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1.
BMJ Case Rep ; 17(7)2024 Jul 04.
Article de Anglais | MEDLINE | ID: mdl-38964875

RÉSUMÉ

Variations in parathyroid gland positions often cause failure in initial parathyroid adenoma surgery, especially when imaging fails to localise the adenoma. This report describes a female patient with primary hyperparathyroidism for which preoperative localisation studies did not determine the position of the hyperfunctioning gland. The initial approach with bilateral cervical exploration and intraoperative parathyroid hormone monitoring was performed unsuccessfully. A mediastinal adenoma was suspected due to meticulous negative neck exploration and repeated negative images for a neck adenoma. Subsequently, a second approach involving mediastinal exploration was performed. After the removal of remnant thymic tissue in the mediastinal space, a significant drop in intraoperative parathyroid hormone levels was achieved. The pathological result confirmed the presence of a tiny pathological parathyroid adenoma within the thymus. At 6 months follow-up, postoperative biochemical assessment was consistent with normal calcium and parathyroid hormone levels.


Sujet(s)
Adénomes , Hyperparathyroïdie primitive , Tumeurs de la parathyroïde , Humains , Tumeurs de la parathyroïde/complications , Tumeurs de la parathyroïde/chirurgie , Tumeurs de la parathyroïde/imagerie diagnostique , Femelle , Hyperparathyroïdie primitive/chirurgie , Hyperparathyroïdie primitive/étiologie , Hyperparathyroïdie primitive/complications , Hyperparathyroïdie primitive/diagnostic , Hyperparathyroïdie primitive/imagerie diagnostique , Adénomes/complications , Adénomes/chirurgie , Adénomes/imagerie diagnostique , Tumeurs du médiastin/complications , Tumeurs du médiastin/imagerie diagnostique , Tumeurs du médiastin/chirurgie , Hormone parathyroïdienne/sang , Adulte d'âge moyen , Glandes parathyroïdes/imagerie diagnostique , Parathyroïdectomie
2.
Medicina (B Aires) ; 84(3): 433-444, 2024.
Article de Anglais | MEDLINE | ID: mdl-38907957

RÉSUMÉ

INTRODUCTION: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant inherited disease with an estimated prevalence of 2-10:100 000. The main locations of tumors are parathyroid glands (HPT), gastroenteropancreatic tract (GEPT), and anterior pituitary gland (PT). The aim of our investigation was to describe the phenotype and genotype of Argentinian patients with MEN1. METHODS: A total of 68 index patients diagnosed with at least two of the three main tumors or one tumor and a relative with MEN1, and 84 first-degree relatives were studied. We sequenced the coding region (exons 2-10); the promoter, exon 1; and the flanking intronic regions of the MEN1 gene, following the Sanger method. We used MLPA in index patients without mutation. RESULTS: Prevalence of tumors: HPT 87.5%, GEPT 49% (p< 0.001). No statistical differences in the prevalence of HPT vs. PT (68%). Prevalence of pathogenic variants: 90% in familial cases and 51% in sporadic cases. Of the different 36 pathogenic variants, 13 (36.2%) were frameshift micro-rearrangement, 8 (22.2%) were missense, 9 (25%) were nonsense, 3 (8.3%) were mutations in splicing sites, 2 (5.5%) were large deletions and, 1 in-frame micro-rearrangement. We found 7 novel pathogenic variants. Thirty-nine percent (n = 33) of first-degree relatives of 23 families were found to be mutation carriers. CONCLUSION: The phenotype and genotype of Argentinian patients was similar to other MEN1 populations. A high frequency of PT and the identification of seven novel mutations are underscored.


Introducción: La neoplasia endocrina múltiple tipo 1 (NEM1) es una enfermedad hereditaria autosómica dominante con una prevalencia estimada de 2-10:100 000. Las localizaciones principales de los tumores son glándulas paratiroides (HPT), tracto gastroenteropancreático (TGEP) y glándula pituitaria (TP). El objetivo de nuestra investigación fue describir el fenotipo y genotipo de pacientes argentinos con NEM1. Métodos: Estudiamos 68 casos índices diagnosticados por presentar al menos dos de los tres tumores principales, o un tumor y un pariente con NEM1, y 84 familiares de primer grado. Secuenciamos la región codificante (exones 2-10); el promotor, exón 1; y las regiones intrónicas flanqueantes del gen MEN1 siguiendo el método de Sanger. Utilizamos MLPA en pacientes índice sin mutación. Resultados: Prevalencia de tumores: HPT 87.5%, TGEP 49% (p < 0.001), sin diferencias estadísticas entre las prevalencias de HPT vs TP (68%). Prevalencia de variantes patogénicas: 90% en casos familiares y 51% en esporádicos. Hallamos 36 variantes patogénicas, 7 (20%) fueron noveles. Fueron 13 (36.2%) microarreglos con cambio en el marco de lectura, 9 (25%) variantes sin sentido, 8 (22.2%) con cambio de sentido, 3 (8.3%) en sitio de unión de empalme, 2 (5.5%) grandes deleciones y 1 microarreglo sin cambio en el marco de lectura. El 39 % (n = 33) de los parientes de primer grado en 23 familias fueron portadores de mutaciones. Conclusión: El fenotipo y genotipo de los pacientes argentinos con NEM1 fue similar al de otras poblaciones. Destacamos una alta frecuencia de TP y de variaciones patogénicas noveles.


