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1.
BMJ Case Rep ; 17(7)2024 Jul 04.
Artículo en Inglés | MEDLINE | ID: mdl-38964875

RESUMEN

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.


Asunto(s)
Adenoma , Hiperparatiroidismo Primario , Neoplasias de las Paratiroides , Humanos , Neoplasias de las Paratiroides/complicaciones , Neoplasias de las Paratiroides/cirugía , Neoplasias de las Paratiroides/diagnóstico por imagen , Femenino , Hiperparatiroidismo Primario/cirugía , Hiperparatiroidismo Primario/etiología , Hiperparatiroidismo Primario/complicaciones , Hiperparatiroidismo Primario/diagnóstico , Hiperparatiroidismo Primario/diagnóstico por imagen , Adenoma/complicaciones , Adenoma/cirugía , Adenoma/diagnóstico por imagen , Neoplasias del Mediastino/complicaciones , Neoplasias del Mediastino/diagnóstico por imagen , Neoplasias del Mediastino/cirugía , Hormona Paratiroidea/sangre , Persona de Mediana Edad , Glándulas Paratiroides/diagnóstico por imagen , Paratiroidectomía
2.
Int J Mol Sci ; 25(12)2024 Jun 08.
Artículo en Inglés | MEDLINE | ID: mdl-38928056

RESUMEN

We aimed to provide an in-depth analysis with respect to three turning points in pancreas involvement in primary hyperparathyroidism (PHP): hypercalcemia-induced pancreatitis (HCa-P), MEN1 (multiple endocrine neoplasia)-related neuroendocrine tumors (NETs), and insulin resistance (IR). This was a comprehensive review conducted via a PubMed search between January 2020 and January 2024. HCa-P (n = 9 studies, N = 1375) involved as a starting point parathyroid NETs (n = 7) or pancreatitis (n = 2, N = 167). Case report-focused analysis (N = 27) showed five cases of pregnancy PHP-HCa-P and three reports of parathyroid carcinoma (female/male ratio of 2/1, ages of 34 in women, men of 56). MEN1-NET studies (n = 7) included MEN1-related insulinomas (n = 2) or MEN1-associated PHP (n = 2) or analyses of genetic profile (n = 3), for a total of 877 MEN1 subjects. In MEN1 insulinomas (N = 77), the rate of associated PHP was 78%. Recurrence after parathyroidectomy (N = 585 with PHP) was higher after less-than-subtotal versus subtotal parathyroidectomy (68% versus 45%, p < 0.001); re-do surgery was 26% depending on surgery for pancreatic NETs (found in 82% of PHP patients). MEN1 pathogenic variants in exon 10 represented an independent risk factor for PHP recurrence. A single pediatric study in MEN1 (N = 80) revealed the following: a PHP rate of 80% and pancreatic NET rate of 35% and 35 underlying germline MEN1 pathogenic variants (and 3/35 of them were newly detected). The co-occurrence of genetic anomalies included the following: CDC73 gene variant, glucokinase regulatory protein gene pathogenic variant (c.151C>T, p.Arg51*), and CAH-X syndrome. IR/metabolic feature-focused analysis identified (n = 10, N = 1010) a heterogeneous spectrum: approximately one-third of adults might have had prediabetes, almost half displayed some level of IR as reflected by HOMA-IR > 2.6, and serum calcium was positively correlated with HOMA-IR. Vitamin D deficiency was associated with a higher rate of metabolic syndrome (n = 1). Normocalcemic and mildly symptomatic hyperparathyroidism (n = 6, N = 193) was associated with a higher fasting glucose and some improvement after parathyroidectomy. This multilayer pancreas/parathyroid analysis highlighted a complex panel of connections from pathogenic factors, including biochemical, molecular, genetic, and metabolic factors, to a clinical multidisciplinary panel.


Asunto(s)
Hipercalcemia , Hiperparatiroidismo Primario , Resistencia a la Insulina , Pancreatitis , Humanos , Hiperparatiroidismo Primario/genética , Hiperparatiroidismo Primario/cirugía , Hiperparatiroidismo Primario/complicaciones , Resistencia a la Insulina/genética , Hipercalcemia/genética , Hipercalcemia/etiología , Pancreatitis/genética , Pancreatitis/etiología , Femenino , Masculino , Proteínas Proto-Oncogénicas/genética , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/patología , Neoplasias Pancreáticas/complicaciones , Neoplasia Endocrina Múltiple Tipo 1/genética , Neoplasia Endocrina Múltiple Tipo 1/complicaciones , Neoplasias de las Paratiroides/genética , Neoplasias de las Paratiroides/complicaciones , Neoplasias de las Paratiroides/cirugía , Adulto , Paratiroidectomía , Tumores Neuroendocrinos/genética , Tumores Neuroendocrinos/complicaciones , Tumores Neuroendocrinos/patología , Páncreas/patología , Páncreas/cirugía , Páncreas/metabolismo
4.
J ASEAN Fed Endocr Soc ; 39(1): 115-119, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38863924

RESUMEN

Primary hyperparathyroidism (PHPT) is rare in pregnancy. This condition is challenging to diagnose and manage due to the limited diagnostic and therapeutic options that are safe during pregnancy. If not diagnosed and managed in a timely manner, serious maternal and foetal complications may occur. We report two cases, one with surgical intervention and one without, to show the importance of timely surgical intervention and discuss the challenges in the management of PHPT in pregnancy.


