Neoplasia endocrina múltiple tipo 1 en paciente con diagnóstico de nesidioblastosis. Presentación de un caso

Las neoplasias endocrinas múltiples engloban una serie de síndromes caracterizados por su origen genético y la afectación de una o más glándulas. Se describe el caso de un paciente masculino, de 23 años, con antecedentes de salud de nesidioblastosis diagnosticado a los 16 años de edad, quien acudió al Hospital General Docente Ambato por presentar convulsiones tónico clónicas, e hipoglucemia severa con posterior estatus epiléptico. Los estudios de laboratorio mostraron hiperparatiroidismo primario, y los de imagen identificaron lesiones sugerentes de adenoma paratiroideo e insulinoma de cabeza de páncreas. Después de analizar el caso, se identificaron dos criterios para plantear una neoplasia endocrina múltiple tipo 1: presencia de insulinoma e hiperparatiroidismo primario. Además de tratamiento con bifosfonato, se planificó interconsulta con el servicio de Genética, para estudio del paciente y familiares; y con Cirugía General, para programación de resolución quirúrgica. Debido a la poca frecuencia de esta enfermedad, resulta de interés describir el caso, con el objetivo de exponer las principales manifestaciones clínicas y conducta a seguir. Constituye una prioridad el diagnóstico de su causa en cada paciente.

Multiple endocrine neoplasias encompass a series of syndromes characterized by their genetic origin and the involvement of one or more glands. A 23-years-old male patient with a health history of nesidioblastosis diagnosed at 16 years of age, who attended the Ambato General Teaching Hospital with tonic-clonic seizures and severe hypoglycemia with subsequent epileptic status, is described. Laboratory studies showed primary hyperparathyroidism, and imaging identified lesions suggestive of parathyroid adenoma and insulinoma of the head of the pancreas. After analyzing the case, two criteria were identified to suggest multiple endocrine neoplasia type 1: presence of insulinoma and primary hyperparathyroidism. In addition to treatment with bisphosphonate, consultation with the Genetics service was planned for study of the patient and family members; and with General Surgery, for scheduling surgical resolution. Due to the infrequency of this disease, it is of interest to describe the case, with the aim of exposing the main clinical manifestations and conduct to follow. Diagnosing its cause in each patient is a priority.

Postoperative longitudinal changes of serum calcium level and its influencing factors in patients with primary hyperparathyroidism / 中华普通外科杂志

Objective:To compare the changes of serum calcium level before and after surgical resection in patients with primary hyperparathyroidism.Methods:Two hundred and seventy-one patients with primary hyperparathyroidism were enrolled from Dec 1992 to Dec 2020 in Beijing Jishuitan Hospital. Serum calcium concentrations were measured before operation, 20 min during surgery, then 2 weeks 1-6 months , 7-12 months and 1 year respectively after operation. The baseline data of postoperative serum calcium such as sex, age, other genetic endocrine diseases, osteopathia and urolithiasis were calculated. The generalized estimation equation was used to analyze the changes of serum calcium in different types of patients before and after operation.Results:The most common postoperative hypocalcemia occurred within 2 weeks, and it occurred frequently half a year after surgery. There was no significant difference in blood calcium between male patients ( t=0.875, P=1.000) and patients with bone lesions ( t=0.034, P=3.049) from 1 to 6 months after surgery and 2 weeks after surgery. Blood calcium level in patients aged 15-35 years old from 1 to 6 months ( t=0.239, P=1.000) , from 7 to 12 months ( t=1.380, P=0.935) and 2 weeks after surgery was not statistically different. The change of bone mineral density was correlated with the change of blood calcium after operation ( F=6.895, P=0.004). Conclusions:The incidence of hypocalcemia was the highest in patients with hyperparathyroidism 2 weeks after surgery, and the blood calcium level was stable within the normal range 1 year later. The blood calcium value of male patients was still at a lower level than that of female patients within six months after surgery. In patients with bone disease, the blood calcium value was lower and recovered slowly 2 weeks after surgery. The blood calcium value of patients aged 15-35 was at a low level within 1 year after surgery.

Familial hypocalciuric hypercalcemia as a differential diagnosis of primary hyperparathyroidism with negative images / Hipercalcemia hipocalciúrica familiar como diagnóstico diferencial de hiperparatiroidismo primario con imágenes negativas / Hipercalcemia hipocalciúrica familiar como diagnóstico diferencial de hiperparatireoidismo primário com imagens negativas

Introduction. Familial hypocalciuric hypercalcemia is a rare inherited calcium metabolism disorder in which an alteration of the parathyroid hormone secretion set-point causes hypercalcemia with relative hypocalciuria. Some data suggest that its prevalence is around 74.1 per 100,000 inhabitants. Often, patients are asymptomatic. However, they can develop mild symptoms and an overactive parathyroid adenoma, its main differential diagnosis. The objective was to describe a patient's case and highlight the importance of clinical suspicion and diagnosis to avoid unnecessary surgical neck explorations for parathyroid adenomas. Case report. This is the case of a 40-year-old man with a biochemical profile compatible with primary hyperparathyroidism with anatomical and functional images negative for adenoma and a calcium/creatinine clearance ratio below 0.001, considering familial hypocalciuric hypercalcemia. Genetic studies evidence a mutation in the calcium sensor receptor gene and confirm the diagnosis. Discussion. Familial hypocalciuric hypercalcemia's main differential diagnosis is an overactive parathyroid adenoma. For both, mild or no symptoms may be present; serum calcium exceeds the upper limit, and parathormone is more than 25pg/ml. The calcium/creatinine clearance ratio should be used to differentiate one from the other and avoid unnecessary surgical neck explorations. Besides the lack of information on this topic, evidence supports the use of calcimimetics to treat symptomatic hypercalcemia. Conclusions. Patients with mild hypercalcemia with parathyroid hormone readings above 25pg/ml and a calcium/creatinine clearance ratio below 0.001, or patients with primary hyperparathyroidism with negative imaging, should not undergo surgical neck explorations. In these cases, familial hypocalciuric hypercalcemia is a reliable diagnosis; Cinacalcet may be administered in cases of symptomatic hypercalcemia.

