Tirotoxicosis por enfermedad trofoblástica gestacional: revisión a partir de 3 casos / Thyrotoxicosis due to gestational trophoblastic disease: clinical cases

La enfermedad trofoblástica gestacional (ETG) es una complicación del embarazo poco común. Corresponde a un espectro de lesiones proliferativas del tejido trofoblástico: Mola Hidatiforme (MH) en sus formas parcial y completa, Coriocarcinoma, Tumor Trofoblástico y Tumor Trofoblástico Epiteloide. Los distintos tipos de ETG presentan en común la hipersecreción de gonadotrofina coriónica humana (hCG). La hCG es una hormona glicoproteica con una estructura muy similar a la TSH, por lo cual puede estimular la función tiroidea en condiciones fisiológicas y en algunas condiciones patológicas. La ETG puede cursar con hipertiroidismo, el cual puede variar en intensidad, desde una presentación asintomática con alteración leve de hormonas tiroideas a un cuadro de hipertiroidismo manifiesto. Se presentan 3 casos clínicos de pacientes con ETG, específicamente MH que evolucionaron con tirotoxicosis transitoria. Los casos presentaron un cuadro leve de hipertiroidismo con pocos síntomas asociados. La taquicardia fue el único síntoma en la mayoría de los casos. En todas las pacientes las hormonas tiroideas se normalizaron después del tratamiento de la ETG. Conclusión: Se debe tener presente la posibilidad de hipertiroidismo en toda paciente con ETG. Un alto nivel de sospecha permitirá identificar a aquellas pacientes que cursen con hipertiroidismo, permitiendo así un diagnóstico y tratamiento oportuno.

Gestational trophoblastic disease (GTD) is a rare complication of pregnancy. GTD includes a group of proliferative lesions of trophoblastic tissue: partial and complete hydatidiform mole, choriocarcinoma, epithelioid trophoblastic tumor, and placental site trophoblastic tumor. The different types of GTD have in common the hypersecretion of human chorionic gonadotropin (hCG). HCG is a glycoprotein hormone with a similar structure to TSH. In physiological and pathological conditions hCG can stimulate thyroid function. GTD can present with hyperthyroidism, which can vary in intensity, from an asymptomatic presentation with mild alteration of thyroid hormones to a manifest hyperthyroidism. We present 3 clinical cases of patients with GTD thyrotoxicosis. All cases presented mild hyperthyroidism. Tachycardia was the only symptom in most cases. In all patients thyroid hormones return to normal after treatment of GTD. Conclusion: In patients with GTD the possibility of hyperthyroidism should be kept in mind. A high level of suspicion will allow to identifying patients with hyperthyroidism.

Hipertiroidismo en personas mayores de 65 años: serie de casos de un hospital universitario / Thyrotoxicosis in the elderly: case series report from a university hospital

Introducción: En Chile en las últimas décadas ha aumentado la población de personas mayores de 65 años. La tirotoxicosis en este grupo está asociada a complicaciones como fibrilación auricular (FA), insuficiencia cardiaca (ICC), osteoporosis y aumento de la mortalidad. En algunos casos puede presentarse con síntomas no específicos, cuadro conocido como hipertiroidismo apático. Objetivos: Evaluar las características clínicas de la tirotoxicosis en personas mayores. Método: Serie de casos retrospectiva. Se analizaron fichas clínicas de pacientes mayores de 65 años con el diagnóstico de tirotoxicosis controlados en nuestro centro entre enero de 2012 y mayo de 2018. Resultados: En el periodo estudiado 54 pacientes fueron diagnosticados de tirotoxicosis. Se excluyen 4 por datos incompletos. El 80% corresponden a mujeres. La mediana de edad fue 71 años (rango 65-94), sin diferencias por género (p=0,61). La etiología más frecuente fue enfermedad de Graves (EG) en 64%, seguido por bocio multinodular hiperfuncionante en 20%, adenoma tóxico en 10% y asociada a fármacos en 6%. De los pacientes con EG, 28% presentó orbitopatía distiroidea (OD) clínicamente evidente. Un 30% se diagnosticó en contexto de baja de peso, deterioro cognitivo o patología cardiovascular, sin presentar síntomas clásicos de hipertiroidismo. Un 16% presentó FA, 14% ICC y 6% fractura osteoporótica. El 28% fue diagnosticado durante una hospitalización o requirió ser hospitalizado durante los meses siguientes. Los mayores de 75 años presentan una mayor probabilidad de hipertiroidismo apático (OR 5,1, IC95% 1,15-22,7 p=0,01). Además, las complicaciones aumentan en mayores de 75 años, encontrándose en este grupo todos los casos de FA. Conclusiones: La etiología más común de tirotoxicosis fue la EG, a diferencia de lo reportado en otras poblaciones. Un número importante de pacientes debutó sin síntomas clásicos de hipertiroidismo, principalmente mayores de 75 años, por lo que se debe tener una alta sospecha en este grupo etario.