Asunto(s)
Hiperparatiroidismo Primario , Humanos , Femenino , Embarazo , Hiperparatiroidismo Primario/diagnóstico , Hiperparatiroidismo Primario/cirugía , Hiperparatiroidismo Primario/complicaciones , Adulto , Complicaciones del Embarazo/diagnóstico , Neoplasias de las Paratiroides/cirugía , Neoplasias de las Paratiroides/complicaciones , Neoplasias de las Paratiroides/diagnóstico , Paratiroidectomía , Complicaciones Neoplásicas del Embarazo/cirugía , Adenoma/cirugía , Adenoma/complicaciones , Adenoma/diagnóstico , Resultado del Tratamiento
5.
Surg Clin North Am ; 104(4): 811-823, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38944501

RESUMEN

Primary hyperparathyroidism can be sporadic or part of a genetic syndrome, such as MEN1 or HPT-JT. Diagnosis of hereditary HPT requires a thorough history and physical. Parathyroidectomy is curative with greater than 95% success. However, some patients have persistent or recurrent disease requiring reoperation. Reoperative parathyroidectomy is technically challenging, and localizing the pathologic gland can difficult. Patients needing reoperation should undergo evaluation by a high-volume surgeon. Care should be taken to obtain all of the preoperative workup and operative note from the initial surgery. Radioguided parathyroidectomy can be safely and effectively performed in patients with hereditary HPT or undergoing reoperative surgery.


Asunto(s)
Hiperparatiroidismo Primario , Paratiroidectomía , Recurrencia , Humanos , Hiperparatiroidismo Primario/cirugía , Hiperparatiroidismo Primario/diagnóstico , Hiperparatiroidismo Primario/genética , Paratiroidectomía/métodos , Reoperación , Neoplasias de las Paratiroides/cirugía , Neoplasias de las Paratiroides/genética , Neoplasias de las Paratiroides/diagnóstico , Neoplasias de las Paratiroides/complicaciones
6.
Surg Clin North Am ; 104(4): 791-798, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38944499

RESUMEN

Primary hyperparathyroidism (PHPT) is a disorder characterized by the autonomous overproduction of parathyroid hormone (PTH) that leads to hypercalcemia, multiple clinical sequelae, and heterogenous presentation. Whether PHPT is caused by a single benign adenoma (85%), multiglandular disease (15%), or parathyroid carcinoma (1%), surgery is the definitive treatment.


Asunto(s)
Hiperparatiroidismo Primario , Neoplasias de las Paratiroides , Paratiroidectomía , Humanos , Hiperparatiroidismo Primario/diagnóstico , Hiperparatiroidismo Primario/cirugía , Hiperparatiroidismo Primario/complicaciones , Hiperparatiroidismo Primario/terapia , Paratiroidectomía/métodos , Neoplasias de las Paratiroides/complicaciones , Neoplasias de las Paratiroides/cirugía , Neoplasias de las Paratiroides/diagnóstico , Hormona Paratiroidea/sangre , Hormona Paratiroidea/metabolismo , Hipercalcemia/etiología , Hipercalcemia/diagnóstico , Hipercalcemia/terapia , Adenoma/complicaciones , Adenoma/cirugía , Adenoma/diagnóstico
7.
Pol Przegl Chir ; 96(3): 40-50, 2024 Mar 20.
Artículo en Inglés | MEDLINE | ID: mdl-38940244

RESUMEN

<b><br>Introduction:</b> Primary hyperparathyroidism (PHPT) is mainly caused by parathyroid adenoma (PA). Rare variants of PA, weighing >2.0-3.5 g are called "large" or "giant" adenomas and account for about 1.5% of all PA.</br> <b><br>Aim:</b> The aim of this study was to compare normal-sized and large parathyroid lesions identifying risk factors for severe hypercalcemia.</br> <b><br>Materials and methods:</b> 27 patients with PHPT and parathyroid lesion ≥2.0 cm3 (study group) were compared with 73 patients with PHPT and lesion < 2.0 cm<sup>3</sup> (control group). In both groups, the majority were women (81.5% - study group, 90.5% - control group, gender ratios 4.4:9.1, respectively). The patients were examined preoperatively and postoperatively: PTH, creatine, calcium, and phosphate serum and urine concentrations, and calcidiol serum levels were assessed. Preoperative ultrasonography (US) was performed.</br> <b><br>Results:</b> Patients with larger parathyroid lesions had signifficantly higher PTH and calcium serum concentrations and lower serum phosphate and calcidiol concentrations. There were no statistically significant differences in the concentration of creatine in serum and urine, calciuria, or tubular reabsorption of phosphorus (TRP). US relatively underestimated the parathyroid volume by about 0.3-0.4 mL (10% in larger lesions and 43% in smaller ones).</br> <b><br>Conclusions:</b> Due to higher PTH and calcium levels, larger parathyroid adenomas may constitute a higher risk of severe hypercalcemia. In general, US underestimated the parathyroid volume.</br>.