Sujet(s)
Génotype , Néoplasie endocrinienne multiple de type 1 , Phénotype , Humains , Argentine/épidémiologie , Mâle , Néoplasie endocrinienne multiple de type 1/génétique , Néoplasie endocrinienne multiple de type 1/épidémiologie , Femelle , Adulte , Adulte d'âge moyen , Adolescent , Jeune adulte , Enfant , Sujet âgé , Mutation , Enfant d'âge préscolaire , Tumeurs de la parathyroïde/génétique , Tumeurs de la parathyroïde/épidémiologie , Protéines proto-oncogènes
3.
J Cardiothorac Surg ; 19(1): 177, 2024 Apr 04.
Article de Anglais | MEDLINE | ID: mdl-38575949

RÉSUMÉ

BACKGROUND: Hyperparathyroidism (HPT) is a disease caused by hypersecretion of one or more parathyroid glands, it can be associated with ectopic mediastinal parathyroid glands (MEPA) in 2% of cases. The use of video-assisted thoracoscopic surgery (VATS) for the surgical resection of these glands is a safe, cost-effective, and low morbidity option for patients with MEPA. We report a case series of patients with this disease managed with VATS, the first in Mexico and Latinamerica. METHODS: From 2008 to 2022, a retrospective study involving patients with MEPA and treated by VATS approach was performed in a tertiary hospital in Mexico city. Relevant biochemical and clinical variables such as imaging studies, pre and postoperative laboratory results, surgical strategy, outcomes and pathological analysis were analyzed. RESULTS: Four cases of mediastinal parathyroid adenomas causing HPT were included. All patients were female with a median age of 52.5 years-old (range 46-59 years), half of the patients had primary HPT and the others tertiary HPT after kidney transplant. 75% of cases had a MEPA in the medium mediastinum, all had a preoperative positive SPECT-CT 99mTc Sestamibi scan. Mean preoperative PTH was 621.3pg/mL (182-1382pg/mL). All patients successfully underwent parathyroidectomy with a VATS approach, no deaths were reported. CONCLUSIONS: VATS is a minimally invasive surgery that provides adequate access to mediastinal located glands, optimal visualization of mediastinal structures and has a high resection success rate with less complications and morbidity than open approaches.


Sujet(s)
Tumeurs de la parathyroïde , Humains , Femelle , Adulte d'âge moyen , Mâle , Tumeurs de la parathyroïde/imagerie diagnostique , Tumeurs de la parathyroïde/chirurgie , Tumeurs de la parathyroïde/anatomopathologie , Médiastin/chirurgie , Études rétrospectives , Glandes parathyroïdes/chirurgie , Glandes parathyroïdes/anatomopathologie , Parathyroïdectomie/méthodes , Technétium (99mTc) sestamibi
4.
BMJ Case Rep ; 17(4)2024 Apr 11.
Article de Anglais | MEDLINE | ID: mdl-38604742

RÉSUMÉ

This is a case of primary hyperparathyroidism in a female teenager with multiple fractures and severe bone manifestations. The histopathology revealed atypical parathyroid adenoma, an exceedingly rare form of hyperparathyroidism; its main differential diagnosis is parathyroid carcinoma, as it shares both clinical and histological characteristics with it, in addition to its still uncertain malignant potential.


Sujet(s)
Hyperparathyroïdie , Tumeurs de la parathyroïde , Humains , Adolescent , Femelle , Tumeurs de la parathyroïde/diagnostic , Tumeurs de la parathyroïde/imagerie diagnostique , Glandes parathyroïdes/imagerie diagnostique , Glandes parathyroïdes/anatomopathologie , Os et tissu osseux/anatomopathologie
5.
Medicina (B Aires) ; 84(2): 342-346, 2024.
Article de Anglais | MEDLINE | ID: mdl-38683521

RÉSUMÉ

Primary hyperparathyroidism (PHPT) is characterized by elevated levels of calcium and parathyroid hormone (PTH). However, the interpretation of diagnostic tests, such as serum calcium and PTH levels, is complex in pregnant women. The aim of this report is to present a case of PHTP in a pregnant adolescent, with a special emphasis on an uncommon complication, as well as diagnostic and treatment strategies. A 17-year-old pregnant female presented with hyperemesis gravidarum and neurological symptoms, leading to the diagnosis of cerebral venous thrombosis. Further investigations revealed hypercalcemia and persistently elevated PTH levels, consistent with PHPT. After localization studies, the patient underwent an emergency parathyroidectomy with a diagnosis of parathyroid adenoma. During follow-up, intrauterine growth restriction and severe preeclampsia developed, necessitating an emergency cesarean section. Both the mother and neonate had favorable outcomes. PHPT is an infrequent condition in the pregnant population, and its diagnosis can be challenging due to the overlap of symptoms with normal physiological changes during pregnancy. The occurrence of uncommon complications, such as thrombotic phenomena, highlights the need for a comprehensive approach to ensure early detection and management. In most cases, parathyroidectomy is the treatment of choice.


El hiperparatiroidismo primario (HPTP) se caracteriza por niveles elevados de calcio y hormona paratiroidea (PTH). Sin embargo, la interpretación de pruebas diagnósticas, como los niveles de calcio sérico y PTH, es compleja en mujeres embarazadas. El objetivo de este reporte es presentar un caso de HPTP en una adolescente embarazada, con especial hincapié en una complicación infrecuente, así como en las estrategias diagnósticas y de tratamiento. Una mujer embarazada de 17 años presentó hiperémesis gravídica y síntomas neurológicos, lo que llevó al diagnóstico de trombosis venosa cerebral. Posteriores investigaciones revelaron hipercalcemia y niveles persistentemente elevados de PTH, consistentes con HPTP. Tras la realización de estudios de localización, la paciente fue sometida a una paratiroidectomía de emergencia con diagnóstico de adenoma de paratiroides. Durante el seguimiento, se desarrolló restricción del crecimiento intrauterino y preeclampsia grave, lo que resultó en la necesidad de realizar una cesárea de emergencia. Tanto la madre como el neonato evolucionaron favorablemente. El HPTP es una condición infrecuente en la población embarazada y su diagnóstico puede ser desafiante por la superposición de síntomas con los cambios fisiológicos normales del embarazo. La aparición de complicaciones infrecuentes, como fenómenos trombóticos, resalta la necesidad de un abordaje integral para garantizar la detección y el manejo temprano. En la mayoría de los casos, la paratiroidectomía es el tratamiento de elección.


