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1.
Ann Endocrinol (Paris) ; 82(3-4): 151-157, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32192790

RESUMO

PTH is a metabolic active hormone primarily regulating calcium and phosphate homeostasis in a very tight and short term-manner. Parathyroid disorders in adult patients reflect a variety of different conditions related either to the parathyroid glands itself or to the effects of the secreted hormone. The clinical spectrum varies from the common disease primary hyperparathyroidism (PHPT) to the orphan conditions pseudohypoparathyroidism (Ps-HypoPT) and chronic hypoparathyroidism (HypoPT). The purpose of this review is to describe the consequences of disturbances in levels or action of PTH for cardiac function and cardiovascular risk in adult patients with these disorders. Most patients with PHPT achieve the diagnose by chance and have minor or no specific symptoms. Still, these patients with mild PHPT do possess cardiovascular (CV) morbidity, however so far not proven ameliorated by surgery in controlled trials. In severe cases, the CV risk is increased and with a potential reversibility by treatment. Patients with Ps-HypoPT have resistance to PTH action, but not necessarily total resistance in all tissues. So far, no clear CV morbidity or risk has been demonstrated, but there are several aspects of interest for further studies. Most patients with HypoPT do get their hormonal deficiency syndrome following neck surgery. These patients do experience multiple symptoms and do have an increased CV-risk before the primary surgery. Based on existing data, their CV mortality do not deviate from the expected when adjusting for the preexisting increased risk. Patients with nonsurgical (NS-) HypoPT do demonstrate increased CV-risk also associated with exposure time. Endocrine disorders with alterations in PTH function have major impact on the cardiovascular system of importance for morbidity and mortality, wherefore management of these specific diseases should be optimized currently, as new data become available, however also avoiding over-treating asymptomatic patients.


Assuntos
Doenças Cardiovasculares/etiologia , Doenças das Paratireoides/complicações , Adulto , Envelhecimento/fisiologia , Doenças Cardiovasculares/epidemiologia , Sistema Cardiovascular/fisiopatologia , Humanos , Doenças das Paratireoides/epidemiologia , Doenças das Paratireoides/fisiopatologia
2.
Surgery ; 169(1): 209-219, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32762873

RESUMO

BACKGROUND: We examined the effect of psychiatric comorbidities on perioperative surgical outcomes and the leading causes of readmissions in patients who underwent thyroid and parathyroid operations. METHOD: Patient information was retrieved from the Nationwide Readmission Database (2010-2017). Multivariate analysis was used to identify predictors for hospital readmissions. RESULTS: A total of 181,007 and 53,808 patients underwent thyroid and parathyroid operations, respectively. Of those, 8,468 (4.7%) and 6,112 (11.4%) patients were readmitted within 30 days. Psychiatric comorbidities were more frequent in readmitted cohorts after thyroidectomies (14.9% vs 10.4%; P < .001) and parathyroidectomies (16.8% vs 11.5%; P < .001), with anxiety being the most frequent cause (thyroid: 7.87%, parathyroid: 6.8%). Psychiatric comorbidities were associated with greater risk of in-hospital mortality (thyroid: odds ratio = 2.07, 95% confidence interval = 1.13-3.53; P = .015 and parathyroid: odds ratio = 1.67, 95% confidence interval = 1.04-2.70; P = .005), postoperative complications (thyroid: odds ratio = 1.528, 95% confidence interval = 1.473-1.585; P < .001 and parathyroid: odds ratio = 3.26, 95% confidence interval = 2.84-3.73; P < .001), prolonged duration of stay (thyroid: beta coefficient = 1.142, 95% confidence interval = 1.076-1.207; P < .001 and parathyroid: beta coefficient = 2.15, 95% confidence interval = 1.976-2.32; P < .001), and 30-day readmissions (thyroid: hazard ratio = 1.18, 95% confidence interval = 1.03-1.18; P = .047 and parathyroid: hazard ratio = 1.23, 95% confidence interval = 1.11-1.36; P < .001). Psychosis had the greatest risk of readmission (thyroid: hazard ratio = 1.51 and parathyroid: hazard ratio = 1.42), and dementia (odds ratio = 2.58) had the greatest risk of postoperative complications. CONCLUSION: Concomitant psychiatric conditions after thyroid and parathyroid operations were associated with increased risk of postoperative complications, prolonged hospital stays, and greater rates of readmissions.