Introducción. La hipercalcemia hipocalciúrica familiar es un trastorno hereditario poco común del metabolismo del calcio en donde una alteración del punto de ajuste de la secreción de hormona paratiroidea ocasiona hipercalcemia con hipocalciuria relativa. Algunos datos sugieren que su prevalencia es de alrededor de 74.1 por 100,000 habitantes. Los pacientes muchas veces son asintomáticos. Sin embargo, pueden desarrollar síntomas leves y un adenoma paratiroideo hiperactivo, que representa su principal diagnóstico diferencial. El objetivo fue describir el caso de un paciente y resaltar la importancia de la sospecha y el diagnóstico clínico para evitar exploraciones quirúrgicas cervicales innecesarias en búsqueda de adenomas paratiroideos. Reporte de caso. Este es el caso de un hombre de 40 años con un perfil bioquímico compatible con hiperparatiroidismo primario, con imágenes anatómicas y funcionales negativas para adenoma, además de una relación de depuración de calcio/creatinina menor a 0.001, con consideración de hipercalcemia hipocalciúrica familiar. Los estudios genéticos evidencian una mutación en el gen del receptor sensor del calcio y confirman el diagnóstico. Discusión. El principal diagnóstico diferencial de la hipercalcemia hipocalciúrica familiar es un adenoma paratiroideo hiperactivo. En ambos casos, es posible que no haya síntomas o que estos sean leves; el calcio sérico excede al límite superior, y la paratohormona es mayor de 25pg/ml. Se debe usar la relación de depuración de calcio/creatinina para diferenciar entre estas patologías y evitar exploraciones quirúrgicas cervicales innecesarias. Aparte de la falta de información sobre este tema, la evidencia apoya el uso de calciomiméticos para tratar la hipercalcemia sintomática. Conclusiones. Los pacientes con hipercalcemia leve, con valores de hormona paratiroidea mayores de 25pg/ml y con una relación de depuración de calcio/creatinina menor de 0.001, o los pacientes con hiperparatiroidismo primario con imágenes negativas, no deben ser sometidos a exploraciones quirúrgicas cervicales. En estos casos, la hipercalcemia hipocalciúrica familiar representa un diagnóstico confiable; se puede administrar Cinacalcet en casos de hipercalcemia sintomática.

Introdução. A hipercalcemia hipocalciúrica familiar é um distúrbio hereditário raro do metabolismo do cálcio, no qual uma alteração no ponto de ajuste da secreção do hormônio da paratireóide causa hipercalcemia com hipocalciúria relativa. Alguns dados sugerem que sua prevalência gira em torno de 74.1 por 100,000 habitantes. Os pacientes geralmente são assintomáticos. No entanto, eles podem desenvolver sintomas leves e um adenoma de paratireoide hiperativo, que representa seu principal diagnóstico diferencial. O objetivo foi descrever o caso de um paciente e destacar a importância da suspeita clínica e do diagnóstico para evitar exploração cirúrgica cervical desnecessária em busca de adenomas de paratireoide. Relato de caso. É o caso de um homem de 40 anos com perfil bioquímico compatível com hiperparatireoidismo primário, com imagens anatômicas e funcionais negativas para adenoma, além de relação depuração de cálcio/creatinina menor que 0.001, considerando hipercalcemia hipocalciúrica familiar. Estudos genéticos revelam uma mutação no gene receptor da sensibilidade ao cálcio e confirmam o diagnóstico. Discussão. O principal diagnóstico diferencial da hipercalcemia hipocalciúrica familiar é um adenoma de paratireoide hiperativo. Em ambos os casos, os sintomas podem estar ausentes ou leves; o cálcio sérico excede o limite superior e o hormônio da paratireóide é superior a 25pg/ml. A relação depuração de cálcio/creatinina deve ser usada para diferenciar entre essas patologias e evitar exploração cirúrgica cervical desnecessária. Além da falta de informações sobre esta questão, as evidências apoiam o uso de calcimiméticos para tratar a hipercalcemia sintomática. Conclusões. Pacientes com hipercalcemia leve, com valores de hormônio da paratireóide maiores que 25pg/ml e uma relação de depuração de cálcio/creatinina menor que 0.001, ou pacientes com hiperparatireoidismo primário com imagens negativas, não devem ser submetidos a exploração cirúrgica cervical. Nesses casos, a hipercalcemia hipocalciúrica familiar representa um diagnóstico confiável; Cinacalcet pode ser administrado em casos de hipercalcemia sintomática.

