of regulation and the combination of endocrine and paracrine effects that change during development. OBJECTIVES: To comprehensively review the crosstalk between the HPG and HPS axes and related pathological and clinical aspects during various life stages of male subjects. MATERIALS AND METHODS: A thorough search of publications available in PubMed was performed using proper keywords. RESULTS: Molecular studies confirmed the expressions of growth hormone (GH) and insulin-like growth factor-I (IGF-I) receptors on the HPG axis and reproductive organs, indicating a possible interaction between HPS and HPG axes at various levels. Insulin growth factors participate in sexual differentiation during fetal development, indicating that normal HPS axis activity is required for proper testicular development. IGF-I contributes to correct testicular position during minipuberty, determines linear growth during childhood, and promotes puberty onset and pace through gonadotropin-releasing hormone activation. IGF-I levels are high during transition age, even when linear growth is almost complete, suggesting its role in reproductive tract maturation. Patients with GH deficiency (GHD) and insensitivity (GHI) exhibit delayed puberty and impaired genital development; replacement therapy in such patients induces proper pubertal development. In adults, few studies have suggested that lower IGF-I levels are associated with impaired sperm parameters. DISCUSSION AND CONCLUSION: The role of GH-IGF-I in testicular development remains largely unexplored. However, it is important to evaluate gonadic development in children with GHD. Additionally, HPS axis function should be evaluated in children with urogenital malformation or gonadal development alterations. Correct diagnosis and prompt therapeutic intervention are needed for healthy puberty, attainment of complete gonadal development during transition age, and fertility potential in adulthood.
Assuntos
Envelhecimento/metabolismo , Hormônios Esteroides Gonadais/metabolismo , Hormônio do Crescimento Humano/metabolismo , Sistema Hipotálamo-Hipofisário/metabolismo , Fator de Crescimento Insulin-Like I/metabolismo , Testículo/metabolismo , Humanos , Masculino , Receptor Cross-Talk , Diferenciação SexualRESUMO
More than 70 years have passed since the first description of Klinefelter Syndrome (KS), the most frequent chromosome disorder causing male infertility and hypogonadism. KS is associated with increased cardiovascular (CV) mortality due to several comorbidities, including hypogonadism, as well as metabolic syndrome and type 2 diabetes, which are highly prevalent in these patients. Aside from metabolic disturbances, patients with KS suffer from both acquired and congenital CV abnormalities, cerebrovascular thromboembolic disease, subclinical atherosclerosis and endothelial dysfunction, which may all contribute to increased CV mortality. The mechanisms involved in this increased risk of CV morbidity and mortality are not entirely understood. More research is needed to better characterise the CV manifestations, elucidate the pathophysiological mechanisms and define the contribution of testosterone replacement to restoring CV health in KS patients. This review explores the complex association between KS, metabolic syndrome and CV risk in order to plan future studies and improve strategies to reduce mortality in this high-risk population.
Assuntos
Diabetes Mellitus Tipo 2 , Hipogonadismo , Síndrome de Klinefelter , Síndrome Metabólica , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/tratamento farmacológico , Humanos , Hipogonadismo/complicações , Síndrome de Klinefelter/complicações , Masculino , Síndrome Metabólica/complicações , TestosteronaRESUMO
BACKGROUND: Testicular ultrasound (US) is routinely employed in the evaluation of reproductive and sexual function. However, its use for characteristics other than testicular volume is hampered by a lack of information on the prognostic value of its findings, which to date have only been incorporated in a score proposed by Lenz et al in 1993. OBJECTIVES: We sought to explore whether testicular US examination can predict the quality of spermatogenesis and provide information on testicular endocrine function. MATERIALS AND METHODS: We retrospectively reviewed 6210 testicular US examinations, finally selecting examinations from 2230 unique men. The following variables were considered: bitesticular volume and testicular asymmetry, parenchymal echotexture, echogenicity and presence of microlithiasis, solid lesions and varicocoele. Concurrent fasting hormonal data were available for 1160 men, while 979 had a semen sample available from the same day as the US examination. RESULTS: We derived a new US score, termed TU score, that can predict both impaired spermatogenesis (AUC 0.73, sensitivity 72%, specificity 61%, P < .001) and hypogonadism (AUC 0.71, sensitivity 71%, specificity 53%, P < .001) more accurately than the Lenz's score. In a multivariate analysis, a reduced sperm composite index (defined as total spermatozoa × total motility × normal forms) was independently predicted by bitesticular volume and by inhomogeneous echotexture, while hypogonadism was independently predicted also by reduced echogenicity and presence of microlithiasis. DISCUSSION AND CONCLUSIONS: We describe the testicular US characteristics that are independently associated with impaired spermatogenesis and hypogonadism and propose the TU score as a simple screening method for use in subjects referred for testicular US.