Assuntos
Transtornos Mentais/epidemiologia , Doenças das Paratireoides/cirurgia , Paratireoidectomia/efeitos adversos , Complicações Pós-Operatórias/epidemiologia , Doenças da Glândula Tireoide/cirurgia , Tireoidectomia/efeitos adversos , Adulto , Idoso , Comorbidade , Feminino , Seguimentos , Mortalidade Hospitalar , Humanos , Tempo de Internação/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Doenças das Paratireoides/epidemiologia , Readmissão do Paciente/estatística & dados numéricos , Período Perioperatório/estatística & dados numéricos , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/terapia , Estudos Retrospectivos , Fatores de Risco , Doenças da Glândula Tireoide/epidemiologia , Estados Unidos/epidemiologia , Populações Vulneráveis/estatística & dados numéricos , Adulto Jovem
3.
Best Pract Res Clin Endocrinol Metab ; 32(6): 773-780, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30559041

RESUMO

Parathyroid disorders are not as uncommon as once believed. Both hyper- and hypoparathyroidism are more prevalent in women, but for different reasons. The female preponderance seen in primary hyperparathyroidism may be pathogenically linked, as it is more common after menopause. By contrast, higher prevalence of hypoparathyroidism in women is related to thyroid surgery, which is performed more frequently in women; thus the female to male ratio of hyper- and hypoparathyroidism is about 3:1 and 4:1 respectively. For similar reasons, the mean age of patients with hypoparathyroidism, on average, is a decade lower than that of patients with primary hyperparathyroidism. Furthermore, primary hyperparathyroidism is the third most common endocrine disorder after diabetes and thyroid disorders, but the prevalence of hypoparathyroidism is about 34 fold lower than that of primary hyperparathyroidism. Current epidemiological data is reasonable for primary hyperparathyroidism, but inadequate for hypoparathyroidism. Further concerted efforts should be undertaken to better define the distribution, determinants and disease burden of both disorders in order to prioritize practice guidelines, disease management strategies, and research agendas.


Assuntos
Doenças das Paratireoides/epidemiologia , Feminino , Humanos , Hiperparatireoidismo Primário/epidemiologia , Hipoparatireoidismo/epidemiologia , Masculino , Glândulas Paratireoides/fisiologia , Glândulas Paratireoides/fisiopatologia , Glândulas Paratireoides/cirurgia , Prevalência , Doenças da Glândula Tireoide/epidemiologia , Doenças da Glândula Tireoide/cirurgia , Tireoidectomia/efeitos adversos , Tireoidectomia/estatística & dados numéricos
4.
Best Pract Res Clin Endocrinol Metab ; 32(6): 781-790, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30665546

RESUMO

Several familial forms of primary hyperparathyroidism (PHTP) have been discovered over the past 25 years, and molecular test for their risk assessment has been widely increasing. These syndromic and non-syndromic forms have received benefits from the identification of the responsible genes whose mutations account for the genetic susceptibility to develop parathyroid tumours as also other endocrine and nonendocrine tumours. In recent years, care options have been made available to patients and families with hereditary PHPT, and the process of systematically assessing the genetic risk has been becoming increasingly important. The aim of this review is to help health providers not frequently dealing with genetic testing use, introducing general concepts with regard to genetic diagnosis issues. The role and the practical usefulness of DNA-based diagnosis in patients affected by different forms of "congenital" PHPT is described, closely looking on why, when and how genetic testing should be performed in these subjects and their relatives. Moreover, this review will provide some practical suggestions and recommendations concerning on how to deal with a suspected or known case of familial PHPT.