Asunto(s)
Adenoma , Hipercalcemia , Neoplasias de las Paratiroides , Humanos , Hipercalcemia/etiología , Hipercalcemia/sangre , Hipercalcemia/diagnóstico , Neoplasias de las Paratiroides/cirugía , Neoplasias de las Paratiroides/complicaciones , Neoplasias de las Paratiroides/sangre , Femenino , Masculino , Persona de Mediana Edad , Adenoma/cirugía , Adenoma/complicaciones , Adenoma/sangre , Adulto , Anciano , Factores de Riesgo , Hiperparatiroidismo Primario/cirugía , Hiperparatiroidismo Primario/sangre , Hiperparatiroidismo Primario/complicaciones , Calcio/sangre , Paratiroidectomía
8.
Khirurgiia (Mosk) ; (6): 81-87, 2024.
Artículo en Ruso | MEDLINE | ID: mdl-38888023

RESUMEN

We present successful surgical treatment of a patient with chronic kidney disease (CKD) and hyperparathyroidism undergoing renal replacement therapy. At baseline, parathyroidectomy via cervical access was performed for parathyroid adenomas. After 6 years, clinical and laboratory relapse of disease required thoracoscopic resection of atypically located anterior mediastinal adenoma. This case demonstrates that this disease is one of the most difficult in modern medicine requiring a special approach in diagnosis and treatment. Patients with CKD and hyperparathyroidism need for follow-up, control of total and ionized serum calcium, inorganic phosphorus and parathormone, osteodensitometry, ultrasound and scintigraphy of thyroid and parathyroid glands, and, if necessary, CT or MRI of the neck and chest organs.


Asunto(s)
Adenoma , Neoplasias de las Paratiroides , Paratiroidectomía , Humanos , Neoplasias de las Paratiroides/cirugía , Neoplasias de las Paratiroides/complicaciones , Neoplasias de las Paratiroides/diagnóstico , Paratiroidectomía/métodos , Adenoma/cirugía , Adenoma/complicaciones , Adenoma/diagnóstico , Resultado del Tratamiento , Recurrencia Local de Neoplasia/cirugía , Glándulas Paratiroides/cirugía , Persona de Mediana Edad , Toracoscopía/métodos , Masculino , Femenino , Neoplasias del Mediastino/cirugía , Neoplasias del Mediastino/complicaciones , Neoplasias del Mediastino/diagnóstico , Hiperparatiroidismo Secundario/cirugía , Hiperparatiroidismo Secundario/etiología , Hiperparatiroidismo Secundario/diagnóstico , Insuficiencia Renal Crónica/complicaciones , Insuficiencia Renal Crónica/diagnóstico , Mediastino/cirugía
9.
J Nippon Med Sch ; 91(2): 227-232, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38777783

RESUMEN

BACKGROUND: Detective flow imaging (DFI) is a new imaging technology that displays low-velocity blood flow, which is difficult to visualize on conventional color Doppler ultrasonography (CDU). In this study, we compared the usefulness of DFI with that of CDU and methoxy-isobutyl-isonitrile (MIBI) scintigraphy for detecting parathyroid adenoma (PA) in patients with primary hyperparathyroidism (PHPT). METHODS: From March 2021 to March 2023, 87 PHPT patients underwent surgery, and 66 had a single PA. We performed preoperative conventional ultrasonography with CDU, MIBI scintigraphy, and DFI for 42 patients (5 males and 37 females; mean age: 61.6 ± 15.4 years). RESULTS: MIBI scintigraphy detected PA in 85.7% (36/42) patients, and both CDU and DFI detected PA in all patients. The rates of vascularity in PA detected by CDU and DFI were 71.4% (30/42) and 85.7% (36/42), respectively. Vascularity was detected by DFI in 6 patients who were negative for vascularity on MIBI scintigraphy. Furthermore, DFI detected blood supply in 6 of the 12 patients with undetectable blood supply on CDU. Fisher's exact test revealed that high or low blood flow, as determined by DFI, was significantly associated with detection of feeding vessels in PA by CDU (P < 0.001). CONCLUSIONS: DFI was useful for preoperative detection of PA blood flow.