Introduction: Hyperthyroidism in the elderly can produce severe complications such as atrial fibrillation (AF), heart failure (CHF) and osteoporosis. In the elderly, thyrotoxicosis may have only nonspecific symptoms, known as apathetic hyperthyroidism. Objective: To evaluate the clinical characteristics of thyrotoxicosis in the elderly. Methods: Retrospective case series. We reviewed clinical records of patients with thyrotoxicosis older than 65 years, between January 2012 and March 2019. Results: During this period, 54 patients were diagnosed with thyrotoxicosis. Four patients were excluded due to incomplete data. 80% were women. The average age was 73 years (range 65-94), without age difference between gender (p=0,61). The most frequent etiology was Graves' disease in 64%. Hyperfunctioning multinodular goiter was confirmed in 20%, toxic adenoma in 10% and drug-associated in 6%. Twenty eight percent of Graves' disease patients had dysthyroid orbitopathy. Thirty percent presented as apathetic hyperthyroidism. Sixteen percent of the patients presented AF, 14% CHF, and 6% osteoporotic fracture. Twenty-eight percent were diagnosed during hospitalization or required hospitalization in the following months. Those older than 75 years had a greater probability of presenting apathetic hyperthyroidism (OR 5.1, 95% CI 1.15- 22.7 p=0.01). Complications increase in this age group, with all cases of AF. Conclusions: The most common etiology of thyrotoxicosis in this group was GD. This differs from other populations. A significant number of patients presented without classic symptoms of hyperthyroidism, especially in people older than 75 years. Special attention should be paid to atypical symptoms of hyperthyroidism in this group.

Paratirotoxicosis y tumor cervical palpable: caso clínico de cáncer de paratiroides / Parathyrotoxicosis and palpable neck mass: a clinical presentation of parathyroid cancer

Introducción: El cáncer de paratiroides es poco frecuente. Suele presentarse como hiperparatiroidismo primario, en ocasiones como crisis hipercalcémica, con malestar general, náuseas, vómitos, alteraciones del ánimo y pérdida de peso. En algunos casos se presenta como osteítis fibrosa quística, osteopenia difusa, osteoporosis y fracturas patológicas. El diagnóstico suele estar dado por biopsia quirúrgica que muestra invasión a estructuras adyacentes, o metástasis locales y distantes. El tratamiento es la resección quirúrgica del tumor, sin uso de terapias adyuvantes. Su tasa de recurrencia es alta, de 25 a 100%. Algunos factores de mal pronóstico son metástasis a linfonodos en la presentación inicial, metástasis distantes y carcinomas no funcionantes. Caso clínico: Paciente masculino de 64 años que consultó por compromiso del estado general, bradipsiquia, poliuria, cefalea y masa cervical. Además presentaba hipercalcemia y gran elevación de PTH. Se realizó resección quirúrgica de la masa cervical, con biopsia rápida con atipias y mitosis 1/10, y de un nódulo hiperplásico tiroideo. Tras esto, sus niveles de PTH disminuyeron, así como también descendieron sus niveles de calcio. Discusión: Los pacientes que presentan cáncer de paratiroides suelen tener valores más elevados de calcemia y PTH. Para su diagnóstico, no se recomienda usar biopsia por punción, por riesgo de diseminación y por el bajo rendimiento de esta técnica. Conclusión: Pese a ser poco frecuente, se debe pensar en cáncer de paratiroides en el contexto de un paciente con hipercalcemia, especialmente si presenta PTH muy elevada. La sospecha clínica de este diagnóstico tiene directa relación con la posibilidad de tratamiento y pronóstico de la enfermedad.