Assuntos
Doenças das Paratireoides/genética , Análise Mutacional de DNA/métodos , Predisposição Genética para Doença , Testes Genéticos , Humanos , Hiperparatireoidismo Primário/epidemiologia , Hiperparatireoidismo Primário/genética , Mutação , Doenças das Paratireoides/diagnóstico , Doenças das Paratireoides/epidemiologia , Neoplasias das Paratireoides/epidemiologia , Neoplasias das Paratireoides/genética
5.
Rev. argent. endocrinol. metab ; 54(3): 136-139, set. 2017. ilus
Artigo em Espanhol | LILACS | ID: biblio-957979

RESUMO

Los incidentalomas paratiroideos (IP) fueron descriptos como hallazgos intraquirúrgicos y luego en estudios ecográficos de tiroides. Escasos estudios se han realizado, por lo que su incidencia no es clara. Más aún, la presencia de una imagen hipoecogénica en topografía paratiroidea puede también ser tejido tiroideo o linfático. Se evaluaron retrospectivamente las historias clínicas de 7 años buscando los pacientes en los que se diagnosticó un IP durante una ecografía tiroidea. Se diagnosticó IP en 24 pacientes (4,0% del total). Tenían hipotiroidismo autoinmune 21 pacientes y nódulos tiroideos 3 pacientes. En 10 casos la lesión fue única y en 14 eran 2 o más. En la evolución se repitió la ecografía en 13 pacientes, hallando imágenes similares a la primera en todas. La calcemia y la PTH fueron normales en 23 pacientes, pero en una de ellas, con una imagen de 6 mm, hubo PTH levemente elevada con calcemia normal, que luego se elevó, y se diagnosticó adenoma paratiroideo. El hallazgo de IP parece cada vez más frecuente; nuestra incidencia del 4% como imágenes compatibles (sin confirmar la naturaleza paratiroidea) es más alta que las escasas publicaciones existentes sobre el tema. Es posible que muchas no presenten cambios ni ecográficos ni de laboratorio, pero otros casos, como el hallado en una de nuestras 24 pacientes, pueden ser un estadio inicial de hiperparatiroidismo primario, por lo que el seguimiento es aconsejable.


Parathyroid incidentalomas (PI) were first described as intraoperative findings and then in ultrasound thyroid scan studies. Few studies have been performed to investigate this, so their incidence is unclear. Moreover, the presence of a hypo-echogenic image in parathy- roid topography may also be thyroid or lymphatic tissue. A retrospective evaluation was performed on the seven-year clinical records of patients in whom a PI was diagnosed during a thyroid ultrasound scan. PI was diagnosed in 24 patients (4.0%). Twenty one patients had autoimmune hypothyroidism and 3 patients had thyroid nodules. In 10 cases the lesion was unique, and in 14 cases there were two or more lesions. During follow-up, ultrasound was repeated in 13 patients, and all showe findings. Serum calcium and PTH were normal in 23 patients, but in one of them, with an image of a lesion of 6 mm, PTH was slightly elevated, with normal serum calcium. Later, hypercalcaemia was detected and a parathyroid adenoma was diagnosed. The incidence of PI seems to be increasing, with our rate of 4% of compatible images (without confirming the parathyroid origin of the lesion) is higher than that reported in the few existing publications on the subject. Many patients with PI may not present with biochemical abnormalities, but as our experience shows, these lesions may represent the first stage of primary hyperparathyroidism; therefore careful follow-up is advisable.


Assuntos
Humanos , Feminino , Doenças das Paratireoides/diagnóstico , Achados Incidentais , Doenças das Paratireoides/epidemiologia , Argentina/epidemiologia
6.
JAMA Otolaryngol Head Neck Surg ; 139(11): 1175-80, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24008557

RESUMO

IMPORTANCE: With reimbursement being increasingly tied to outcome measures, minimizing unexpected health care needs in the postoperative period is essential. This article describes reasons for emergency department (ED) evaluation, rates of readmission to the hospital, and significant risk factors for readmission during the postoperative period. OBJECTIVE: To describe the subset of patients requiring ED evaluation within 30 days of thyroidectomy or parathyroidectomy and their associated risk factors. DESIGN, SETTING, AND PATIENTS: Retrospective chart review in a tertiary care center of adult patients who underwent thyroidectomy or parathyroidectomy between January 1, 2009 and October 7, 2010. Patients were identified from an institutional review board-approved database. Postoperative patients who visited the emergency department (ED) within the first 30 days following surgery were selected and compared with the postoperative patients who did not visit the ED. EXPOSURES: Thyroidectomy or parathyroidectomy. MAIN OUTCOMES AND MEASURES: Statistical analysis evaluated the association of demographic and clinical characteristics between the patients who required ER evaluation and those who did not. Clinical characteristics evaluated included type of surgery, medical comorbidities, and proton pump inhibitor (PPI) usage. Multiple logistic regression predicted the odds of an ED visit based on presence of diabetes, gastroesophageal reflux disease (GERD), or PPI use. RESULTS: Of the 570 patients identified, 64 patients required a visit to the ER a total of 75 times for issues including paresthesias (n = 28), wound complications (n = 8), and weakness (n = 6). Fifteen hospital admissions occurred for treatment of a variety of postoperative complications. A significant association was found between the presence of diabetes (P = .03), GERD (P = .04), and the current use of PPIs (P = .03). When controlling for diabetes and GERD, we found that patients taking PPIs were 1.81 times more likely to visit the ED than patients not taking PPIs (P = .04). CONCLUSIONS AND RELEVANCE: Patients taking PPIs are 1.81 times more likely to require ED evaluation than those who are not taking PPIs.