Asunto(s)
Adenoma , Hiperparatiroidismo Primario , Neoplasias de las Paratiroides , Ultrasonografía Doppler en Color , Humanos , Femenino , Masculino , Persona de Mediana Edad , Neoplasias de las Paratiroides/diagnóstico por imagen , Neoplasias de las Paratiroides/cirugía , Neoplasias de las Paratiroides/complicaciones , Hiperparatiroidismo Primario/diagnóstico por imagen , Hiperparatiroidismo Primario/cirugía , Anciano , Ultrasonografía Doppler en Color/métodos , Adenoma/diagnóstico por imagen , Cintigrafía/métodos , Tecnecio Tc 99m Sestamibi , Adulto , Velocidad del Flujo Sanguíneo
10.
Am J Otolaryngol ; 45(4): 104315, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38701728

RESUMEN

PURPOSE: For minimally invasive surgery of parathyroid adenomas, exact localization diagnostics are essential. Main imaging modalities used for diagnostics are sonography, SPECT with/without CT (traditional imaging) and 18F-choline-PET. The aim of our study was to identify predictors for inconclusive SPECT imaging and subsequently determine in which cases 18F-choline-PET is needed. METHODS: Retrospective analysis of 138 patients with histologically confirmed primary hyperparathyroidism (pHPT). After sonography, patients underwent SPECT or SPECT/CT imaging, with subsequent 18F-choline-PET in cases of disconcordant results. Logistic regression analysis was used to identify clinical and laboratory factors predictive for negative SPECT results. RESULTS: Sensitivity rates for sonography, SPECT, SPECT/CT, and choline-PET were 47 %, 49 %, 71.7 %, and 97 %, respectively. Logistic regression revealed lower PTH levels (p < 0.001), presence of structural thyroid disease (p = 0.018), and negative sonography (p < 0.001) as predictive of negative/equivocal SPECT outcome. An additional traditional imaging CT scan to a SPECT enhanced detection odds, as did greater adenoma weight. Urolithiasis, osteoporosis, and calcium values as measurement of activity and duration of disease showed no significant association with the detection rate. Furthermore, our study demonstrated that 18F-choline-PET exhibited remarkable sensitivity in detecting adenomas among patients with negative/equivocal SPECT results. CONCLUSION: Our study reveals potential predictive factors for a negative/equivocal SPECT outcome in pHPT. Identifying these factors might allow minimizing futile SPECT examinations and perhaps encourage timely utilization of 18F-choline-PET imaging. Our study reinforces the clinical significance of 18F-choline-PET, especially in complex cases with disconcordant results by conventional parathyroid imaging methods.


Asunto(s)
Colina , Hiperparatiroidismo Primario , Neoplasias de las Paratiroides , Tomografía Computarizada de Emisión de Fotón Único , Humanos , Hiperparatiroidismo Primario/diagnóstico por imagen , Hiperparatiroidismo Primario/cirugía , Masculino , Femenino , Persona de Mediana Edad , Estudios Retrospectivos , Colina/análogos & derivados , Anciano , Neoplasias de las Paratiroides/diagnóstico por imagen , Neoplasias de las Paratiroides/cirugía , Neoplasias de las Paratiroides/complicaciones , Tomografía Computarizada de Emisión de Fotón Único/métodos , Adenoma/diagnóstico por imagen , Adenoma/cirugía , Tomografía de Emisión de Positrones/métodos , Adulto , Valor Predictivo de las Pruebas , Ultrasonografía/métodos , Sensibilidad y Especificidad , Radioisótopos de Flúor , Radiofármacos
11.
Clin Nucl Med ; 49(8): 774-776, 2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-38778473

RESUMEN

ABSTRACT: 99m Tc-MIBI scintigraphy is a nuclear medicine imaging modality commonly used for the preoperative localization of parathyroid adenomas in patients with hyperparathyroidism. In addition, 99m Tc-MIBI can also be used for imaging various tumors due to its unique mechanism of intracellular accumulation. Here, we introduced a case of a single 99m Tc-MIBI SPECT/CT simultaneously visualized two different malignant tumors, such as papillary thyroid cancer and small cell lung cancer, along with a parathyroid adenoma in a patient with hyperparathyroidism. The clinical usefulness of 99m Tc-MIBI SPECT/CT was also explored by comparing it with 18 F-FDG PET/CT among the three tumors.