Introduction: Parathyroid cancer is rare. Usually presented as primary hyperparathyroidism, sometimes as hypercalcemic crisis, with general malaise, nausea, vomiting, mood disturbances and low weight. In some cases it occurs as osteitis fibrosa cystica, diffuse osteopenia, osteoporosis and pathological fractures. The diagnosis is usually made by surgical biopsy shows invasion of adjacent structures, or local and distant metastases. The treatment is surgical resection of the tumor, without the use of adjuvant therapies. Their recurrence rate is high, 25 to 100%. Poor prognostic factors are lymph node metastases at initial presentation, distant metastases and nonfunctional carcinomas. Case report: Male patient consulted for 64 years in general conditions, bradypsychia, polyuria, headache and neck mass. He also had hypercalcemia and high elevation of PTH. Surgical resection of the cervical mass was performed, with rapid biopsy atypia and mitosis 1/10, and hyperplastic thyroid nodule. After this, PTH decreased levels as well as levels of calcium. Discussion: Patients with parathyroid cancer tend to have higher serum calcium and PTH of values. For diagnosis, it is not recommended to use needle biopsy, risk of spread and the poor performance of this technique. Conclusion: Despite being rare, you should think parathyroid cancer in the context of a patient with hypercalcemia, especially if you have very high PTH. The clinical suspicion of this diagnosis is directly related to the possibility of treatment and prognosis of the disease.

Incidentalomas endocrinos, más que una imagen / Endocrine incidentalomas, more than an image

Endocrine incidentalomas are nodular lesions located in endocrine glands, diagnosed serendipitously by different image techniques requested for non-endocrine reasons. They can be located in many sites, but this review describes those that compromise pituitary, adrenal and thyroid gland. The main diagnostic challenges of endocrine incidentalomas are discrimination between benign and malignant lesions, and their functional or non-functional endocrine activity. The relevance of adequate image interpretation and associated hormonal study is discussed. (AU)

Cáncer diferenciado de la tiorides, de la biología molecular a la clínica / Differentiated thyroid cancer, from molecular biology to the clinic

Recent advances in molecular research have made possible to identify intracellular pathways involved in cell proliferation and differentiation processes, and to clarify how functional alterations in these pathways could explain development of differentiated thyroid cancer. This information has direct implications in diagnostic and therapeutic strategies. We present a review of this topic with this integrated vision between molecular findings and clinical management.

[Primary thyroid lymphoma. Report of four cases]. / Linfoma primario de tiroides: Reporte de cuatro casos.

Primary thyroid lymphoma is uncommon and usually of non-Hodgkin type. We report four female patients with thyroid lymphoma. An 81 year-old patient that was operated and received three cycles of chemotherapy and was lost from follow up. A 16 year-old patient that is operated and received full chemotherapy and was discharged free of disease. A 80 year-old patient that was operated and died due to a multiple organ failure, 50 days after hospital admission and a 54 year-old female that was operated but rejected chemotherapy and was lost from follow up.