Assuntos
Serviço Hospitalar de Emergência/estatística & dados numéricos , Hospitalização/estatística & dados numéricos , Doenças das Paratireoides/cirurgia , Paratireoidectomia , Centros de Atenção Terciária/estatística & dados numéricos , Doenças da Glândula Tireoide/cirurgia , Tireoidectomia , Comorbidade , Feminino , Seguimentos , Humanos , Masculino , Michigan/epidemiologia , Pessoa de Meia-Idade , Doenças das Paratireoides/epidemiologia , Cuidados Pós-Operatórios/estatística & dados numéricos , Estudos Retrospectivos , Fatores de Risco , Doenças da Glândula Tireoide/epidemiologia
7.
Lancet Diabetes Endocrinol ; 1(4): 329-40, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24622418

RESUMO

Primary hyperparathyroidism, a disorder in which there is a tendency for hypercalcaemia caused by autonomous overproduction of parathyroid hormone, is common, especially in postmenopausal women. Although parathyroidectomy is indicated for symptomatic patients, most individuals with the disorder are asymptomatic and without classic complications, such as renal stones and osteoporosis, at diagnosis. Consensus guidelines suggest which individuals might be suitable for medical follow-up rather than parathyroidectomy, but there are no long-term randomised controlled trials to support the safety of medical surveillance, and some patients progress with time. Data from observational studies suggest that cardiovascular morbidity and mortality are increased in patients with primary hyperparathyroidism, and might be predicted by parathyroid hormone concentrations, even in individuals with asymptomatic primary hyperparathyroidism. Whether parathyroidectomy improves cardiovascular outcomes in patients with asymptomatic primary hyperparathyroidism is unproven, but data suggest that surgery decreases fracture risk and might improve neuropsychological symptoms. Studies also show that patients with normocalcaemic (subclinical) hyperparathyroidism and hypoparathyroidism have a low risk of progression to overt disease, but their long-term risks are not defined. In this Review, we explore the increasing range of asymptomatic parathyroid disorders, focusing on current evidence about their natural history and potential complications, with a particular emphasis on primary hyperparathyroidism.


Assuntos
Doenças Assintomáticas/epidemiologia , Bases de Dados Factuais/tendências , Doenças das Paratireoides/diagnóstico , Doenças das Paratireoides/epidemiologia , Animais , Doenças Assintomáticas/terapia , Humanos , Hiperparatireoidismo/diagnóstico , Hiperparatireoidismo/epidemiologia , Hiperparatireoidismo/terapia , Doenças das Paratireoides/terapia , Paratireoidectomia/tendências , Ensaios Clínicos Controlados Aleatórios como Assunto/tendências
8.
Rev Mal Respir ; 29(9): 1111-5, 2012 Nov.
Artigo em Francês | MEDLINE | ID: mdl-23200583