Sujet(s)
Hyperparathyroïdie primitive , Tumeurs de la parathyroïde , Parathyroïdectomie , Humains , Femelle , Grossesse , Hyperparathyroïdie primitive/complications , Hyperparathyroïdie primitive/diagnostic , Hyperparathyroïdie primitive/chirurgie , Hyperparathyroïdie primitive/sang , Tumeurs de la parathyroïde/complications , Tumeurs de la parathyroïde/chirurgie , Tumeurs de la parathyroïde/diagnostic , Adolescent , Adénomes/complications , Adénomes/chirurgie , Adénomes/diagnostic , Hormone parathyroïdienne/sang , Complications tumorales de la grossesse/chirurgie , Complications tumorales de la grossesse/diagnostic , Complications de la grossesse/diagnostic , Hyperémèse gravidique/complications , Hyperémèse gravidique/diagnostic , Hypercalcémie/étiologie , Hypercalcémie/sang , Hypercalcémie/diagnostic , Césarienne
6.
Medicina (B Aires) ; 83(5): 804-807, 2023.
Article de Anglais | MEDLINE | ID: mdl-37870339

RÉSUMÉ

Hyperparathyroidism-induced hypercalcemic crisis (HIHC) is an unusual state of marked progressive primary hyperparathyroidism (PHPT). Patients have severe hypercalcemia and may have severe symptoms such as kidney failure, acute pancreatitis, and mental changes. PHPT is due to the presence of a single gland adenoma/ disease in 80 to 85%; parathyroid carcinoma is reported in <1%. Among patients with adenoma, atypical parathyroid tumor can be found infrequently. Parathyroidectomy is the only curative approach for PHPT. In this report we present three cases of HIHC due to giant parathyroid adenomas (GPAs), one of them with histopathological characteristics of an atypical parathyroid tumor, with satisfactory evolution after parathyroidectomy.


La crisis hipercalcémica inducida por hiperparatiroidismo (HIHC) es un estado inusual de hiperparatiroidismo primario progresivo y marcado (HPTP). Los pacientes tienen hipercalcemia grave y pueden tener síntomas graves como insuficiencia renal, pancreatitis aguda y cambios mentales. El HPTP se debe a la presencia de un adenoma/enfermedad de una sola glándula en 80 a 85%; el carcinoma de paratiroides se informa en <1%. Entre los pacientes con adenoma, el tumor paratiroideo atípico se puede encontrar con baja frecuencia. La paratiroidectomía es el único abordaje curativo del HPTP. En este reporte presentamos tres casos de HIHC por adenomas paratiroideos gigantes (APGs), uno de ellos con características histopatológicas de tumor paratiroideo atípico, con evolución satisfactoria luego de paratiroidectomía.


Sujet(s)
Adénomes , Hypercalcémie , Hyperparathyroïdie primitive , Pancréatite , Tumeurs de la parathyroïde , Humains , Hypercalcémie/étiologie , Hypercalcémie/diagnostic , Tumeurs de la parathyroïde/complications , Tumeurs de la parathyroïde/chirurgie , Hyperparathyroïdie primitive/complications , Hyperparathyroïdie primitive/diagnostic , Maladie aigüe , Adénomes/complications , Adénomes/chirurgie , Adénomes/anatomopathologie
7.
Actual. osteol ; 19(2): 160-166, sept. 2023. ilus, tab
Article de Espagnol | LILACS, UNISALUD, BINACIS | ID: biblio-1525671

RÉSUMÉ

Introducción: describir el caso de un paciente con pancreatitis aguda secundaria a hipercalcemia por hiperparatiroidismo prImario. Esta es una causa poco frecuente de pancreatitis, asociada a morbimortalidad significativa en caso de no ser diagnosticada oportunamente Caso clínico: un hombre de 44 años, con antecedente de pancreatitis de presunto origen biliar que había requerido previamente colecistectomía, consultó por dolor abdominal y náuseas. Los estudios complementarios fueron compatibles con un nuevo episodio de pancreatitis aguda. Presentaba hipercalcemia y hormona paratiroidea (PTH) elevada, configurando hiperparatiroidismo primario. La gammagrafía informó hallazgos compatibles con adenoma paratiroideo. Se inició tratamiento con reanimación hídrica y analgesia con adecuada disminución de calcio sérico y resolución de dolor abdominal. Después de la paratiroidectomía se logró normalizar los niveles de calcio y PTH. Discusión: la pancreatitis aguda es una condición potencialmente fatal, por lo que la sospecha de causas poco frecuentes como la hipercalcemia debe tenerse en cuenta. El tratamiento de la hipercalcemia por adenoma paratiroideo se basa en reanimación hídrica adecuada y manejo quirúrgico del adenoma, con el fin de evitar recurrencia de pancreatitis y mortalidad. (AU)


Introduction: we describe the case of a patient with acute pancreatitis secondary to hypercalcemia due to primary hyperparathyroidism. This is a rare cause of pancreatitis associated with significant morbidity and mortality if not diagnosed in time. Clinical case: a 44-year-old man with a history of pancreatitis of presumed biliary origin, which had previously required cholecystectomy, consulted for abdominal pain and nausea. The laboratory findings were compatible with a new episode of acute pancreatitis. He presented hypercalcemia and an elevated parathyroid hormone (PTH), configuring primary hyperparathyroidism. Scintigraphy was performed, yielding findings compatible with parathyroid adenoma. Treatment with fluid resuscitation and analgesia was started, resulting in an adequate decrease in serum calcium and resolution of abdominal pain. After parathyroidectomy, calcium and PTH levels were normalized. Discussion: acute pancreatitis is a potentially fatal condition; therefore the suspicion of rare causes, such as hypercalcemia, should be considered. The treatment of hypercalcemia due to parathyroid adenoma is based on adequate fluid resuscitation and surgical management of the adenoma, to avoid recurrence of pancreatitis and death. (AU)