Hiperparatiroidismo primario por adenoma gigante de paratiroides. Abordaje quirúrgico selectivo / Primary hyperparathyroidism caused by giant parathyroid adenoma. Selective surgical approach / Hiperparatireoidismo primário devido a um adenoma gigante da paratireoide. Abordagem cirúrgica seletiva

Resumen: Introducción: el hiperparatiroidismo primario por un adenoma gigante de paratiroides es infrecuente. Los adenomas de mayor tamaño reportados ocurrieron sobre paratiroides ectópicas (mediastinales). Comparte con el carcinoma su gran tamaño y elevadas cifras de calcemia y de hormona paratiroidea, hecho que dificulta el diagnóstico. Su tratamiento quirúrgico es la paratiroidectomía mediante una cervicotomía transversa centrada en la región infrahioidea. Objetivo: presentar un caso clínico de hiperparatiroidismo primario por un adenoma gigante de paratiroides tratado quirúrgicamente mediante un abordaje selectivo. Caso clínico: paciente de 53 años, sexo femenino, con antecedentes de litiasis ureteral, dolores óseos y tumoración infrahiodea de 4 cm de diámetro que imagenológicamente presentó las características de un adenoma paratiroideo inferior izquierdo. La valoración funcional confirmó hiperparatiroidismo. Con diagnóstico de hiperparatiroidismo primario por adenoma gigante se trató quirúrgicamente a través de una incisión pequeña y centrada en la tumoración, realizándose la paratiroidectomía inferior izquierda con la cual remitió la sintomatología y normalizó la funcionalidad paratiroidea. Discusión: el hiperparatiroidismo primario por adenoma gigante de paratiroides tiene indicación quirúrgica y es curativo. El caso presentado demuestra la factibilidad y seguridad de un abordaje selectivo a lo que suma una menor afectación cosmética, dejando indemne la logia tiroidea contralateral ante futuras cirugías sobre ésta.

Summary: Introduction: primary hyperparathyroidism caused by giant parathyroid adenoma is a rather unusual condition. Reported large adenomas occurred in ectopic parathyroid glands (mediastinal). Just like carcinomas, they are large, present high calcemia and parathyroid hormone values, what complicates diagnosis. Surgical treatment consists in parathyroidectomy by means of transversal cervicotomy around the infrahyoid region. Objective: the study presents the clinical case of primary hyperparathyroidism caused by giant parathyroid adenoma that was treated by selective surgery approach. Clinical case: 53 year-old female patient with a history of uretheral lithiasis, bone pain and 4-cm-diameter infrahyoid tumor. Imagenology studies revealed the characteristics of lower left parathyroid adenoma. Functional assessment confirmed hyperparathyroidism. Upon the diagnosis of primary hyperparathyroidism caused by giant parathyroid adenoma it was surgically addressed by means of a small cut around the tumour and performing a lower left parathyroidectomy, what resulted in the remission of symptoms and normalized parathyroid functionality. Discussion: primary hyperparathyroidism caused by giant parathyroid adenoma has an indication for surgery and is therapeutic. The case presented shows the feasibility and safety of a selective approach, as well as its smaller cosmetic harm, managing to keep the contralateral thyroid loggia intact, in view of future surgeries involving it.

Resumo: Introdução: o hiperparatireoidismo primário devido a adenoma de paratireoide gigante é raro. Os maiores adenomas relatados ocorreram em paratireoides ectópicas (mediastinais). Compartilha com o carcinoma seu grande tamanho e altos níveis de cálcio e hormônio da paratireoide, o que torna o diagnóstico difícil. Seu tratamento cirúrgico é a paratireoidectomia por meio de cervicotomia transversa com foco na região infra-hióidea. Objetivo: apresentar um caso clínico de hiperparatireoidismo primário por adenoma gigante da paratireoide tratado cirurgicamente por abordagem seletiva. Caso clínico: paciente do sexo feminino, 53 anos, com história de litíase ureteral, dor óssea e tumor infra-hióideo de 4 cm de diâmetro que apresentava características de imagem de adenoma de paratireoide inferior esquerdo. A avaliação funcional confirmou hiperparatireoidismo. Com diagnóstico de hiperparatireoidismo primário por adenoma gigante, foi tratada cirurgicamente por meio de pequena incisão focada no tumor, realizando paratireoidectomia inferior esquerda com remissão dos sintomas e normalização da funcionalidade da paratireoide. Discussão: o hiperparatireoidismo primário devido ao adenoma gigante da paratireoide tem indicação cirúrgica e é curativo. O caso apresentado demonstra a viabilidade e segurança de uma abordagem seletiva que apresenta um menor envolvimento estético, deixando o espaço contralateral da tireoide sem danos para futuras cirurgias.

Value of ultrasonography, radionuclide imaging and CT in preoperative location diagnosis of primary hyperparathyroidism / 中华普通外科杂志

Objectiv:To evaluate ultrasound, radionuclide imaging and CT in preoperative localization diagnosis of primary hyperparathyroidism (PHPT).Method:A total of 170 PHPT patients admitted to the hospital between Jan 1992 and Dec 2020 were analyzed retrospectively. The preoperative localization diagnostic efficacy of ultrasonography, radionuclide and CT alone and in combination was compared in groups.Results:The overall sensitivity of ultrasound, radionuclide and CT were 82.13%,80.43% and 75.74%. For normal positioned parathyroid adenoma: as for sensitivity of location diagnosis, ultrasound (86.67%) was higher than radionuclide (81.82%, P<0.05) and CT (80.59%, P<0.05), ultrasound/CT parallel test (94.70%, P<0.05) was higher than ultrasound alone. For specificity of location diagnosis, radionuclide (97.78%) was higher than ultrasound (91.62%) and CT (93.39%), both ultrasound/radionuclide series tests (99.00%, P<0.001)and ultrasound/CT series tests (96.94%, P<0.001) were higher than ultrasound alone. In case of ectopic parathyroid adenoma and parathyroid hyperplasia: the sensitivity and specificity of radionuclide seemed higher than ultrasound and CT. Conclusions:Ultrasound is the first choice for preoperative location diagnosis of PHPT. Ultrasound combined with radionuclide or CT can significantly improve the diagnostic efficiency of parathyroid lesions.