RESUMO

INTRODUCTION: Benign cystic mediastinal mass form a group of heterogeneous and uncommon lesions. Surgical resection is the gold standard in these conditions. We reported our institutional experience in management of these benign tumours. In this review, cardiac and ganglionary benign mass were excluded. METHODS: We retrospectively reviewed the records of 28 patients with benign cysts of the mediastinum, who are operated in our department between January 2003 and December 2009 (7years period). RESULTS: There were 13 females (46.4%) and 15 males (53.5%), with a mean age of 36.8years (range: 13-63years). Most lesions (n=22) were equally in the anterior and middle mediastinum, only six were in the posterior mediastinum. Seventeen patients (60.7%) were symptomatic, with chest pain and cough as the most common symptoms. The diagnosis of mediastinal cyst was fortuitous in 11 patients with the waning of an assessment made for another reason. Surgery was indicated in all patients in order to both diagnostic and therapeutic. Posterolateral thoracotomy incision is the most common. Complete resection of the cyst was possible only in 18 cases (64.3%), whereas in ten (35. 7%) other cases part of the cyst was left in place due to tight adhesions to vital structures. After histological study, there were: nine bronchogenic cysts (32.1%), seven hydatid cysts (25%), four cystic lymphangiomas (14.3%), three mature cystic teratomas (10.7%) and three pleuropericardial cysts, one thymic cyst and one parathyroid cyst. The postoperative course was uneventful and no recurrence has been observed until now. CONCLUSION: The benign cysts of the mediastinum is a rare entity, the hydatid etiology remains common in our context. Surgical treatment remains the treatment of choice for mediastinal cysts, when the patient is operable, to save the risk of complications or degeneration.


Assuntos
Cisto Mediastínico/epidemiologia , Adolescente , Adulto , Cisto Broncogênico/epidemiologia , Cisto Broncogênico/cirurgia , Equinococose/epidemiologia , Equinococose/etiologia , Equinococose/cirurgia , Feminino , Humanos , Linfangioma Cístico/epidemiologia , Linfangioma Cístico/cirurgia , Masculino , Cisto Mediastínico/congênito , Cisto Mediastínico/etiologia , Cisto Mediastínico/cirurgia , Doenças do Mediastino/epidemiologia , Doenças do Mediastino/etiologia , Doenças do Mediastino/cirurgia , Neoplasias do Mediastino/epidemiologia , Neoplasias do Mediastino/cirurgia , Pessoa de Meia-Idade , Marrocos/epidemiologia , Doenças das Paratireoides/epidemiologia , Doenças das Paratireoides/cirurgia , Estudos Retrospectivos , Teratoma/epidemiologia , Teratoma/cirurgia , Toracotomia , Adulto Jovem
9.
Surgery ; 150(5): 950-8, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21621238

RESUMO

BACKGROUND: Obesity is a national epidemic. Prior studies of the impact of body mass index (BMI) on surgical outcomes from cervical endocrine procedures have come from high-volume, single institutions. Our study characterizes the 30-day clinical and economic outcomes in patients with high BMI from a multi-institutional database. METHODS: Patients undergoing thyroidectomy or parathyroidectomy in the American College of Surgeons National Surgery Quality Improvement Program, 2005-2008 were categorized into 4 groups BMI based on: normal, overweight, obese, and morbidly obese. Overweight, obese, and morbidly obese patients were compared with patients with normal BMI using a χ(2) test and an analysis of variance. Multivariable linear/logistic regression models were used to adjust for preoperative risk factors. RESULTS: In all, 18,825 patients underwent thyroidectomy. Overweight, obese, and morbidly obese patients were more likely to have total thyroidectomy, substernal thyroids, general anesthesia, operations of greater duration, and an overall or wound complication (all P < .01). On a multivariable analysis, morbidly obese patients had an increased risk for urinary complications (P < .05); obese and morbidly obese patients had an increased risk for overall or wound complications (P < .01); overweight, obese, and morbidly obese patients had operations of greater duration (P < .05). In all, 8,039 patients underwent parathyroidectomy. Overweight, obese, and morbidly obese patients were more likely to have general anesthesia and operations of greater duration (all P < .01). On multivariable analysis, morbidly obese patients had operations of greater duration (P < .05) and more wound complications (P = .05). CONCLUSION: Patients with high BMI seem to require operations of greater duration and sustain more morbidity after cervical endocrine procedures than patients with normal BMI, but these differences may not be clinically significant. Thyroidectomy and parathyroidectomy can be performed safely, with appropriate surgical decision making.