Assuntos
Testículo/diagnóstico por imagem , Testículo/fisiologia , Ultrassonografia , Adulto , Hormônios Esteroides Gonadais/sangue , Humanos , Masculino , Estudos Retrospectivos , Análise do Sêmen , EspermatogêneseRESUMO
Measurement of serum testosterone (T) level is of utmost importance for the evaluation of hypogonadism in men and androgen excess in women. Despite the advances in steroid hormone assessment, substantial variability exists regarding measurement of T concentrations. Several factors affect T measurement in men, including circadian rhythms, intra-individual daily variability and transient stressors, while T concentrations in women vary mainly according to the phase of the menstrual cycle. Most of the available immunoassays lack the required accuracy when dealing with T concentrations at the lower end of the normal range for men and across the entire range for females. Consequently, there is no universally accepted lower T threshold for healthy adult men and most immunoassays fail to detect states of mild androgen excess in women. Mass spectrometry is considered the gold-standard method for T measurement; however, due to its complexity and cost, it has not been widely adopted. To increase accuracy, T in men should be measured with a fasting morning sample and repeated if the level is found to be low; in women, measurement must be performed at the follicular phase of the cycle. In both cases, borderline results may be clarified by the assessment of free testosterone (fT). Since most fT assays are unreliable, calculated surrogates should be used instead. Collaborative efforts have been undertaken, with rigorous internal and external quality controls and the establishment of reference methods, to harmonise the commercial assays.
Assuntos
Hipogonadismo/sangue , Testosterona/sangue , Adulto , Bioensaio , Colesterol/análise , Feminino , Fase Folicular/sangue , Humanos , Imunoensaio , Masculino , Espectrometria de Massas , Ciclo Menstrual , Valores de Referência , Reprodutibilidade dos Testes , Fatores Sexuais , Adulto JovemRESUMO
Klinefelter syndrome (KS) is the most frequent chromosome disorder in males (1:650 newborn males), defined by 47,XXY karyotype. The classical phenotype is that of a tall male with relatively long legs, small, firm testes and gynecomastia. Azoospermia and infertility are almost inevitably present, but may be overcome by TESE and ICSI. Nevertheless, a broad spectrum of phenotypes has been described and more than 70% of the actually existing KS men may remain undiagnosed throughout their lifespan. Accordingly, hypogonadism is usually not evident until early adulthood and progresses with ageing. KS patients present a series of comorbidities that increase morbidity and mortality by 40%. Such disturbances are the impaired metabolic profile (obesity, dyslipidemia, insulin resistance) and a tendency to thrombosis, which all favor cardiovascular disease. They also present susceptibility for specific neoplasias (breast cancer, extragonadal germ cell tumors), autoimmune diseases as well as osteoporosis and bone fractures. Moreover, KS has been associated with verbal processing and attention deficits as well as social skill impairments, leading KS individuals to academic and professional achievements inferior to those of their peers of comparable socio-economic status. Nevertheless, the majority fall within the average range regarding their intellectual abilities and adaptive functioning. Testosterone replacement therapy (TRT) is the mainstay of treatment in hypogonadal KS patients; however, randomized trials are needed to determine optimal therapeutic regimens and follow-up schedules.