Intraoperative Parathyroid Hormone Monitoring in the Surgical Management of Sporadic Primary Hyperparathyroidism

Intraoperative parathyroid hormone monitoring (IPM) has been shown to be a useful adjunct during parathyroidectomy to ensure operative success at many specialized medical centers worldwide. Using the Miami or “>50% intraoperative PTH drop” criterion, IPM confirms the complete excision of all hyperfunctioning parathyroid tissue before the operation is finished, and helps guide the surgeon to identify additional hyperfunctioning parathyroid glands that may necessitate further extensive neck exploration when intraoperative parathyroid hormone (PTH) levels do not drop sufficiently. The intraoperative PTH assay is also used to differentiate parathyroid from non-parathyroid tissues during operations using fine needle aspiration samples and to lateralize the side of the neck harboring the hypersecreting parathyroid through differential jugular venous sampling when preoperative localization studies are negative or equivocal. The use of IPM underscores the recognition and understanding of sporadic primary hyperparathyroidism (SPHPT) as a disease of function rather than form, where the surgeon is better equipped to treat such patients with quantitative instead of qualitative information for durable long-term operative success. There has been a significant paradigm shift over the last 2 decades from conventional to focused parathyroidectomy guided by IPM. This approach has proven to be a safe and rapid operation requiring minimal dissection performed in an ambulatory setting for the treatment of SPHPT.

Recent progress in diagnosis and treatment of hyperparathyroidism / 国际外科学杂志

Hyperparathyroidism is a secondary or primary endocrine disorder.In recent years,the incidence of hyperparathyroidism in China is increasing.Clinical manifestations tend to be multi-systemic injuries,which poses challenges for patients and clinicians.At the same time,with the advancement of medical science and technology,new detection means and innovative therapies are emerging.In this paper,recent progress of diagnosis and treatments is reviewed to provide basis for clinical work.

Retrospective analysis of primary hyperparathyroidism combined with papillary thyroid carcinoma / 中国医师进修杂志

Objective To evaluate the differences of the malignant rate of thyroid nodules between primary hyperparathyroidism (PHPT) patients and health examination population, and analyze the clinical characteristics of PHPT combined with papillary thyroid carcinoma (PTC). Methods The clinical data of 158 PHPT patients who had underwent parathyroidectomy and 468 thyroid nodule patients who had underwent fine-needle aspiration (FNA) from 2009 to 2014 were retrospectively analyzed, and the detection rate of PTC in patients with thyroid nodule was recorded. Results Of the 158 patients with PHPT, 61 patients had thyroid nodules, the incidence of PHPT with thyroid nodule was 38.6% (61/158), and postoperative pathologically proved PTC was in 12 cases (19.7%). Of the 468 thyroid nodule patients who had underwent FNA, postoperative pathologically proved PTC was in 19 patients (4.1% ). The malignant rate of thyroid nodules in PHPT patients was significantly higher than that in health examination population (P＜0.01). The adjusted serum calcium in patients with PHPT combined with PCT was significantly lower than that in patients with PHPT combined with benign thyroid nodules and patients with PHPT without thyroid nodules: (2.63 ± 0.26) mmol/L vs. (2.92 ± 0.32) and (2.93 ± 0.47) mmol/L, and there was statistical difference (P＜0.05). Conclusions The malignant rate of thyroid nodules in PHPT patients is significantly higher than that in patients from health examination population, which suggests that PHPT might be a risk factor for the malignancy of thyroid nodules. A lower level of serum calcium may predict the existence of PCT in PHPT patients with thyroid nodules.

Carcinoma de paratireoide: um relato de caso / Parathyroid carcinoma: case report

O carcinoma de paratireoide (CP) constitui entidade patológica incomum e detentora de peculiaridades propedêutico-terapêuticas. Em geral, apresenta-se como hiperparatireoidismo primário sintomático, no qual corresponde a somente 1% nesse subgrupo. O diagnóstico de CP é difícil, tanto clínico quanto histológico, devido à inconstância de critérios. Laboratorialmente, é comum apresentar hipercalcemia e PTH bastante acima do valor de referência. A cirurgia é o único tratamento curativo e efetivo para o carcinoma de paratireoide. Relato de caso: Paciente M.P.R.L., 48 anos, sexo feminino, melanodérmica, natural e procedente de Felisburgo ­ MG. Evoluíra há 02 anos com fraqueza progressiva, anemia, disfunção renal, dores crônicas e perda ponderal (cerca de 15 kg nos últimos cinco meses), associada a hipercalcemia PTH-dependente e declínio da função renal. Estudo ultrassonográfico (USG) de região cervical demonstrou presença de dois nódulos tireoideanos e cintilografia de paratireoides sem evidências de hiperplasia ou adenoma das glândulas. Foi admitida no Hospital Santa Casa de Belo Horizonte para seguimento propedêutico e terapêutico do quadro apresentado (AU)