Sujet(s)
Humains , Mâle , Adulte , Pancréatite/étiologie , Tumeurs de la parathyroïde/imagerie diagnostique , Hyperparathyroïdie primitive/imagerie diagnostique , Hypercalcémie/étiologie , Pancréatite/prévention et contrôle , Tumeurs de la parathyroïde/chirurgie , Tumeurs de la parathyroïde/complications , Scintigraphie , Technétium (99mTc) sestamibi , Hyperparathyroïdie primitive/complications , Hypercalcémie/sang , Hypercalcémie/thérapie
8.
J Med Case Rep ; 17(1): 373, 2023 Sep 01.
Article de Anglais | MEDLINE | ID: mdl-37653552

RÉSUMÉ

BACKGROUND: There is some evidence supporting the idea that double parathyroid adenomas represent a different entity from multiglandular hyperplasia; however, the distinction among them is not straightforward. CASE PRESENTATION: We described a case of primary hyperparathyroidism (PHPT) with pronounced clinical manifestations, caused by a bilateral giant parathyroid adenoma. A 34-year-old Hispanic/Latino male was diagnosed with PHPT caused by two giant parathyroid adenomas. The preoperative tests were neck ultrasound and computed tomography scan (CT-scan), showing two masses in the territory of parathyroid glands, bilaterally distributed (right was 31 × 18 × 19 mm and the left was 38 × 15 × 14 mm); sestamibi scan was not available. Parathyroid hormone (PTH) was highly elevated. Multiple complications of PHPT were present, such as bone lytic lesions, renal and pancreatic calcifications, and cardiovascular disease, the latter of which is an overlooked complication of PHPT. Multiple endocrine neoplasia 1 and 2 (MEN 1/2) were ruled out by the absence of clinical, biochemical, and radiological findings in other endocrine glands. The patient underwent subtotal parathyroidectomy with an intraoperative histopathological study; both intraoperative and definitive histopathology results were consistent with parathyroid adenomas; afterward, adequate suppression of PTH was assured, and later on, the patient presented hungry bone syndrome (HBS). CONCLUSIONS: The diagnosis of double parathyroid adenomas is difficult. Regarding the similarities between multiglandular hyperplasia and parathyroid adenomas, this case report contributes to the further distinction between these two clinical entities. This case report also represents, in particular, the challenge of difficult diagnosis in places with limited resources, such as developing countries.


Sujet(s)
Maladies osseuses , Hypocalcémie , Tumeurs de la parathyroïde , Humains , Adulte , Tumeurs de la parathyroïde/complications , Tumeurs de la parathyroïde/imagerie diagnostique , Tumeurs de la parathyroïde/chirurgie , Hyperplasie , Hormone parathyroïdienne
9.
Arch Endocrinol Metab ; 67(6): e000615, 2023 Jun 19.
Article de Anglais | MEDLINE | ID: mdl-37364141

RÉSUMÉ

Primary hyperparathyroidism (PHPT) is an endocrine disorder characterized by hypercalcaemia and elevated or inappropriately normal concentrations of parathyroid hormone. Remission of PHPT caused by infarction or hemorrhage of a parathyroid adenoma rarely occurs, either spontaneously or induced, not always leading to a definitive cure. We report a case of 72-year-old women with primary hyperparathyroidism who underwent fine-needle aspiration cytology (FNAC) of a parathyroid adenoma mistaken for a thyroid nodule followed by normalization of parathyroid hormone (PTH) and serum calcium levels. Parathyroid origin was confirmed by immunohistochemistry. PTH levels began to rise at 4 months after FNAC demonstrating recurrence of the PHPT. This report shows that FNAC induced hemorrhage may cause remission of PHPT. Nevertheless, patient´s levels of PTH and serum calcium should be monitored, as remission may only be transitory.


Sujet(s)
Hyperparathyroïdie primitive , Tumeurs de la parathyroïde , Nodule thyroïdien , Humains , Femelle , Sujet âgé , Nodule thyroïdien/complications , Cytoponction , Tumeurs de la parathyroïde/complications , Hyperparathyroïdie primitive/complications , Calcium , Hormone parathyroïdienne , Hémorragie
10.
Rio de Janeiro; s.n; 2023.
Thèse de Portugais | Coleciona SUS | ID: biblio-1532033