Expresión de marcadores de proliferación celular e invasión tisular en cáncer papilar del tiroides y su asociación con metástasis ganglionares / Expression of proliferation and invasion markers in papilary thyroid carcinoma with and without lymph node involvement

Background: Several molecules that may have a role in tumor proliferation, differentiation and invasion, have been detected in thyroid carcinoma. Some of these molecules are NIS, c-MET, TIMP1 an ephrinB2. Aim: To detect the presence of these molecules in tissue samples of thyroid carcinoma and relate their expression to the biological behavior of the tumor. Material and Methods: Tissue samples were prospectively obtained from 35 patients operated for a papillary thyroid carcinoma. Twelve patients had regional lymph node involvement. NIS, c-MET, TIMP1 and EphrinB2 were detected by real time polymerase chain reaction(RT-PCR) and immunohistochemistry. Results: The expression of markers by RT-PCR was non significantly higher among tumors with lymph node involvement. Immunohistochemistryshowed a significantly lower nuclear expression and a higher cytoplasmatic expression of EphrinB2 in tumors with lymph node involvement. Conclusions: Immunohistochemical expression of EphrinB2 could be useful for the initial staging of papillary thyroid carcinoma.

Hemibalismo invalidante transitorio como debut de diabetes mellitus / Transient hemiballism as the presenting symptom of diabetes mellitus: report of one case

Hemiballism is an uncommon neurological disorder characterized by uncontrollable movements of one lateral half of the body. We report a 56 years old male with a history of three weeks of polydipsia, polyuria and weight loss that, three days before consultation, started with hemiballism. A CAT scan without contrast showed a higher density in the lenticular nucleus and calcifications in caudate and lenticular nuclei. Diabetes was treated with regular insulin and hemiballism was controlled with neruoleptics. Ten days after admission a new CAT scan shows a partial regression of the lenticular lesion. After two months of follow up, the patient is asymptomatic.

Linfoma primario de tiroides: reporte de cuatro casos / Primary thyroid lymphoma: report of four cases

Primary thyroid lymphoma is uncommon and usually of non-Hodgkin type. We report four female patients with thyroid lymphoma. An 81 year-old patient that was operated and received three cycles of chemotherapy and was lost from follow up. A 16 year-old patient that is operated and received full chemotherapy and was discharged free of disease. A 80 year-old patient that was operated and died due to a multiple organ failure, 50 days after hospital admission and a 54 year-old female that was operated but rejected chemotherapy and was lost from follow up.

Correlación del diagnóstico cito-histológico en nódulos tiroídeos año 2005: indicador de calidad / Correlation of cytohistologic diagnosis in thyroid nodules year 2005: quality indicator

The fine-needle aspirates are used as the first step in the diagnostic management of thyroid nodules, they are considered cost-effective compared with the other approaches. During 2005 we studied 47 patients with cytology in the preoperative. We compared the FNAB results with the biopsy of the specimen to establish the accuracy of this method. The diagnosis of papillary carcinoma was correctly made in 18 of 47 histologically proven cases. There were no false positive cases. Of the 20 negative cases, 13 had benign diseases; 1 was a false negative with a follicular carcinoma; 3 cases had papillary microcarcinomas and 3 minimally invasive follicular carcinomas. The sensibility and specificity was 100 percent and 72 percent respectively. The positive predictive value was 100 percent and negative predictive value 65 percent. PAAF of the thyroid gland proved to be an excellent strategy in the preoperative diagnosis for the management of the thyroid nodules.

[Pancreatic exocrine function in diabetes mellitus. Determination of fecal elastase]. / Función pancreática exocrina en diabetes mellitus. Determinación de elastasa fecal.

BACKGROUND: One of the complications of diabetes mellitus is the development of pancreatic exocrine insufficiency. AIM: To study pancreatic exocrine function in diabetics patients. MATERIAL AND METHODS: Seventy two diabetic patients were included in the protocol, but two were withdrawn because an abdominal CAT scan showed a chronic calcified pancreatitis, previously undiagnosed. Fecal elastase was measured by ELISA and the presence of fat in feces was assessed using the steatocrit. RESULTS: Mean age was 60+/-12 years and 67 (96%) patients had a type 2 diabetes. Fecal elastase was normal (elastase >200 microg/g) in 47 (67%) patients, mildly decreased (100-200 microg/g) in 10 (14%) and severely decreased in 13 (19%). There was a significant association between elastase levels and time of evolution of diabetes (p=0.049) and between lower elastase levels and the presence of a positive steatocrit (p=0.042). No significant association was found between elastase levels and other chronic complications of diabetes such as retinopathy, nephropathy, neuropathy, microangiopathy or with insulin requirement. CONCLUSIONS: One third of this group of diabetic patients had decreased levels of fecal elastase, that was associated with the time of evolution of diabetes. Patients with lower levels of elastase have significantly more steatorrhea. Among diabetics it is possible to find a group of patients with non diagnosed chronic pancreatitis.