Asunto(s)
Fluorodesoxiglucosa F18 , Hiperparatiroidismo , Neoplasias Pulmonares , Neoplasias de las Paratiroides , Tomografía Computarizada por Tomografía de Emisión de Positrones , Tomografía Computarizada por Tomografía Computarizada de Emisión de Fotón Único , Carcinoma Pulmonar de Células Pequeñas , Tecnecio Tc 99m Sestamibi , Cáncer Papilar Tiroideo , Neoplasias de la Tiroides , Humanos , Neoplasias de las Paratiroides/diagnóstico por imagen , Neoplasias de las Paratiroides/complicaciones , Neoplasias de la Tiroides/diagnóstico por imagen , Neoplasias de la Tiroides/complicaciones , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Pulmonares/complicaciones , Carcinoma Pulmonar de Células Pequeñas/diagnóstico por imagen , Carcinoma Pulmonar de Células Pequeñas/complicaciones , Cáncer Papilar Tiroideo/diagnóstico por imagen , Cáncer Papilar Tiroideo/complicaciones , Hiperparatiroidismo/diagnóstico por imagen , Carcinoma Papilar/diagnóstico por imagen , Adenoma/diagnóstico por imagen , Adenoma/complicaciones , Persona de Mediana Edad , Femenino , Masculino
12.
BMC Endocr Disord ; 24(1): 53, 2024 Apr 25.
Artículo en Inglés | MEDLINE | ID: mdl-38664758

RESUMEN

BACKGROUND: There has been a notable shift towards the diagnosis of less severe and asymptomatic primary hyperparathyroidism (PHPT) in developed countries. However, there is a paucity of recent data from sub-Saharan Africa (SSA), and also, no reported data from SSA on the utility of intra-operative parathyroid hormone (IO-PTH) monitoring. In an earlier study from Inkosi Albert Luthuli Central Hospital (IALCH), Durban, South Africa (2003-2009), majority of patients (92.9%) had symptomatic disease. The aim of this study was to evaluate the clinical profile and management outcomes of patients presenting with PHPT at IALCH. METHODS: A retrospective chart review of patients with PHPT attending the Endocrinology clinic at IALCH between July 2009 and December 2021. Clinical presentation, laboratory results, radiologic findings, surgical notes and histology were recorded. RESULTS: Analysis included 110 patients (87% female) with PHPT. Median age at presentation was 57 (44; 67.5) years. Symptomatic disease was present in 62.7% (n:69); 20.9% (n:23) had a history of nephrolithiasis and 7.3% (n:8) presented with previous fragility fractures. Mean serum calcium was 2.87 ± 0.34 mmol/l; median serum-PTH was 23.3 (15.59; 45.38) pmol/l, alkaline phosphatase 117.5 (89; 145.5) U/l and 25-hydroxyvitamin-D 42.9 (33.26; 62.92) nmol/l. Sestamibi scan (n:106 patients) identified an adenoma in 83.02%. Parathyroidectomy was performed on 84 patients with a cure rate of 95.2%. Reasons for conservative management (n:26) included: no current surgical indication (n:7), refusal (n:5) or deferral of surgery (n:5), loss to follow-up (n:5) and assessed as high anaesthetic risk (n:4). IO-PTH measurements performed on 28 patients indicated surgical success in 100%, based on Miami criteria. Histology confirmed adenoma in 88.1%, hyperplasia in 7.1% and carcinoma in 4.8%. Post-operative hypocalcaemia developed in 30 patients (35.7%), of whom, 14 developed hungry bone syndrome (HBS). In multivariate analysis, significant risk factors associated with HBS included male sex (OR 7.01; 95% CI 1.28, 38.39; p 0.025) and elevated pre-operative PTH (OR 1.01; 95% CI 1.00, 1.02; p 0.008). CONCLUSIONS: The proportion of asymptomatic PHPT has increased at this centre over the past decade but symptomatic disease remains the dominant presentation. Parathyroidectomy is curative in the majority of patients. IO-PTH monitoring is valuable in ensuring successful surgery.


Asunto(s)
Hiperparatiroidismo Primario , Paratiroidectomía , Humanos , Hiperparatiroidismo Primario/cirugía , Hiperparatiroidismo Primario/epidemiología , Hiperparatiroidismo Primario/terapia , Hiperparatiroidismo Primario/diagnóstico , Femenino , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Sudáfrica/epidemiología , Adulto , Anciano , Paratiroidectomía/estadística & datos numéricos , Neoplasias de las Paratiroides/cirugía , Neoplasias de las Paratiroides/epidemiología , Neoplasias de las Paratiroides/terapia , Neoplasias de las Paratiroides/complicaciones , Neoplasias de las Paratiroides/patología , Hormona Paratiroidea/sangre , Estudios de Seguimiento , Manejo de la Enfermedad , Resultado del Tratamiento , Pronóstico , Calcio/sangre
13.
Medicina (B Aires) ; 84(2): 342-346, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38683521

RESUMEN

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.