RÉSUMÉ

Introdução: o hiperparatireoidismo primário (HPTP) é um distúrbio endócrino comum, tipicamente caracterizado por hipercalcemia e níveis elevados ou inapropriadamente normais do hormônio da paratireoide (HPT). O HPTP resulta da secreção autônoma e excessiva do HPT de uma ou mais glândulas paratireoides. O HPTP é benigno e causado por adenoma, na maioria dos casos. Os elementos essenciais para definir a natureza benigna ou maligna da paratireoide requerem informações clínicas juntamente com as peças cirúrgicas para avaliação patológica, além de elementos não essenciais como avaliação bioquímica pré-operatória e achados operatórios, auxiliando na definição dessa doença. Objetivo: descrever o perfil clínico-epidemiológico dos pacientes com HPTP operados no Instituto Nacional de Câncer (INCA). Método: estudo epidemiológico observacional descritivo com desenho transversal retrospectivo de pacientes maiores de 18 anos de idade, de ambos os sexos, submetidos à paratireoidectomia no INCA, cujas peças cirúrgicas e laudos histopatológicos estavam registradas pela Divisão de Patologia (DIPAT), além do registro bioquímico da elevação do HPT no pré-operatório, no período de janeiro de 1998 até maio 2022. Resultados: dos 28 prontuários avaliados, verificou se que 78,6% dos pacientes eram do sexo feminino; relação mulher/homem de 3 a 4:1; a idade média foi de 55 anos; 75,0% tinham adenoma como principal causa de HPTP, seguido do carcinoma da paratireoide (CP) (14,3%); como fator etiológico da tumorigênese, 14,3% fazem parte da síndrome endócrina hereditária, incluindo neoplasia endócrina múltipla (NEM). 71,2% dos pacientes com HPTP são sintomáticos; 57,3% manifestação esquelética pré-operatória, sendo a dor óssea (28,8%), o sintoma mais frequente, 17,8% radiograficamente representado pelo tumor marrom; 53,5% manifestação renal pré-operatória, 42,8% radiograficamente representado por litíase renal. O principal fator de risco para carcinoma da paratireoide (CP) pré-operatório foi a avaliação bioquímica com dosagem sérica pré-operatório do cálcio, PTH e fósforo (p<0,05). Finalizando, a média de seguimento foi de 31,1 meses, com a cura cirúrgica (92,8%) como principal desfecho clínico seguido de doença estrutural (7,2%). Durante todo o seguimento 17,8% evoluíram com óbito. Conclusão: evidenciou-se uma população de HPTP de maioria benigna, tipicamente por adenoma com manifestação sintomática, com hipercalcemia acentuada, onde CP foi a segunda causa mais prevalente do HPTP operado no INCA


Introduction: Primary hyperparathyroidism (PHPT) is a common endocrine disorder, typically characterized by hypercalcemia and elevated or inappropriately normal levels of parathyroid hormone (PTH). HPTP results from autonomous and excessive secretion of HPT from one or more parathyroid glands. HPTP is benign and caused by adenoma in most cases. The essential elements to define the benign or malignant nature of the parathyroid require clinical information together with the surgical specimens for pathological evaluation, in addition to non-essential elements such as preoperative biochemical evaluation and operative findings, helping to define this disease. Objective: to describe the clinical-epidemiological profile of patients with PHPT operated on at Brazilian National Cancer Institute (INCA). Method: descriptive observational epidemiological study with retrospective cross-sectional design of patients over 18 years of age, of both sexes, submitted to parathyroidectomy at INCA, whose surgical specimens and histopathological reports were registered by the Division of Pathology (DIPAT), in addition to the biochemical registry preoperative HPT elevation, from January 1998 to May 2022. Results: of the 28 medical records evaluated, it was found that 78.6% of the patients were female; female/male ratio from 3 to 4:1; the average age was 55 years; 75.0% had adenoma as the main cause of PHPT, followed by parathyroid carcinoma (PC) (14.3%); as an etiological factor of tumorigenesis, 14.3% are part of the hereditary endocrine syndrome, including multiple endocrine neoplasia (MEN). 71.2% of patients with PHPT are symptomatic; 57.3% preoperative skeletal manifestation, with bone pain (28.8%) being the most frequent symptom, 17.8% radiographically represented by the brown tumor; 53.5% preoperative renal manifestation, 42.8% radiographically represented by renal lithiasis. The main risk factor for preoperative parathyroid carcinoma (PC) was the biochemical evaluation with preoperative serum levels of calcium, PTH and phosphorus (p<0.05). Finally, the mean follow-up was 31.1 months, with surgical cure (92.8%) as the main clinical outcome, followed by structural disease (7.2%). During the entire follow-up, 17.8% died. Conclusion: a benign majority of PHPT population was evidenced, typically due to adenoma with symptomatic manifestation, with severe hypercalcemia, where CP was the second most prevalent cause of PHPT operated at INCA


Sujet(s)
Humains , Mâle , Femelle , Hormone parathyroïdienne , Tumeurs de la parathyroïde , Néoplasie endocrinienne multiple , Hyperparathyroïdie primitive
11.
Arch Endocrinol Metab ; 66(5): 678-688, 2022 Nov 11.
Article de Anglais | MEDLINE | ID: mdl-36382757

RÉSUMÉ

Primary hyperparathyroidism (PHPT) is a hypercalcemic disorder that occurs when one or more parathyroid glands produces excessive parathyroid hormone (PTH). PHPT is typically treated with surgery, and it remains the only definitive therapy, whose techniques have evolved over previous decades. Advances in preoperative localization exams and the intraoperative PTH monitoring have become the cornerstones of recent parathyroidectomy techniques, as minimally invasive techniques are appropriate for most patients. Nevertheless, these techniques, are not suitable for PHPT patients who are at risk for multiglandular disease, especially in those who present with familial forms of PHPT that require bilateral neck exploration. This manuscript also explores other conditions that warrant special consideration during surgical treatment for PHPT: normocalcemic primary hyperparathyroidism, pregnancy, reoperation for persistent or recurrent PHPT, parathyroid carcinoma, and familial and genetic forms of hyperparathyroidism.


Sujet(s)
Hyperparathyroïdie primitive , Tumeurs de la parathyroïde , Humains , Hyperparathyroïdie primitive/chirurgie , Parathyroïdectomie/effets indésirables , Tumeurs de la parathyroïde/complications , Tumeurs de la parathyroïde/chirurgie , Hormone parathyroïdienne , Glandes parathyroïdes/chirurgie
12.
Rev. med. Chile ; 150(7): 970-974, jul. 2022. tab, ilus
Article de Espagnol | LILACS | ID: biblio-1424152

RÉSUMÉ

Severe hypercalcemia may cause acute pancreatitis. We report a 75-yearold male presenting with abdominal pain and confusion. The initial laboratory showed elevated amylase levels and a serum calcium of 19.0 mg/dl with highly elevated parathormone levels. An abdominal CT scan disclosed pancreatitis. A neck CT scan showed a parathyroid tumor, which was successfully excised. The pathology of the surgical piece showed a parathyroid adenoma.