Parathyroid carcinoma (PC) is an uncommon pathology which has propaedeutic and therapeutic peculiarities. In general, it presents as symptomatic primary hyperparathyroidism, that corresponds to only 1% in this subgroup. Both the clinical and histological diagnosis of PC are difficult due to inconsistent criteria. Laboratorial exams commonly present hypercalcemia and PTH well-above the reference value. Surgery is the only curative and effective treatment for parathyroid carcinoma. Case report: Patient M.P.R.L., 48 years old, female, melanodermic, native and from Felisburgo - MG. The disease had been progressing for 2 years with progressive weakness, anemia, renal dysfunction, chronic pain and weight loss (about 15 kg in last five months), associated with PTH-dependent hypercalcemia and renal function decline. A cervical study showed the presence of two thyroid nodules whereas a parathyroid scintigraphy showed no evidence of glands hyperplasia or adenoma. She was admitted to the Santa Casa Hospital of Belo Horizonte for a propaedeutic and therapeutic management of the presented profile. (AU)

Litiasis vesical gigante en un paciente con hiperparatiroidismo primario: reporte de caso / Giant bladder lithiasis in a patient with primary hyperparathyroidism: report of a case

Se reporta el caso de un paciente con litiasis vesical gigante e hiperparatiroidismo primario. El hiperparatiroidismo primario se caracteriza por la producción autónoma de parathormonona, presentando hipercalcemia o calcio sérico normal-alto, con valores séricos de hormona paratiroidea elevados. El hiperparatiroidismo primario siempre debe ser tenido en cuenta en pacientes con historia de cálculos renales, nefrocalcinosis, dolor óseo, fracturas patológicas y resorción subperióstica. Se presenta caso de paciente masculino de 16 años de edad con antecedente de lito transuretral que acude a la emergencia por hematuria macroscópica y dolor abdominal suprapúbico. Se le realizó radiografía simple de pelvis, la que confirmó la presencia de litiasis vesical de grandes proporciones. Se reportó nivel de hormona paratiroidea de 335 pg/ml. Los pacientes con historia de cálculos de vías urinarias deben ser estudiados por patologías paratiroideas

We report the case of a patient with giant bladder lithiasis and primary hyperparathyroidism. This latter condition characterizes itself by the autonomous production of parathyroid hormone (PTH), leading to hypercalcemia or normal or elevated serum calcium levels, and there are also high values of PTH. Primary hyperparathyroidism must always be taken into account in patients with history of renal calculi, nephrocalcinosis, bone pain, pathological fractures, and subperiosteal reaction. The case is a 16-year old male patient with history of a previous transurethral procedure, who presented in the emergency room with macroscopic hematuria and suprapubic abdominal pain. A simple pelvis X-ray film was taken, which confirmed the presence of a large bladder calculus. The parathyroid hormone value was 335 pg/mL. Patients with history of renal calculi must be studied for determining the presence of parathyroid pathological conditions

Pregnancy with primary hyperparathyroidism: analysis of five cases / 中华围产医学杂志

Objective To study the clinical presentations,diagnosis and managements of primary hyperparathyroidism (pHPT) in pregnancy.Methods A total of five cases of pHPT in pregnancy were enrolled from January 2005 to December 2014 in Peking Union Medical College Hospital.Their clinical presentations,managements,maternal-fetal complications and pregnancy outcomes were retrospectively analyzed.Results The median age was 32 (29,41) years.Of the five cases,three were diagnosed in the second trimester,one was before pregnancy and one was after delivery.Most of the clinical symptoms were nonspecific to pHPT,such as nausea,vomiting and loss of appetite.Frequent urination and nocturia occurred in one;unconsciousness and manifestations of acute pancreatitis and eclampsia relevant symptoms were complained of by one.The common maternal complications were nephrolithiasis and hydronephrosis (3/5),osteoporosis (2/5),anemia (2/5) and kaliopenia (2/5),while the severe complications were hypercalcemic crisis (2/5),acute pancreatitis (1/5),eclampsia (1/5),HELLP (hemolysis,elevated liver enzymes and low platelets) syndrome (1/5),disscminated intravascular coagulation (DIC) (1/5),cerebral infarction (1/5) and intrauterine fetal death of one twin (1/5).The median level of calcium in serum samples was 3.70 (2.78,4.50) mmol/L;the median level of parathyroid hormone (PTH) in serum samples was 294 (151,634) pg/ml.All of the five cases were positive for parathyroid ultrasonography.Four cases received parathyroid radionuclide imaging and had positive results.One asymptomatic patient received no specific treatment,whereas the neonate presented with hypocalcemia after birth.Two cases received surgical resections in the second trimester;one of them had a live birth without fetal complication,while the other had induced abortion.Two cases received postpartum surgery;one asymptomatic patient had a live birth without fetal complication,whilc thc other with twin pregnancy suffered stillbirths (one intrauterine fetal death and one neonatal death).Pathologic diagnosis were solitary parathyroid adenomas in four cases who received surgery.Their operations were effective except that one case,which was improved after treatment,was complicated with secondary hypoparathyroidism.Conclusions The symptoms of pHPT in pregnancy are often nonspecific,but it can cause maternal and fetal morbidity and mortality.Early diagnosis of pHPT,followed by appropriate managements,has been shown to significantly reduce the complications.Surgical management should be a safe and effective choice.