Asunto(s)
Hiperparatiroidismo Primario , Neoplasias de las Paratiroides , Paratiroidectomía , Humanos , Femenino , Embarazo , Hiperparatiroidismo Primario/complicaciones , Hiperparatiroidismo Primario/diagnóstico , Hiperparatiroidismo Primario/cirugía , Hiperparatiroidismo Primario/sangre , Neoplasias de las Paratiroides/complicaciones , Neoplasias de las Paratiroides/cirugía , Neoplasias de las Paratiroides/diagnóstico , Adolescente , Adenoma/complicaciones , Adenoma/cirugía , Adenoma/diagnóstico , Hormona Paratiroidea/sangre , Complicaciones Neoplásicas del Embarazo/cirugía , Complicaciones Neoplásicas del Embarazo/diagnóstico , Complicaciones del Embarazo/diagnóstico , Hiperemesis Gravídica/complicaciones , Hiperemesis Gravídica/diagnóstico , Hipercalcemia/etiología , Hipercalcemia/sangre , Hipercalcemia/diagnóstico , Cesárea
14.
Front Endocrinol (Lausanne) ; 15: 1355916, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38665259

RESUMEN

Introduction: 24-Hydroxylase, encoded by the CYP24A1 gene, is a crucial enzyme involved in the catabolism of vitamin D. Loss-of-function mutations in CYP24A1 result in PTH-independent hypercalcaemia with high levels of 1,25(OH)2D3. The variety of clinical manifestations depends on age, and underlying genetic predisposition mutations can lead to fatal infantile hypercalcaemia among neonates, whereas adult symptoms are usually mild. Aim of the study: We report a rare case of an adult with primary hyperparathyroidism and loss-of-function mutations in the CYP24A1 gene and a review of similar cases. Case presentation: We report the case of a 58-year-old woman diagnosed initially with primary hyperparathyroidism. Preoperatively, the suspected mass adjoining the upper pole of the left lobe of the thyroid gland was found via ultrasonography and confirmed by 99mTc scintigraphy and biopsy as the parathyroid gland. The patient underwent parathyroidectomy (a histopathology report revealed parathyroid adenoma), which led to normocalcaemia. After 10 months, vitamin D supplementation was introduced due to deficiency, and the calcium level remained within the reference range. Two years later, biochemical tests showed recurrence of hypercalcaemia with suppressed parathyroid hormone levels and elevated 1,25(OH)2D3 concentrations. Further investigation excluded the most common causes of PTH-independent hypercalcaemia, such as granulomatous disease, malignancy, and vitamin D intoxication. Subsequently, vitamin D metabolites were measured using LC-MS/MS, which revealed high levels of 25(OH)D3, low levels of 24,25(OH)2D3 and elevated 25(OH)2D3/24,25(OH)2D3 ratios, suggesting a defect in vitamin D catabolism. Molecular analysis of the CYP24A1 gene using the NGS technique revealed two pathogenic variants: p.(Arg396Trp) and p.(Glu143del) (rs114368325 and rs777676129, respectively). Conclusions: The diagnostic process for hypercalcaemia becomes complicated when multiple causes of hypercalcaemia coexist. The measurement of vitamin D metabolites using LC-MS/MS may help to identify carriers of CYP24A1 mutations. Subsequent molecular testing may contribute to establishing the exact frequency of pathogenic variants of the CYP24A1 gene and introducing personalized treatment.


Asunto(s)
Adenoma , Hipercalcemia , Neoplasias de las Paratiroides , Vitamina D3 24-Hidroxilasa , Humanos , Hipercalcemia/genética , Femenino , Persona de Mediana Edad , Vitamina D3 24-Hidroxilasa/genética , Neoplasias de las Paratiroides/genética , Neoplasias de las Paratiroides/complicaciones , Neoplasias de las Paratiroides/cirugía , Neoplasias de las Paratiroides/patología , Adenoma/genética , Adenoma/complicaciones , Adenoma/patología , Mutación , Paratiroidectomía
15.
Cancer Rep (Hoboken) ; 7(4): e2047, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38577726

RESUMEN

BACKGROUND: Parathyroid carcinoma (PC) is a rare endocrine malignancy causing pathological changes such as abnormal bone metabolism, elevated serum calcium, and impaired renal function, and uncontrollable hypercalcemia is the main cause of death in PC patients. The diagnosis of PC is challenging and relying on postoperative histopathology. Radical surgery at the first time is the only effective therapy to cure PC. Hungry bone syndrome (HBS) is a relatively uncommon complication of parathyroidectomy characterized by profound and prolonged hypocalcemia, timely electrolyte monitoring and alternative interventional protocols can prevent symptomatic hypocalcemia. CASE: A 57-year-old man presented with multiple pathological fractures and muscle atrophy as the main symptoms accompanied by bone pain, hypercalcemia, elevated parathyroid hormone (PTH), and an enlarged left-sided neck mass. After consultation of multidisciplinary team, he was treated conservatively with plaster bandage fixation and infusion of intravenous zoledronic acid; and then complete resection of parathyroid mass + removal of involved tissue structures + left thyroid and isthmus lobectomy + lymph node dissection in the VI region in left neck were performed. The postoperative histopathology suggested a diagnosis of parathyroid carcinoma. Calcium and fluid supplementation and oral levothyroxine tablets were given postoperatively. Unexpectedly, the patient's PTH level decreased rapidly at 24 h postoperative, and serum calcium and phosphorus decreased continuously, and he felt numb around perioral sites and fingertips, which considered to be postoperative HBS complicated by parathyroidectomy. Then, a large amount of calcium supplementation and vitamin D were given timely and the patient got better at 1 month postoperatively. At 9-month postoperative, his bone pain and fatigue were significantly relieved compared with before with calcium, phosphorus, and PTH levels at normal range. CONCLUSION: The possibility of parathyroid disease, particularly PC, should be considered in the presence of multiple pathological fractures, muscle atrophy, generalized bone pain, hypercalcemia, and clear neck mass. Radical resection of the tumor lesions at the first surgery is a key element affecting the prognosis of PC, and the effective management of preoperative hypercalcemia and postoperative HBS is also of great significance for improving prognosis.