Sujet(s)
Humains , Femelle , Sujet âgé , Pancréatite/complications , Pancréatite/imagerie diagnostique , Tumeurs de la parathyroïde , Hypercalcémie/complications , Douleur abdominale , Maladie aigüe
13.
Int J Mol Sci ; 23(10)2022 May 11.
Article de Anglais | MEDLINE | ID: mdl-35628190

RÉSUMÉ

Parathyroid tumors are very prevalent conditions among endocrine tumors, being the second most common behind thyroid tumors. Secondary hyperplasia can occur beyond benign and malignant neoplasia in parathyroid glands. Adenomas are the leading cause of hyperparathyroidism, while carcinomas represent less than 1% of the cases. Tumor suppressor gene mutations such as MEN1 and CDC73 were demonstrated to be involved in tumor development in both familiar and sporadic types; however, the epigenetic features of the parathyroid tumors are still a little-explored subject. We present a review of epigenetic mechanisms related to parathyroid tumors, emphasizing advances in histone modification and its perspective of becoming a promising area in parathyroid tumor research.


Sujet(s)
Hyperparathyroïdie , Tumeurs de la parathyroïde , Épigenèse génétique , Épigénomique , Code histone/génétique , Humains , Hyperparathyroïdie/génétique , Tumeurs de la parathyroïde/génétique
14.
Rev. cir. (Impr.) ; 74(2): 193-196, abr. 2022. ilus
Article de Espagnol | LILACS | ID: biblio-1449902

RÉSUMÉ

Introducción: Los paragangliomas son tumores raros, y más raros aun cuando se presentan con otros tumores endocrinos. Objetivo: Presentar el caso de un paraganglioma del cuerpo carotídeo asociado con adenomas paratiroideos. Materiales y Método: Se presenta la evaluación clínica, imagenológica y fotográfica del caso. Resultados: Se presenta el caso de una paciente de 34 años con una masa cervical en región cervical de un año de evolución y que, durante los estudios de extensión, se encontró que correspondía a un paraganglioma en la bifurcación carotídea izquierda, asociada además con dos adenomas paratiroideos, que fueron resecados sin complicaciones. Discusión: Se discute la fisiopatología, el diagnóstico y manejo en relación con el caso presentado. Conclusión: La presentación de paragangliomas del cuerpo carotídeo asociadas con adenomas paratiroideos es rara, y su evaluación clínica deberá ser individualizada, dado que, si bien el manejo será en su mayoría quirúrgico, el abordaje dependerá de cada caso.


Introduction: Paragangliomas are rare tumors, and they are even rarer when they present with other endocrine tumors. Aim: To present a clinical case of a carotid body paraganglioma associated with parathyroid adenomas. Materials and Method: There are shown the clinical evaluation, images, and photos of the case. Results: We present the case of a 34 years old female patient with a cervical mass, which has grown for a year, and, after extension studies, it was found that the mass corresponded to a paraganglioma located in the left carotid bifurcation, and it was associated with two parathyroid adenomas, all the neoplasms were resected with no complications. Discussion: It is discussed physiopathology, diagnosis and management based on the presented case Conclusion: Carotid body paragangliomas associated with parathyroid adenomas are rare, and the clinical evaluation must be individual, given that, most of the management is surgical, however, the approach will depend on each case.


Sujet(s)
Humains , Femelle , Adulte , Paragangliome/chirurgie , Paragangliome/imagerie diagnostique , Tumeurs de la parathyroïde/diagnostic , Tumeur du glomus carotidien/chirurgie , Tumeur du glomus carotidien/imagerie diagnostique , Tumeurs de la parathyroïde/chirurgie , Adénomes/complications , Échographie
15.
Am Surg ; 88(7): 1549-1550, 2022 Jul.
Article de Anglais | MEDLINE | ID: mdl-35337197

RÉSUMÉ

Parathyroidectomy is the only cure for primary hyperparathyroidism and is effective in more than 95% of cases at initial surgical intervention. However, 2.5-5% of cases have recurrent or persistent disease. Pre-operative imaging is recommended in patients undergoing redo parathyroidectomy to localize the diseased gland. Parathyroid 4D CT scan is now widely used for localization and has been reported to have improved accuracy when compared to other imaging modalities. We conducted a retrospective study of all redo parathyroidectomies from 2017 to 2021 at a single tertiary parathyroid referral center. We evaluated pre-operative 4D CT scan results and compared them to intra-operative findings to determine if 4D CT scan correctly predicted the location of the diseased gland. 4D CT scan had a concordance of 87% with intra-operative findings. 4D CT scan is highly effective identifying parathyroid pathology in re-operative cases and can be used as a pre-operative tool to guide surgical management.