Función pancreática exocrina en diabetes mellitus: Determinación de elastasa fecal / Pancreatic exocrine function in diabetes mellitus: Determination of fecal elastase

Background: One of the complications of diabetes mellitus is the development of pancreatic exocrine insufficiency. Aim: To study pancreatic exocrine function in diabetics patients. Material and methods: Seventy two diabetic patients were included in the protocol, but two were withdrawn because an abdominal CAT scan showed a chronic calcified pancreatitis, previously undiagnosed. Fecal elastase was measured by ELISA and the presence of fat in feces was assessed using the steatocrit. Results: Mean age was 60±12 years and 67 (96%) patients had a type 2 diabetes. Fecal elastase was normal (elastase >200 µg/g) in 47 (67%) patients, mildly decreased (100-200 µg/g) in 10 (14%) and severely decreased in 13 (19%). There was a significant association between elastase levels and time of evolution of diabetes (p=0.049) and between lower elastase levels and the presence of a positive steatocrit (p=0.042). No significant association was found between elastase levels and other chronic complications of diabetes such as retinopathy, nephropathy, neuropathy, microangiopathy or with insulin requirement. Conclusions: One third of this group of diabetic patients had decreased levels of fecal elastase, that was associated with the time of evolution of diabetes. Patients with lower levels of elastase have significantly more steatorrhea. Among diabetics it is possible to find a group of patients with non diagnosed chronic pancreatitis.

Síndrome Prader Willi asociado a obesidad mórbida: tratamiento quirúrgico / Surgical treatment of morbid obesity associated to Prader-Willi syndrome: report of 1 case

Prader-Willi Syndrome (PWS) is a multisystemic genetic disease characterized by hypothalamic hypogonadism, mental retardation and compulsive hyperphagia associated with early and severe obesity. Complications of overweight, such as type-2 diabetes Mellitus, dyslipidemia and diffuse atheromatosis are common. We report a 15 years old morbid obese male with PWS, with a body mass index of 57.7 kg/m2, refractory to weight-lowering treatments. He underwent preoperative evaluation and treatment by a multidisciplinary team, and subjected to a 95 percent gastrectomy, leaving a 50 ml remnant pouch and a long limb (120 cm) Y-Roux gastro-jejuno anastomosis. There were no surgical complications, oral feeding was initiated at the 5th day with an hypocaloric diet. During the first postoperative year, the patient lost 70 kg, achieving a body mass index of 30 kg/m2. Surgical treatment can become a therapeutic choice for obesity in PWS patients

Tratamiento del hipertiroidismo con radioyodo: efecto de la dosis administrada sobre la función tiroidea y complicaciones asociadas / Treatment of hyperthyroidism with radioiodine: effects of administered dose on complications and thyroid function

Background: Radio-iodine is a definite therapy for Graves disease hyperthyroidism. However, the optimal dosage is still debatable. Aim: To assess the effects of different radioiodine doses on thyroid function and complications in patients with hyperthyroidism. Material and methods: A retrospective analysis of 139 patients with hyperthyroidism, treated with ratioiodine between 1988 and 1998. Radio iodine dose used was classified as low (<10 mCi), intermediate (10-14.9 mCi) or high (ü 15 mCi). Results: Thirty five patients were treated with low doses, 33 with intermediate doses and 71 with high doses. There were no differences between these patients in age, disease severity, frequency of post treatment euthyroidism or complications. Patients treated with low doses had a higher frequency of persistent hyperthyroidism than patients treated with high doses (25.7 and 4.2 percent respectively, p<0,001). Likewise, the frequency of subsequent hypothyroidism was 60 percent in patients treated with low doses and 84.5 percent of those with high doses, in whom it also appeared earlier. Associated complications were clinically irrelevant. In seven patients, Graves ophtalmopathy progressed after treatment, but this progression was not associated with the dose used. Conclusions: Radio iodine in high doses is useful, safe and effective for the treatment of Graves hyperthyroidism