Asunto(s)
Fracturas Espontáneas , Hipercalcemia , Hipocalcemia , Neoplasias de las Paratiroides , Masculino , Humanos , Persona de Mediana Edad , Hipocalcemia/etiología , Hipocalcemia/complicaciones , Neoplasias de las Paratiroides/complicaciones , Neoplasias de las Paratiroides/diagnóstico , Neoplasias de las Paratiroides/cirugía , Calcio , Hipercalcemia/complicaciones , Fracturas Espontáneas/complicaciones , Fósforo , Atrofia Muscular/complicaciones , Dolor
16.
EBioMedicine ; 102: 105053, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38471398

RESUMEN

BACKGROUND: To date, because of the difficulty in obtaining normal parathyroid gland samples in human or in animal models, our understanding of this last-discovered organ remains limited. METHODS: In the present study, we performed a single-cell transcriptome analysis of six normal parathyroid and eight parathyroid adenoma samples using 10 × Genomics platform. FINDINGS: We have provided a detailed expression atlas of parathyroid endocrine cells. Interestingly, we found an exceptional high expression levels of CD4 and CD226 in parathyroid endocrine cells, which were even higher than those in lymphocytes. This unusual expression of lymphocyte markers in parathyroid endocrine cells was associated with the depletion of CD4 T cells in normal parathyroid glands. Moreover, CD4 and CD226 expression in endocrine cells was significantly decreased in parathyroid adenomas, which was associated with a significant increase in Treg counts. Finally, along the developmental trajectory, we discovered the loss of POMC, ART5, and CES1 expression as the earliest signature of parathyroid hyperplasia. INTERPRETATION: We propose that the loss of CD4 and CD226 expression in parathyroid endocrine cells, coupled with an elevated number of Treg cells, could be linked to the pathogenesis of parathyroid adenoma. Our data also offer valuable information for understanding the noncanonical function of CD4 molecule. FUNDING: This work was supported by the National Key R&D Program of China (2022YFA0806100), National Natural Science Foundation of China (82130025, 82270922, 31970636, 32211530422), Shandong Provincial Natural Science Foundation of China (ZR2020ZD14), Innovation Team of Jinan (2021GXRC048) and the Outstanding University Driven by Talents Program and Academic Promotion Program of Shandong First Medical University (2019LJ007).


Asunto(s)
Glándulas Paratiroides , Neoplasias de las Paratiroides , Humanos , Glándulas Paratiroides/metabolismo , Glándulas Paratiroides/patología , Neoplasias de las Paratiroides/genética , Neoplasias de las Paratiroides/complicaciones , Neoplasias de las Paratiroides/patología , Regulación hacia Abajo , Carcinogénesis/patología , Transformación Celular Neoplásica/metabolismo , Hiperplasia/patología , Linfocitos/metabolismo
18.
Endocr Pract ; 30(6): 564-568, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38556080

RESUMEN

OBJECTIVE: In contrast to adults, primary hyperparathyroidism (PHPT) in children and adolescents is a rare endocrine disorder. METHODS: A retrospective review of PHPT cases between 2005 and 2022 from a single tertiary university medical center, including clinical signs and symptoms, laboratory findings, radiological evaluation, treatment, and postoperative complications. RESULTS: Ten children (mean age at diagnosis 16.3 ± 1.3 years) were diagnosed with PHPT. All patients were in late pubertal stages without sex predominance and 8 were symptomatic. Mean calcium level was 13.6 ± 2.5 mg/dL, and mean parathyroid hormone levels were 204.8 ± 163.1 pg/mL. Parathyroid adenoma was confirmed by the postsurgical pathology results. CONCLUSIONS: PHPT in children and adolescents is often symptomatic and more severe than adults. The main cause is single parathyroid adenoma. Associated hypercalcemic syndromes were not found. Patients were cured after surgical removal of the adenoma without significant postoperative complications and no recurrence during 10.4 ± 5.9 years follow-up.