The clinical analysis of preventable reoperation for primary hyperparathyroidism / 中华外科杂志

Objective@#To discuss the diagnosis, preoperative imaging and surgical technique of patients who underwent reoperation for persistent hyperparathyroidism.@*Methods@#A prospective database about primary hyperparathyroidism in Department of General Surgery, Peking Union Medical College Hospital was searched for the patients who underwent reoperation for persistent hyperparathyroidism from January 2009 to December 2016. The information about the initial operation, preoperative imaging study and result of reoperations were collected and reviewed. A total of 58 patients underwent reoperation for hyperparathyroidism. Eleven of these patients were referred to this institute for reoperation after missing single parathyroid lesion in the initial parathyroidectomy. Nine patients were female, and the mean patient age at reoperation was 54.9 years.@*Results@#For this group, the accuracy of ultrasound neck scan and sestamibi scintigraphy was 10/11 in identifying diseased parathyroid gland before reoperation. Combined with enhanced CT and SPECT, all parathyroid lesions were localized before reoperations. With general anesthesia or cervical plexus block, all diseased parathyroid glands were removed in the reoperations. No signs of hyperparathyroidism appeared during follow-up.@*Conclusions@#The initial surgery for primary hyperparathyroidism should be performed in experienced center to avoid reoperations. Combining preoperative localization and cervical exploration will help to increase the success rate of reoperation.

Synchronous parathyroid carcinoma and papillary thyroid carcinoma in a patient with long-standing schizophrenia

No abstract available.

Incremental value of 99Tcm-MIBI SPECT/CT imaging on the preoperative diagnosis of primary hyperparathyroidism / 中华核医学与分子影像杂志

Objective To investigate the incremental value of 99Tcm-MIBI SPECT/CT imaging in the preoperative diagnosis of PHPT.Methods Forty-one patients (13 males,28 females,age range:14-82 (50.0± 13.2) years)with PHPT were retrospectively enrolled.99Tcm-MIBI dual-phase planar scan,SPECT/CT imaging,CT and neck ultrasound were performed before surgery.All patients had pathological results.McNemarx2 test was used to compare the detection rates of the four imaging methods.ROI method was applied to calculate the uptake ratio (T/NT) and Pearson correlation analysis was used to evaluate correlation between T/NT and serum intact PTH,Ca,the lesion volume measured after parathyroidectomy.Results A total of 42 parathyroid lesions were confirmed by pathology.There were 39 patients with parathyroid adenoma (2 with double adenomas,and 37 with single adenoma containing 2 ectopic adenomas) and 1 patient with parathyroid carcinoma.The detection rate of planar scan,SPECT/CT imaging,CT and neck ultrasound were 78.0％ (32/41),92.7％ (38/41),73.2％ (30/41) and 70.7％ (29/41) respectively.Detection rate of SPECT/CT imaging was significantly higher than that of planar scan,CT or ultrasonography (x2 =4.17,4.90,5.82,all P＜0.01).However there were no remarkable differences between the detection rate of planar scan and that of CT or ultrasonography (x2=0.08,0.36,both P＞0.05).Detection rates of CT and ultrasonography were not significantly different either (x2 =1.90,P＞0.05).T/NT in delayed planar imaging were significantly correlated with PTH,Ca and the lesion volume measured after parathyroidectomy (r =0.56,0.54,0.56,all P＜0.01).Conclusions Compared with 99Tcm-MIBI dual-phase planar scan,CT and ultrasonography,SPECT/CT imaging could be of important clinical value for preoperative localization of PHPT because of its higher detection rate and accurate anatomical localization ability.

Macroadenoma cervical palpable: Una presentación muy inusual de hiperparatiroidismo primario / Cervical macroadenoma causing hyperparathyroidism: Report of one case

We report a 59-year-old man with a history of hypertension, recurrent renal stones and a severe hypercalcemia of 14.9 mg/dl with a serum phosphorus of 2.4 mg/dl and a serum albumin of 3.6 g/dl. Physical examination showed a 4 cm left cervical nodule, consistent with the diagnosis of thyroid nodule. Parathyroid hormone (PTH) levels were 844 pg/mL (normal 15-65 pg/ml) and a cervical ultrasound examination disclosed a solid nodule in the lower left lobe of 40 x 30 x 25 mm, adjacent to the thyroid parenchyma. Abdominal ultrasound revealed bilateral renal stones. Parathyroid scintigraphy showed a high uptake of the left lower parathyroid mass and a bone densitometry showed bone density t scores of -1.2 in the spine, -2.0 in the right femoral neck and -3.5 in the distal radius. A review of his medical record revealed the presence of hypercalcemia for at least 4 years. He was admitted for hydration and administration of 4 mg zoledronic acid iv. At 24 hours, serum calcium dropped to 11.0 mg/dl, and a left thyroid lobectomy was performed including the lower left parathyroid gland. The pathology report showed a 22.6 g parathyroid adenoma. Intraoperatory PTH descended > 50%, consistent with successful parathyroidectomy. At 7 days after surgery serum calcium was 8.8 mg/dl, phosphorus 2.1 mg/dl, alkaline phosphatase 166 U/L, albumin 3.9 g/dL, PTH 230 pg/ml and 25-OH vitamin D 12.4 ng/ml. This finding was interpreted as secondary hyperparathyroidism due to vitamin D deficiency and “hungry bone”, being less likely the presence of residual or metastatic parathyroid tissue. A cholecalciferol load was administered, with significant descent of PTH.