Assuntos
Índice de Massa Corporal , Doenças das Paratireoides/epidemiologia , Doenças das Paratireoides/cirurgia , Paratireoidectomia/estatística & dados numéricos , Doenças da Glândula Tireoide/epidemiologia , Doenças da Glândula Tireoide/cirurgia , Tireoidectomia/estatística & dados numéricos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Comorbidade , Bases de Dados Factuais/estatística & dados numéricos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Obesidade/epidemiologia , Obesidade Mórbida/epidemiologia , Sobrepeso/epidemiologia , Complicações Pós-Operatórias/epidemiologia , Fatores de Risco , Adulto Jovem
10.
Surgery ; 148(6): 1075-80; discussion 1080-1, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21134536

RESUMO

BACKGROUND: During the last 10 years, the number of endocrine procedures performed in the United States has increased significantly. We sought to determine whether this has translated into an increase in operative volume for general surgery and otolaryngology residents. METHODS: We evaluated records from the Resident Statistic Summaries of the Residency Review Committee (RRC) for U.S. general surgery and otolaryngology residents for the years 2004-2008, specifically examining data on thyroidectomies and parathyroidectomies. RESULTS: Between 2004 and 2008, the average endocrine case volume of U.S. general surgery and otolaryngology residents increased by approximately 15%, but otolaryngology residents performed more than twice as many operations as U.S. general surgery residents. The growth in case volume was mostly from increases in the number of thyroidectomies performed by U.S. general surgery and otolaryngology residents (17.9 to 21.8, P = .007 and 46.5 to 54.4, P = .04). Overall, otolaryngology residents also performed more parathyroidectomies than their general surgery counterparts (11.6 vs 8.8, P = .007). CONCLUSION: Although there has been an increase in the number of endocrine cases performed by graduating U.S. general surgery residents, this is significantly smaller than that of otolaryngology residents. To remain competitive, general surgery residents wishing to practice endocrine surgery may need to pursue additional fellowship training.


Assuntos
Procedimentos Cirúrgicos Endócrinos/educação , Bolsas de Estudo , Cirurgia Geral/educação , Internato e Residência , Especialidades Cirúrgicas , Procedimentos Cirúrgicos Endócrinos/estatística & dados numéricos , Cirurgia Geral/estatística & dados numéricos , Humanos , Internato e Residência/estatística & dados numéricos , Otolaringologia/educação , Otolaringologia/métodos , Otolaringologia/estatística & dados numéricos , Otorrinolaringopatias/epidemiologia , Otorrinolaringopatias/cirurgia , Doenças das Paratireoides/epidemiologia , Doenças das Paratireoides/cirurgia , Paratireoidectomia/economia , Paratireoidectomia/métodos , Paratireoidectomia/estatística & dados numéricos , Especialidades Cirúrgicas/economia , Especialidades Cirúrgicas/estatística & dados numéricos , Doenças da Glândula Tireoide/epidemiologia , Doenças da Glândula Tireoide/cirurgia , Estados Unidos/epidemiologia
11.
J Clin Endocrinol Metab ; 93(12): 4755-8, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18827002

RESUMO

CONTEXT: Familial clustering of a disease is an indicator of a possible heritable cause. In the era of genome scans, the consideration of data on heritability should be important in the assessment of the likely success of the scans. OBJECT: The objective of the study was to carry out a family study on nonthyroid endocrine diseases to search familial clustering of these diseases beyond the known syndromes. DESIGN AND SETTING: The Swedish Multigeneration Register on 0- to 72-yr-old subjects was linked to the Hospital Discharge Register from years 1964 to 2004. MAIN OUTCOME MEASURE: Standardized incidence ratios were calculated for offspring of affected parents and siblings by comparing with those whose relatives had no hospitalization for nonthyroid endocrine diseases. RESULTS: A total of 11,948 hospitalized cases and 443 familial cases were identified. The familial standardized incidence ratios were increased for parathyroid, pituitary, and adrenal hyperfunctions and hypofunctions, some findings consistent with known syndromes, most clearly that for adrenal cortical hypofunction showing recessive inheritance described for autoimmune polyendocrine syndrome 1. The sibling risks were very high for many diseases, but some of these affecting young individual may be due to bias caused by selective hospitalization. A high sibling risk observed for anterior pituitary hypofunction may represent a yet-unknown recessive syndrome. CONCLUSIONS: To our knowledge this is a first population-based study on nonthyroid endocrine diseases. The results call for further studies to sort out the challengingly high sibling risk for many individual nonthyroid endocrine diseases, whether they are due to bias or possible recessive effects.