Sujet(s)
Hyperparathyroïdie primitive , Tumeurs de la parathyroïde , Tomodensitométrie 4D/méthodes , Humains , Hyperparathyroïdie primitive/imagerie diagnostique , Hyperparathyroïdie primitive/anatomopathologie , Hyperparathyroïdie primitive/chirurgie , Glandes parathyroïdes/imagerie diagnostique , Glandes parathyroïdes/chirurgie , Hormone parathyroïdienne , Tumeurs de la parathyroïde/imagerie diagnostique , Tumeurs de la parathyroïde/anatomopathologie , Tumeurs de la parathyroïde/chirurgie , Parathyroïdectomie/méthodes , Études rétrospectives , Technétium (99mTc) sestamibi
16.
Cir Cir ; 90(1): 140-149, 2022.
Article de Anglais | MEDLINE | ID: mdl-35120101

RÉSUMÉ

In 1852, Owen, a prominent British anatomist, described the parathyroid glands. While dissecting a rhinoceros, he noted a small compact yellow body, attached to the thyroid. Virchow and later Remak described the human parathyroids around 1960, but credit for the first complete description goes to the Sandström in 1980. More than a decade later Gley, showed that it was the removal of the parathyroids that accounted for the tetany that followed thyroidectomy. The association of parathyroid pathology and skeletal abnormalities was made in 1914 by Erdheim and Schlagenhaufer, and Mandl, was the first surgeon to successfully treat a case of osteitis fibrosa by surgical removal of a parathyroid adenoma in 1925. The most extensive work on hyperparathyroidism was done in the 1930s by Albright form Boston, who described parathyroid hyperplasia, and differentiated between primary, secondary and tertiary hyperparathyroidism. Progresses in anatomy, physiology and surgery of the parathyroid glands, have contributed to various effective modalities of diagnosis and treatment.


En 1852, Owen, un destacado anatomista británico, describió las glándulas paratiroides. Mientras realizaba la disección de un rinoceronte indio, observó un pequeño cuerpo amarillo compacto, unido a la tiroides. Virchow, y más tarde Remak, describieron las paratiroides humanas alrededor de 1860, pero el crédito por la primera descripción completa es para Sandström en 1880. Más de una década después, Gley demostró que era la eliminación de las paratiroides lo que explicaba la tetania después de la tiroidectomía. La asociación de la patología paratiroidea y las anomalías esqueléticas fue establecida en 1914 por Erdheim y Schlagenhaufer, y Mandl fue el primer cirujano en tratar con éxito un caso de osteítis fibrosa mediante la extirpación quirúrgica de un adenoma paratiroideo en 1925. El trabajo más extenso sobre el hiperparatiroidismo fue realizado en la década de 1930 por Albright, en Boston, quien describió la hiperplasia paratiroidea y la diferenció del hiperparatiroidismo primario, secundario y terciario. Los avances en anatomía, fisiología y cirugía de las glándulas paratiroides han contribuido a diversas modalidades efectivas de diagnóstico y tratamiento.


Sujet(s)
Hyperparathyroïdie primitive , Tumeurs de la parathyroïde , Humains , Hyperplasie/anatomopathologie , Mâle , Glandes parathyroïdes/anatomopathologie , Glandes parathyroïdes/chirurgie , Tumeurs de la parathyroïde/chirurgie , Parathyroïdectomie
17.
Rev. venez. cir ; 75(1): 41-44, ene. 2022. ilus
Article de Espagnol | LILACS, LIVECS | ID: biblio-1391613

RÉSUMÉ

El hiperparatiroidismo primario es el tercer trastorno endocrino más común, alrededor del 85% de los casos se debe a adenomas paratiroideos. El tratamiento definitivo es la paratiroidectomía, siendo la causa más común de fracaso la resección inadecuada y la localización de tejido ectópico, representando un desafío para el cirujano. En el presente trabajo se presenta el caso de un paciente con diagnóstico de adenoma paratiroideo mediastínico gigante, siendo este el de mayor longitud descrito en la literatura en los últimos 10 años. Caso clínico: Paciente masculino de 70 años de edad quien consulta por presentar convulsiones, polidipsia y poliuria. Se determinan niveles elevados de PTH, hipercalcemia e hipofosfatemia. Estudios de imagen describen lesión alargada localizada en espacio paratraqueal derecho extendiéndose hasta el polo inferior de lóbulo tiroideo derecho. Se decide resolución quirúrgica, mediante la realización de cervicotomía y toracoscopia con evolución satisfactoria del paciente. Conclusión: Los adenomas paratiroideos ectópicos constituyen una causa común de falla quirúrgica e hiperparatiroidismo persistente, su sospecha es de gran importancia. El tratamiento definitivo es la cirugía. La localización preoperatoria por pruebas de imagen es fundamental para seleccionar correctamente la técnica quirúrgica y garantizar el éxito de la cirugía. El abordaje cervical y toracoscópico es una alternativa segura y eficaz(AU)


Primary hyperparathyroidism is the third most common endocrine disorder, about 85% of cases are due to parathyroid adenomas. The definitive treatment is parathyroidectomy, being the most frequent cause of failure the inadequate resection and the location of ectopic tissue. The ectopic parathyroid adenomas represent a challenge for the surgeon. In this paper a case of a patient diagnosed with giant mediastinal parathyroid adenoma is presented, and is the largest reported in the literature in the last 10 years. Clinical case: 70-year-old male patient presented with seizures, polydipsia and polyuria, reason for which he consults. Elevated PTH levels, hypercalcemia, and hypophosphatemia are determined. Imaging studies report an elongated lesion located in the right paratracheal space that extends to the lower pole of the right thyroid lobe. Surgical resolution was decided, by performing cervicotomy and thoracoscopy with satisfactory recovery of the patient. Conclusion: Ectopic parathyroid adenomas are a common cause of surgical failure and persistent hyperparathyroidism; their suspicion is of great importance. The definitive treatment is surgery. Preoperative localization through imaging tests is essential to correctly select the surgical technique and guarantee the success of the surgery, the cervical and thoracoscopic approach is a safe and effective alternative(AU)


Sujet(s)
Humains , Mâle , Sujet âgé , Glande thyroide , Adénomes , Hyperparathyroïdie primitive/physiopathologie , Tumeurs de la parathyroïde , Thoracoscopie , Parathyroïdectomie
18.
Rev Med Chil ; 150(7): 970-974, 2022 Jul.
Article de Espagnol | MEDLINE | ID: mdl-37906832

RÉSUMÉ

Severe hypercalcemia may cause acute pancreatitis. We report a 75-yearold male presenting with abdominal pain and confusion. The initial laboratory showed elevated amylase levels and a serum calcium of 19.0 mg/dl with highly elevated parathormone levels. An abdominal CT scan disclosed pancreatitis. A neck CT scan showed a parathyroid tumor, which was successfully excised. The pathology of the surgical piece showed a parathyroid adenoma.