Hiperparatireoidismo primário: apresentação atípica. Relato de caso / Primary hyperparathyroidism: an atypical presentation. Case report

O objetivo deste estudo foi relatar um caso de hiperparatireoidismo primário com características clínicas, laboratoriais e de imagem atípicas, levando a suspeita diagnóstica de carcinoma de para tireoide que é uma causa rara de hiperparatireoidismo primário. Paciente do gênero masculino, 55 anos, apresentava quadro de perda ponderal significativa, astenia e mal estar generalizado. Ao exame físico, foi encontrada uma massa cervical palpável à esquerda. Procedeu-se assim à investigação laboratorial que evidenciou aumento das concentrações de cálcio e de paratormônio. Foi realizada ultrassonografia cervical que confirmou a presença de nódulo cervical e cintilografia por SESTAMIBI-99mTc que mostrou nódulo hipercaptante, de 2,5cm de diâmetro, próximo à tireoide. Outros exames evidenciaram litíase renal e lesões ósseas líticas disseminadas. Tais achados levaram à hipótese de hiperparatireoidismo primário causado por carcinoma de paratireoide. O paciente foi então submetido a procedimento cirúrgico e à biópsia de congelamento da lesão. Esta revelou características benignas, afastando a hipótese de carcinoma e a necessidade de uma ressecção inbloc associada à linfadenectomia, procedimento indicado em caso positivo para malignidade. A análise anatomopatológica do nódulo evidenciou um adenoma. Um ano após o tratamento,o paciente permanece livre de doença. O carcinoma de paratireoide deve ser considerado quando da presença de níveis extremamente elevados de cálcio sérico e paratormônio. Apesar do diagnóstico de carcinoma não ter se confirmado na análise histopatológica, a manutenção desta patologia entre os diagnósticos diferenciais foi essencial para a abordagem adequada do caso e para sua exclusão diagnóstica com maior segurança...

The aim of this article is to report a case of primary hyperparathyroidism with atypical clinical, laboratory and imaging features. These findings raised a diagnostic suspicion for parathyroid carcinoma, a rare cause of primary hyperparathyroidism. A 55 year-old male patient presented complaints of significant weight loss, weakness and general malaise. He also had a palpable cervical mass. Imagingm studies evidenced nephrolithiasis and diffuse lytic bone lesions. Laboratory tests showed very high levels of serum calcium and parathormone. These findings prompted a neck ultrasonography and SESTAMIBI-99mTc scintigraphy, which revealed a 2.5cm nodule with increased captation near the thyroid gland. The patient was submitted to surgical exploration and a frozen section biopsy of the lesion. The lesion showed benign patterns, and there was, therefore, no need for an in bloc resection and lymphadenectomy, which is the appropriate procedure in malignancy cases. The histopathologic analysis of the nodule revealed an adenoma. At the one year follow-up, the patient remained disease-free. Parathyroid carcinoma must be considered in cases with very high levels of serum calcium and parathormone. Although the diagnosis of carcinoma was not confirmed histologically, keeping this pathology in mind among the differential diagnosis was essential for the appropriate management of the case and the safe diagnostic exclusion of that malignancy...

Gender differences in patients with primary hyperparathyroidism concurrent with upper urinary tract calculus / 中华泌尿外科杂志

Objective To explore the gender differences in patients with primary hyperparathyroidism (PHPT) concurrent with upper urinary tract stone.Methods The clinical data of 40 PHPT concurrent with upper urinary tract stone cases treated from January 1997 to December 2013 were analyzed retrospectively.There were 21 males and 19 females,with an mean age of 51 years (26-77 years).All patients underwent operation for PHPT,with preoperative parathyroid hormone (PTH) level of (38.42± 30.11)pmol/L.The PTH level in female patients was significantly higher than that in male patients (29.37± 17.64pmol/L versus 48.47±40.55 pmol/L,P=0.04).Serum biochemical variables were monitored,and 21 cases had 24 h-urinalysis.Results Postoperative pathology confirmed 36 cases of parathyroid adenoma and 4cases of parathyroid hyperplasia.Hypercalcemia and hypophosphatemia were improved with no significant gender difference (both P＞0.05).But in 21 cases of 24 h-urinalysis,urinary calcium and phosphorus in males were significantly higher than those in females (8.26±2.60 mmol/24 h versus 6.08± 1.59 mmol/24 h,P=0.03; 7.03±1.44 mmol/24 h versus 5.42±1.25 mmol/24 h,P=0.01).Conclusion In patients with PHPT concurrent with urolithiasis,male patients may be more associated with hypercalciuria.

Three cases of parathyroid crisis and a literature review / 中华全科医师杂志

To explore the clinicopathological characteristics of parathyroid crisis.The data of 3 cases from our hospital and 125 cases reported domestically were retrospectively analyzed.All 3 cases were male.And their disease course was 3 months to 10 years.The serum calcium ranged from 3.72 to 5.19 mmol/l.Among 177 retrieved cases,125 had complete basic data.The male/female ratio was 1∶ 1.17,average age (46 ± 14) (15-75) years and average serum calcium (4.30 ± 0.58) (3.75-7.28) mmol/L.There was no difference between genders or benign and malignant pathological types.Among 117 eases with pathological diagnosis,the most common type was adenoma (74.4％).The ratio of parathyroid carcinoma was higher in males than that in females (33.3％ vs.11.7％).Misdiagnosis rate was 25.0％ upon initial presentations.Case fatality rate stood at 9.4％ (17/180) and half of them died preoperatively.