Assuntos
Hipogonadismo/etiologia , Síndrome de Klinefelter/complicações , Síndrome de Klinefelter/epidemiologia , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/etiologia , Comorbidade , Humanos , Hipogonadismo/diagnóstico , Hipogonadismo/epidemiologia , Recém-Nascido , Resistência à Insulina/fisiologia , Síndrome de Klinefelter/diagnóstico , Masculino , Neoplasias/epidemiologia , Neoplasias/etiologia , Osteoporose/epidemiologia , Osteoporose/etiologia , FenótipoRESUMO
OBJECTIVE: The expression of somatostatin receptors (SSTRs) and dopamine receptor 2 (DR2) in neuroendocrine tumors is of clinical importance as somatostatin analogues and dopamine agonists can be used for their localization and/or treatment. The objective of this study is to examine the expression of the five SSTR subtypes and DR2 in lung carcinoids (LCs). METHODS: We conducted a retrospective study of 119 LCs from 106 patients [typical carcinoids (TCs): n = 100, and atypical carcinoids (ACs): n = 19]. The expression of all five SSTR subtypes and DR2 was evaluated immunohistochemically and correlated to clinicopathological data. In a subgroup of cases, receptor expression was further analyzed using semiquantitative RT-PCR. RESULTS: SSTR2A was the SSTR subtype most frequently expressed immunohistochemically (72%), followed by SSTR1 (63%), SSTR5 (40%), and SSTR3 (20%), whereas SSTR4 was negative. DR2 was expressed in 74% and co-expressed with SSTR1 in 56%, with SSTR2A in 59%, with SSTR3 in 19%, and with SSTR5 in 37% of the tumors. Receptor expression was not related to the histological subtype, tumor aggressiveness (disease extent/grading) or functionality; however, DR2 was expressed more frequently in ACs than TCs (95 vs. 70%, p = 0.017). In a subset of patients, RT-PCR findings highly suggested that the expression of SSTR2A, SSTR3, DR2, and to a lesser extent that of SSTR1 and SSTR5 is the outcome of increased gene transcription. CONCLUSIONS: The high and variable immunohistochemical expression of the majority of SSTRs along with their co-expression with DR2 in LCs provides a rationale for their possible treatment with agents that target these receptors.
Assuntos
Tumor Carcinoide/metabolismo , Neoplasias Pulmonares/metabolismo , Receptores de Dopamina D2/metabolismo , Receptores de Somatostatina/metabolismo , Tumor Carcinoide/genética , Tumor Carcinoide/patologia , Feminino , Humanos , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patologia , Masculino , Pessoa de Meia-Idade , Proteínas de Neoplasias/genética , Proteínas de Neoplasias/metabolismo , Receptores de Dopamina D2/genética , Receptores de Somatostatina/genética , Estudos RetrospectivosRESUMO
Despite the variety of available female contraceptive methods, many pregnancies (~50%) are still undesired. Many men (>60%) want to participate equally with their partner in family planning; however, male contraceptive methods (MCMs) account for only 14% of those used worldwide and no pharmaceutical MCM is available so far. The only two MCMs currently available are condoms, which despite protecting against sexually transmitted diseases have high failure rates (~19%), and vasectomy, which though very efficient (99%) is poorly reversible (<50%). Among MCMs under investigation, male hormonal contraceptives (MHCs) are those that have come closest to commercialization. The action of MHCs relies on the disruption of spermatogenesis that exogenous androgen administration evokes by suppressing the hypophyseal-gonadal axis. Various regimens of androgens as monotherapy or in combination with progestins have been tested in clinical trials achieving a Pearl Index <1.0 (equal to that of the female oral contraceptive pill); however, concerns regarding the variable response rates observed (non-responders: 5-20%), the impracticality of parenteral administration and long-term prostate-associated or cardiovascular morbidity have deflected the interest of the pharmaceutical industry from further research. Non-hormonal contraception methods may be, at least theoretically, more specific by selectively disrupting spermatogenesis and sperm transport or fertilizing ability. Nevertheless, only a few have been tested in clinical trials (Reversible Inhibition of Sperm Under Guidance, RISUG, and Intra Vas Plugs); most of them are still in pre-clinical development or have been abandoned due to toxicity (gossypol). Consequently, until a reliable, safe and practical MCM is developed, women will continue to bear most of the contraception burden.