Asunto(s)
Adenoma , Hiperparatiroidismo Primario , Neoplasias de las Paratiroides , Humanos , Adolescente , Neoplasias de las Paratiroides/complicaciones , Neoplasias de las Paratiroides/cirugía , Neoplasias de las Paratiroides/diagnóstico , Femenino , Masculino , Hiperparatiroidismo Primario/cirugía , Hiperparatiroidismo Primario/diagnóstico , Hiperparatiroidismo Primario/etiología , Hiperparatiroidismo Primario/complicaciones , Estudios Retrospectivos , Adenoma/complicaciones , Adenoma/cirugía , Adenoma/diagnóstico , Niño , Hormona Paratiroidea/sangre
19.
Am Surg ; 90(7): 1919-1921, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38520268

RESUMEN

Ectopic parathyroid adenomas are an uncommon etiology of primary hyperparathyroidism. We present a case of a patient admitted to the hospital with severe hypercalcemia and elevated parathyroid hormone levels, in whom imaging revealed two distinct parathyroid masses in the prevertebral space, representing a rare and atypical location for parathyroid tissue. This case highlights the importance of considering ectopic parathyroid adenomas as a potential cause of hyperparathyroidism and discusses the diagnostic challenges and management strategies associated with such cases.


Asunto(s)
Adenoma , Neoplasias de las Paratiroides , Humanos , Neoplasias de las Paratiroides/cirugía , Neoplasias de las Paratiroides/complicaciones , Neoplasias de las Paratiroides/diagnóstico , Adenoma/cirugía , Adenoma/complicaciones , Adenoma/patología , Coristoma/complicaciones , Coristoma/cirugía , Coristoma/diagnóstico , Femenino , Hiperparatiroidismo Primario/etiología , Hiperparatiroidismo Primario/cirugía , Hiperparatiroidismo Primario/diagnóstico , Hiperparatiroidismo Primario/complicaciones , Persona de Mediana Edad , Masculino , Glándulas Paratiroides/diagnóstico por imagen , Glándulas Paratiroides/patología , Paratiroidectomía , Hipercalcemia/etiología
20.
Medicina (Kaunas) ; 60(3)2024 Mar 19.
Artículo en Inglés | MEDLINE | ID: mdl-38541233

RESUMEN

Background and Objectives: Primary hyperparathyroidism (pHPT) is a common endocrine disorder caused by excessive production of parathyroid hormone (PTH) leading to elevated calcium levels. Diagnosis is primarily based on biochemical evaluation, and surgery is the curative treatment. Imaging techniques like ultrasound and Tc-99m Sestamibi scintigraphy are used for localization, but selective Internal Jugular Venous (SVS) becomes valuable in cases of inconclusive or conflicting results. This study evaluated the diagnostic efficacy of SVS for localizing parathyroid adenomas in cases where non-invasive radiological diagnostic methods yielded inconclusive results or negative findings despite clinical symptoms suggestive of pHPT. Materials and Methods: In this retrospective study, a total of 28 patients diagnosed with pHPT underwent SVS at a tertiary center known for receiving referrals from 2017 to 2022. The diagnoses were confirmed through biochemical analysis. The SVS results in 22 patients were compared with non-invasive imaging methods, including ultrasound, scintigraphy, and computed tomography with/without contrast material. SVS was indicated when at least two non-invasive diagnostic procedures failed to clearly localize the parathyroid glands or provided ambiguous results. Results: SVS demonstrated higher sensitivity for localizing parathyroid adenomas compared to non-invasive imaging methods, accurately lateralizing the adenoma in 68.18% of cases. Among the SVS findings, 31.8% of patients had negative results, with 9.1% not having clinically proven parathyroid adenoma, while 22.7% had false negative SVS findings but were later confirmed to have adenoma during surgery. Ultrasound correctly identified the location in 45.45% of cases, CT in 27.27%, and scintigraphy in 40.9%. Conclusions: SVS is a valuable diagnostic tool for accurately localizing parathyroid adenomas in patients with inconclusive non-invasive imaging results. It aids in targeted surgical interventions, contributing to improved management and treatment outcomes in primary hyperparathyroidism.


Asunto(s)
Adenoma , Hiperparatiroidismo Primario , Neoplasias de las Paratiroides , Humanos , Neoplasias de las Paratiroides/complicaciones , Neoplasias de las Paratiroides/diagnóstico , Neoplasias de las Paratiroides/cirugía , Hiperparatiroidismo Primario/diagnóstico , Hiperparatiroidismo Primario/cirugía , Estudios Retrospectivos , Glándulas Paratiroides , Tecnecio Tc 99m Sestamibi , Adenoma/complicaciones , Adenoma/diagnóstico , Adenoma/cirugía
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