Assuntos
Doenças do Sistema Endócrino/epidemiologia , Doenças do Sistema Endócrino/genética , Adolescente , Doenças das Glândulas Suprarrenais/epidemiologia , Doenças das Glândulas Suprarrenais/genética , Adulto , Idade de Início , Idoso , Criança , Pré-Escolar , Análise por Conglomerados , Estudos de Coortes , Bases de Dados Factuais , Feminino , Hospitalização/estatística & dados numéricos , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Doenças das Paratireoides/epidemiologia , Doenças das Paratireoides/genética , Doenças da Hipófise/epidemiologia , Doenças da Hipófise/genética , Sistema de Registros , Medição de Risco , Suécia , Adulto Jovem
13.
Biomed Pharmacother ; 58(6-7): 348-50, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15271414

RESUMO

We conducted a large-scale nation-wide questionnaire survey to ascertain the status of familial medullary thyroid carcinoma (MTC) in Japan in 2002. Out of a total of 271 MTC cases (male to female ratio 1:1.4), multiple endocrine neoplasia (MEN) 2A accounted for 83 cases (30.6%), familial MTC (FMTC) for 14 cases (5.1%), MEN for 11 cases (4.1%), and sporadic MTC for 163 cases (60.1%). Mean age at the time of diagnosis was 35.6 in MEN2A, 34.6 in FMTC, 30.5 in MEN2B, and 47.6 in sporadic MTC. Forty-five percent of MEN2A patients had pheochromocytoma and 11% of MEN2A patients had parathyroid disorders when MTC was diagnosed. Finally, the RET oncogene test yielded the largest number of initial findings that led to diagnosis of familial MTC.


Assuntos
Carcinoma Medular/epidemiologia , Carcinoma Medular/genética , Neoplasias da Glândula Tireoide/epidemiologia , Neoplasias da Glândula Tireoide/genética , Neoplasias das Glândulas Suprarrenais/epidemiologia , Neoplasias das Glândulas Suprarrenais/genética , Adulto , Feminino , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 2a/epidemiologia , Neoplasia Endócrina Múltipla Tipo 2a/genética , Neoplasia Endócrina Múltipla Tipo 2b/epidemiologia , Neoplasia Endócrina Múltipla Tipo 2b/genética , Proteínas Oncogênicas/genética , Doenças das Paratireoides/epidemiologia , Doenças das Paratireoides/genética , Feocromocitoma/epidemiologia , Feocromocitoma/genética , Proteínas Proto-Oncogênicas c-ret , Proto-Oncogenes , Receptores Proteína Tirosina Quinases/genética
14.
N Z Med J ; 101(856 Pt 1): 655-6, 1988 Oct 26.
Artigo em Inglês | MEDLINE | ID: mdl-3186002

RESUMO

We have reviewed the clinical and pathological records of 4 patients presenting for treatment of parathyroid cyst in Auckland between 1970 and 1987. The mean age of the patients was 60.5 years and 3 patients presented with symptomatic hyperparathyroidism (2 male and 1 female patient) and 1 female patient presented with a neck mass and tracheal compression. All cysts were unilocular and filled with clear fluid (mean cyst diameter was 1.5 cm and mean cyst weight was 5.55 g). Four out of the 5 cysts were located in the inferior neck. Of the three patients with hyperparathyroidism, 2 patients had associated parathyroid adenoma (1 patient having bilateral cystic adenomas) and 1 patient had hyperplasia of the remaining glandular tissue. We conclude that parathyroid cyst is an uncommon clinical problem of uncertain aetiology affecting middle aged and elderly patients.


Assuntos
Adenoma/epidemiologia , Cistos/epidemiologia , Hiperparatireoidismo/epidemiologia , Doenças das Paratireoides/epidemiologia , Neoplasias das Paratireoides/epidemiologia , Adenoma/complicações , Adenoma/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Cistos/complicações , Cistos/patologia , Feminino , Humanos , Hiperparatireoidismo/complicações , Hiperparatireoidismo/patologia , Hiperplasia/complicações , Hiperplasia/epidemiologia , Hiperplasia/patologia , Masculino , Pessoa de Meia-Idade , Nova Zelândia , Doenças das Paratireoides/complicações , Doenças das Paratireoides/patologia , Neoplasias das Paratireoides/complicações , Neoplasias das Paratireoides/patologia , Estudos Retrospectivos
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