Preoperative Localization and Intraoperative Parathyroid Hormone Assay in Korean Patients with Primary Hyperparathyroidism

BACKGROUND: The intraoperative parathyroid hormone (IOPTH) assay is widely used in patients with primary hyperparathyroidism (PHPT). We investigated the usefulness of the IOPTH assay in Korean patients with PHPT. METHODS: We retrospectively reviewed the data of 33 patients with PHPT who underwent parathyroidectomy. Neck ultrasonography (US) and 99mTc-sestamibi scintigraphy (MIBI scan) were performed preoperatively and IOPTH assays were conducted. RESULTS: The sensitivity of neck US and MIBI scans were 91% and 94%, respectively. A 50% decrease in parathyroid hormone (PTH) levels 10 minutes after excision of the parathyroid gland was obtained in 91% (30/33) of patients and operative success was achieved in 97% (32/33) of patients. The IOPTH assay was 91% true-positive, 3% true-negative, 0% false-positive, and 6% false-negative. The overall accuracy of the IOPTH assay was 94%. In five cases with discordant neck US and MIBI scan results, a sufficient decrease in IOPTH levels helped the surgeon confirm the complete excision of the parathyroid gland with no additional neck exploration. CONCLUSION: The IOPTH assay is an accurate tool for localizing hyperfunctioning parathyroid glands and is helpful for evaluating cases with discordant neck US and MIBI scan results.

Análise do gene CDKN1B/p27kip1 em pacientes com neoplasia endócrina múltipla tipo 2 / CDKN1B/p27kip1 gene analysis in patients with multiple endolcrine neopasia type 2 (MEN2)

INTRODUÇÃO: Na Neoplasia Endócrina Múltipla tipo 2 (NEM2), o desenvolvimento do Carcinoma Medular de Tireoide (CMT), Feocromocitoma (FEO) e Hiperparatireoidismo primário (HPT) está associado à mutações germinativas ativadoras no proto-oncogene RET. Casos de CMT esporádico podem apresentar mutações somáticas no RET (~40%). A variabilidade fenotípica observada em casos de CMT e FEO familiais associados à NEM2 indica o envolvimento de eventos genéticos adicionais que seriam responsáveis pelas diferenças clínicas observadas nos indivíduos afetados (idade de desenvolvimento, progressão e agressividade do tumor). Outras alterações genéticas no RET como duplas mutações, SNPs e haplótipos específicos podem influenciar na susceptibilidade, agressividade e modulação do fenótipo NEM2. Entretanto, os estudos de outros genes envolvidos no processo da tumorigênese NEM2 ainda estão em andamento. Recentemente foi mostrado que RET ativado controla a expressão de proteínas inibidoras do ciclo celular (p18 e p27). Mutações germinativas no gene p27 foram recentemente associadas à susceptibilidade de tumores neuroendócrinos e estão associadas à síndrome NEM4 (Neoplasia endócrina múltipla tipo 4). Mutações somáticas, inativadoras de p27, são raramente encontradas em vários tipos de tumores. Entretanto, diversos estudos documentaram que a redução na expressão e a sublocalização citoplamática de p27 são controladas por alterações pós-transducionais e/ou epigenéticas. OBJETIVOS: o estudo teve como objetivos avaliar a participação de genes, recentemente associados ao RET ativado, em tumores de pacientes com NEM2 e também verificar se polimorfismos no gene p27 estariam atuando como moduladores de fenótipo em uma grande família com NEM2. CASUÍTICA: foram analisadas 66 amostras tumorais advindas de 36 pacientes com diagnóstico clínico e genético de NEM2 e 28 indivíduos pertencentes a uma grande família com NEM2A-CMTF e mutação C620R no gene RET. MÉTODOS:...

INTRODUCTION: In Multiple Endocrine Neoplasia type 2 (MEN2) the development of medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO) and primary hyperparathyroidism (HPT) are associated with activating germline mutations in RET proto-oncogene. Cases of sporadic MTC may have somatic RET mutations (~ 40%). The phenotypic variability observed in cases with familial MTC/MEN2 and PHEO/MEN2 indicates the probable involvement of additional genetic events that could be responsible for the clinical differences observed in the affected individuals (age development, progression and aggressiveness of the tumor). Other genetic alterations such as RET double mutations, SNPs and specific haplotypes may influence susceptibility, aggressiveness and MEN2 phenotype modulation. However, studies of other genes involved in the tumorigenesis of MEN2 are still in progress. Recently, it was shown that the activated RET controls the expression of cell cycle inhibitory proteins (p18 and p27). Germline mutations in the p27 gene have recently been associated with the susceptibility to neuroendocrine tumors and are associated with the MEN4 syndrome (Multiple endocrine neoplasia type 4). Somatic inactivating mutations p27 are rarely found in many types of tumors. However, several studies have documented that reduced expression and subcellular location of p27 is controlled by post-transductional changes and/or epigenetic factors. OBJECTIVES: This study aimed to evaluate the role of genes recently associated with RET activated in tumors from MEN2 patients and also check whether polymorphisms in the p27 gene would be acting as modulators of phenotype in a large MEN2 family. PATIENTS: We analyzed 66 tumor samples from 36 patients with clinical and genetic diagnosis of MEN2 and from 28 individuals belonging to a large family with FMTC/MEN2A and RET C620R mutation. METHODS: The analyses of somatic p27, p15, p18 and RET...