Assuntos
Androgênios/uso terapêutico , Antiespermatogênicos/uso terapêutico , Anticoncepção/métodos , Sistema Hipotálamo-Hipofisário/efeitos dos fármacos , Espermatogênese/efeitos dos fármacos , Testículo/efeitos dos fármacos , Androgênios/efeitos adversos , Antiespermatogênicos/efeitos adversos , Preservativos , Anticoncepção/efeitos adversos , Combinação de Medicamentos , Feminino , Humanos , Sistema Hipotálamo-Hipofisário/metabolismo , Masculino , Gravidez , Testículo/metabolismo , VasectomiaRESUMO
OBJECTIVE: The widespread application of abdominal computerized tomography (CT) imaging has revealed that 0.98-4.0% of individuals harbour adrenal lesions (incidentalomas). There is, however, paucity of information regarding the prevalence of adrenal lesions in patients with gastroenteropancreatic neuroendocrine tumours (GEP-NETS). Purpose of this study was to estimate the prevalence of adrenal lesions in patients with GEP-NETS and identify their radiological features and clinical significance. DESIGN: The prevalence of adrenal lesions was estimated retrospectively in 438 patients with GEP-NETS who underwent abdominal imaging. Secretory status and changes in size were documented during subsequent follow-up. MEN-1 patients and ectopic ACTH-secreting tumours were excluded. RESULTS: Adrenal lesions were detected in 32 (8.4%) of 383 patients included. The majority (22 patients - 69%) were located at the left adrenal gland and the mean size was 23.6 mm. In two patients, one with a well and another with a poorly differentiated tumour, clinicopathological features suggested adrenal metastases. During a mean follow-up period of 69.5 months, no subsequent growth of any adrenal lesion was observed. Endocrine evaluation documented subclinical glucocorticoid hypersecretion in 4 cases (14%). The presence of adrenal lesions did not correlate to distant metastases, however, they were observed more frequently in patients with G3 tumours. CONCLUSION: The prevalence of adrenal lesions in patients with GEP-NETs was found to be higher than the general population and mostly represent benign adrenal adenomas (except patients with G3 tumours). Nevertheless, individualized assessment of imaging characteristics should be still considered.
Assuntos
Neoplasias das Glândulas Suprarrenais/epidemiologia , Neoplasias Gastrointestinais/epidemiologia , Tumores Neuroendócrinos/epidemiologia , Neoplasias Pancreáticas/epidemiologia , Adolescente , Neoplasias das Glândulas Suprarrenais/patologia , Adulto , Idoso , Feminino , Neoplasias Gastrointestinais/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Metástase Neoplásica , Tumores Neuroendócrinos/patologia , Neoplasias Pancreáticas/patologia , Prevalência , Estudos RetrospectivosAssuntos
Antineoplásicos/uso terapêutico , Cladribina/uso terapêutico , Histiocitose de Células de Langerhans/tratamento farmacológico , Adulto , Idoso , Antineoplásicos/administração & dosagem , Antineoplásicos/efeitos adversos , Cladribina/administração & dosagem , Cladribina/efeitos adversos , Feminino , Histiocitose de Células de Langerhans/diagnóstico por imagem , Humanos , Pulmão/diagnóstico por imagem , Pulmão/patologia , Masculino , Pessoa de Meia-Idade , Radiografia , Crânio/diagnóstico por imagem , Crânio/patologia , Adulto JovemAssuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Tumores Neuroendócrinos/tratamento farmacológico , Idoso , Inibidores da Angiogênese/administração & dosagem , Anticorpos Monoclonais Humanizados/administração & dosagem , Antineoplásicos Alquilantes/administração & dosagem , Antineoplásicos Hormonais/administração & dosagem , Bevacizumab , Dacarbazina/administração & dosagem , Dacarbazina/análogos & derivados , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Octreotida/administração & dosagem , TemozolomidaRESUMO
CONTEXT: Langerhans cell histiocytosis (LCH) is a rare disease of unknown etiology with a strong evidence of immunological dysfunction secondary to cytokine dysregulation. OBJECTIVE: This study aimed to evaluate serum receptor activator of nuclear factor κB ligand (RANKL), osteoprotegerin (OPG), and Dickkopf-1 (Dkk-1) levels in adult patients with LCH at various stages of the disease. DESIGN: This was a cross-sectional study in an adult LCH cohort followed for 12.2 ± 2.1 yr. SETTING: The study was conducted in an outpatient clinic. SUBJECTS: Twenty-five adult patients with a definitive LCH diagnosis and 50 matched controls participated in the study. INTERVENTIONS: Early morning, fasting, venous sampling was conducted in all subjects. MAIN OUTCOME MEASURE: We compared RANKL, OPG, and Dkk-1 serum levels between patients and controls, as well as their association with disease parameters. RESULTS: Serum OPG levels were significantly higher (3.0 ± 0.2 vs. 1.7 ± 0.1 pmol/liter; P < 0.001), whereas RANKL/OPG ratio was significantly lower (0.201 ± 0.041 vs. 0.471 ± 0.072; P = 0.02) in LCH patients compared to controls. Both higher OPG (adjusted odds ratio, 3.431; 95% confidence interval, 1.329-8.924) and lower RANKL (adjusted odds ratio, 0.144; 95% confidence interval, 0.034-0.605) levels were independently associated with LCH in logistic regression analysis, after adjustment for all other parameters. Dkk-1 did not differ among patients and controls. CONCLUSIONS: Adults with LCH have high serum OPG levels and low serum RANKL levels. In contrast with other disorders involving the skeleton, serum Dkk-1 levels are similar between LCH patients and controls.