Cáncer tiroideo: comunicación de 85 casos / Thyroid cancer: report of 85 cases

Background: Thyroid cancer is the most frequent endocrine cancer with important implications in terms of diagnosis and treatment. Aim: to report a population of patients with thyroid cancer diagnosed by pathological studies of the surgical piece. Patients and methods: Eighty five patients (68 female) with the definitive diagnosis of thyroid cancer were studied. Clinical, imaginological, cytological and pathological findings were analyzed. Results: The age range of patients was 10 to 77 years old. Sixty nine patients had ultrasonographic studies which showed a solid nodule in 84 percent, mixed solid-cystic area in 14.5 percent and a purely cystic nodule in 1.5 percent of the cases. Nineteen patients had non specific calcifications. Fine needle aspiration cytology was negative for malignancy in eight patients (false negative rate of 9.9 percent). The average size of the nodules was of 2.8 ñ 1.6 cm). Six nodules measured less than one cm (microcarcinoma). In the initial surgical procedure, 13 patients had lymph node metastases, 2 of them had a primary tumor of 1 cm and 5 patients had Graves's Disease. Frozen biopsies during operation had 9 false negative results for cancer (10.6 percent). Pathology showed 64 cases of papillary cancer (75 percent), 14 of follicular (16.5 percent), two were Hurthle cell cancer (2.4 percent), three were medullary (3.5 percent), and two anaplastic (2.4 percent). Conclusions: in our experience, thyroid cancer is more common in women, solid lesions predominate in the ultrasonography and calcifications are frequently found. The tumor size is variable and the most frequent pathological type corresponds to differentiated cancers. Using the definitive pathological study as the standard, the diagnostic sensitivity of fine needle cytology was 90.1 percent, and of frozen section 89.4 percent

Actualización en el manejo del cáncer diferenciado de tiroides / Update in the management of differentiated thyroid cancer

Esta revisión describe los avances más recientes en el diagnóstico y tratamiento del carcinoma diferenciado de tiroides. Esta neoplasia tiene una morbilidad relativamente elevada. Se presentan los principales procedimientos diagnósticos, haciendo énfasis en los estudios morfológicos y citológicos disponibles. Las diferentes modalidades terapéuticas, médicas y quirúrgicas son expuestas. Se discuten las ventajas y desventajas de los procedimientos quirúrgicos más utilizados. Se incluyen temas controversiales como la indicación de tiroidectomía subtotal en tumores de "buen iagnóstico", el uso del yodo 131 para terapia ablativa y las complicaciones asociadas a la terapia supresora con hormona tiroidea

Diagnóstico molecular de hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa, variedad perdedora de sal, en población chilena / Molecular diagnosis of salt wasting congenital adrenal hyperplasia, caused by deficit of 21-hydroxylase, in the Chilean population

Twenty five patients with salt wasting congenital adrenal hyperplasia, that had 17-hydroxyprogesterone levels above 30 ng/ml, were studied. In all patients, a polymerase chain reaction (PCR) with selective primers was done with extracted genomic DNA, to amplify the active gene and specific primers for normal or mutated alleles of 50 chromosomes of the 25 patients. The higher frequency affected the ASIn2 in 26 percent of cases, followed by mutations Arg357Trp in 22 percent of cases and Gln319Stop in 12 percent and deletion in 12 percent. The frequent genotypes were homozygosity for ASIn2 (16 percent), homozygosity for Arg357Trp (12 percent) and the homozygote deletion of the gene in 12 percent. The most frequent mechanisms of genetic deficiency of 21-hydroxylase were the mutations ASIn2 Arg357Trp. This type of studies allows prenatal diagnosis and genetics counseling