Sujet(s)
Hypercalcémie , Pancréatite , Tumeurs de la parathyroïde , Humains , Mâle , Sujet âgé , Hypercalcémie/complications , Maladie aigüe , Pancréatite/complications , Pancréatite/imagerie diagnostique , Douleur abdominale
19.
Actual. osteol ; 18(3): 183-191, 2022. ilus
Article de Espagnol | LILACS, UNISALUD, BINACIS | ID: biblio-1509337

RÉSUMÉ

La crisis hipercalcémica (CH) es una emergencia endocrina inusual, definida por la presencia de calcemia > 14 mg/dl asociada a disfunción renal, alteraciones cardiovasculares, gastrointestinales y del sensorio; también podría considerarse en pacientes con síntomas graves y calcemia menor. El hiperparatiroidismo primario (HPTP) y las neoplasias malignas son las etiologías más comunes de la hipercalcemia (90% de los casos); sin embargo, rara vez el primero se presenta como CH. Debido a la alta mortalidad asociada a esta entidad, es de gran importancia establecer diagnóstico y tratamiento precoces. Presentamos dos pacientes con crisis hipercalcémica como primera manifestación del HPTP, el 1.° con bloqueo auriculoventricular (AV) completo y el 2.° con pancreatitis aguda. La anatomía patológica (AP) reveló adenoma oxifílico en ambos casos, que es una variante histológica poco frecuente y puede manifestarse clínicamente de forma grave. Conclusiones: los adenomas paratiroideos son causa poco frecuente de CH. Consideramos el tipo histológico observado (adenoma oxifílico) como probable factor condicionante. La pancreatitis y especialmente el bloqueo AV son manifestaciones poco frecuentes de la CH. Resaltamos la importancia de la determinación de los niveles de calcio dentro de la evaluación inicial de todo paciente con bloqueo AV. (AU)


Hypercalcemic crisis (HC) is an unusual endocrine emergency, defined as the presence of serum calcium > 14 mg/dl related to kidney dysfunction, cardiovascular, gastrointestinal and sensory disturbances. It could also be considered in patients with severe symptoms and lower serum calcium levels. Primary hyperparathyroidism (PHPT) and malignant neoplasms are the most common hypercalcemia etiologies (90% of cases), nevertheless, the former hardly ever occurs as HC. Due to the high mortality associated with HC, it is crucial to establish early diagnosis and treatment.We report two patients with HC as the first manifestation of PHPT; the former with atrioventricular (AV) block and the latter with acute pancreatitis. Pathology revealed oxyphilic adenoma in both cases, which is an infrequent histological variant that can have a severe clinical manifestation. Conclusions: parathyroid adenomas are a rare cause of HC. We consider the histological type observed (oxyphilic adenoma) as a probable conditioning factor. Pancreatitis and especially AV block are rare manifestations of HC. We emphasize the importance of determining calcium levels in the initial evaluation of all patients with AV block. (AU)


Sujet(s)
Humains , Mâle , Femelle , Sujet âgé , Tumeurs de la parathyroïde/complications , Adénomes/complications , Hyperparathyroïdie primitive/complications , Hypercalcémie/diagnostic , Pancréatite/étiologie , Hormone parathyroïdienne/analyse , Tumeurs de la parathyroïde/anatomopathologie , Adénomes/anatomopathologie , Calcium/sang , Cellules oxyphiles/anatomopathologie , Bloc atrioventriculaire/étiologie , Hypercalcémie/étiologie
20.
Rev. cir. (Impr.) ; 73(6): 748-752, dic. 2021. ilus
Article de Espagnol | LILACS | ID: biblio-1388891

RÉSUMÉ

Resumen Introducción: A pesar de que el carcinoma de paratiroides es uno de los cánceres menos frecuentes del mundo, es importante tenerlo en cuenta al plantear el diagnóstico diferencial del hiperparatiroidismo primario, ya que su diagnóstico temprano tiene repercusiones en el tratamiento y el pronóstico vital del paciente. Caso Clínico: A continuación, se expone un caso clínico de un paciente con sintomatología abigarrada de hiperfunción paratiroidea que, dada la sospecha clínica de carcinoma de paratiroides y la no infiltración de estructuras adyacentes, fue tratado con una paratiroidectomía. Conclusión: Esta cirugía supone una menor morbilidad, sin suponer un detrimento para la supervivencia global del paciente.


Introduction: Parathyroid carcinoma should be taken into consideration among the differential diagnosis of primary hyperparathyroidism, even though it is one of the less common malignant tumours in the world, because an early diagnosis is essential for the treatment and the prognosis of the patient. Case Report: We present the case of a patient whose symptoms were compatible with hyperfunction of parathyroid gland. Due to the malignant disease suspicion and the non-invasion of adjacent tissue, he was treated with a parathyroidectomy. Conclusión: This type of treatment supposes a lower morbidity without decrease in overall survival, according to bibliography.


Sujet(s)
Humains , Mâle , Adulte , Hormone parathyroïdienne/métabolisme , Tumeurs de la parathyroïde/métabolisme , Métastase lymphatique , Tumeurs de la parathyroïde/anatomopathologie , Thyroïdectomie , Tomodensitométrie , Parathyroïdectomie , Échographie
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