Assuntos
Histiocitose de Células de Langerhans/sangue , Peptídeos e Proteínas de Sinalização Intercelular/sangue , Osteoprotegerina/sangue , Ligante RANK/sangue , Adulto , Idoso , Algoritmos , Biomarcadores/sangue , Estudos de Coortes , Estudos Transversais , Feminino , Seguimentos , Histiocitose de Células de Langerhans/fisiopatologia , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Ambulatório Hospitalar , Recidiva , Remissão Espontânea , Adulto JovemRESUMO
Biochemical markers are applied in gastroenteropancreatic neuroendocrine tumours (GEP-NETs) for diagnostic, prognostic or predictive purposes. Chromogranin A is the most important general marker and it is recommended to be measured in every patient with a suspected NET, whereas Neuron Specific Enolase is elevated mainly in poorly differentiated NETs. Pancreatic Polypeptide is used in the diagnosis of pancreatic non-functioning NETs, whereas Chorionic Gonadotrophin has an adjunctive role. In the case of functioning tumours, specific markers should be sought and monitored during follow up. Endogenous hyperinsulinemia is suggested in the presence of non-suppressible insulin and proinsulin levels during hypoglycemia, whereas high fasting or stimulated gastrin levels along with elevated gastric acid output are diagnostic for the Zollinger-Ellison syndrome. Glucagon, vasoactive intestinal polypeptide (VIP) and somatostatin are markers for glucagonoma, VIP-oma and somatostatinoma syndromes respectively. In case of ectopic paraneoplastic syndrome, the relevant hormone serves as a diagnostic and prognostic marker.
Assuntos
Biomarcadores Tumorais/análise , Glucagonoma/diagnóstico , Neoplasias Intestinais/diagnóstico , Tumores Neuroendócrinos/diagnóstico , Neoplasias Pancreáticas/diagnóstico , Somatostatinoma/diagnóstico , Neoplasias Gástricas/diagnóstico , Tumor Carcinoide/diagnóstico , Gonadotropina Coriônica/análise , Cromogranina A/análise , Humanos , Hiperinsulinismo/diagnóstico , Tumores Neuroendócrinos/patologia , Polipeptídeo Pancreático/análise , Fosfopiruvato Hidratase/análise , Prognóstico , Vipoma/diagnóstico , Síndrome de Zollinger-Ellison/diagnósticoRESUMO
We present a 22-year old male patient previously treated with radiotherapy and surgery at the age of 7 for an undefined suprachiasmatic mass. Following treatment he gradually became morbidly obese and besides subsequent panhypopituitarism he achieved his target height probably due to obesity-induced severe hyperinsulinemia. At the age of 21 Langerhans' cell histiocytosis was diagnosed at the right mandible and was surgically treated. One year later he developed a further painful osteolytic hip lesion and a single zoledronate infusion eliminated all symptoms. We highlight the importance of obtaining a histological diagnosis before initiating treatment, and the distinctive course of the disease in a patient who continued to growth besides GH deficiency.
Assuntos
Histiocitose de Células de Langerhans/fisiopatologia , Diagnóstico Tardio , Histiocitose de Células de Langerhans/diagnóstico , Humanos , Masculino , Adulto JovemRESUMO
This retrospective study evaluated bone mineral density (BMD) and bone turnover in adults with LCH. Twenty-five adult patients and 25 matched controls were evaluated with BMD measurement and indices of bone metabolism. A BMD value below the expected range for age (Z-score ≤ - 2.0) was found in 20% of patients; in particular, all postmenopausal women and men over 50-years had either osteoporosis or osteopenia. Patients with active disease had significantly lower Z-scores compared to patients with inactive disease and controls. Reduced bone turnover was found in all 14 patients treated with chemotherapy. No fractures due to osteoporosis were identified during 305.15 patient-years of follow-up.