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au:WOHLLK, NELSON

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Caracterización de tumores secretores de hormona de crecimiento de acuerdo al patrón granular y su rol en el pronóstico
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Valenzuela, Felipe

; Villanueva, Pablo

; Rojas Z., David

; Gejman, Roger

; Huete, Isidro

; Zunino, Romina

; Díaz, René E.

; Wohllk, Nelson

; Tissera, Claudia

; Carrasco, Carmen A.

Revista médica de Chile

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Jul 2019, Volumen 147 Nº 7 Paginas 852 - 859

Resumen: En Es | Texto: En Es | PDF: En | PDF: Es

Background: Classification of growth hormone (GH) - secreting tumors by the granular pattern might predict their clinical behavior in acromegalic patients. There are several other prognostic factors. Aim: To compare the features at presentation and cure rates of patients with GH secreting tumors according to the granular pattern, and to define independent prognostic factors for surgical treatment in these patients. Material and Methods: A retrospective, observational study of 85 active acromegalic patients surgically treated in two medical centers. Results: Seventy-four patients (87%) were classified as having densely granulated (DG) and 11 (13%) as sparsely granulated (SG) tumors. The latter were less active biochemically, had a higher rate of macroadenoma and cavernous sinus invasion and had a lower rate of biochemical cure than the DG group. Several characteristics were associated with disease persistence but only age (Odds ratio (OR) = 0.93) and cavernous sinus invasion (OR = 21.7) were independently associated in the logistic regression model. Conclusions: The sparsely granulated pattern is associated with a more aggressive behavior, but the main determinants of prognosis are age and cavernous sinus invasion.

1216 descargas

Estudio y manejo de nódulos tiroideos por médicos no especialistas. Consenso SOCHED
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Tala, Hernán

; Díaz, René E.

; Domínguez Ruiz-Tagle, José Miguel

; Sapunar Zenteno, Jorge

; Pineda, Pedro

; Arroyo Albala, Patricia

; Barberán, Marcela

; Cabané, Patricio

; Cruz Olivos, Francisco

; Gac, Patricio E.

; Glasinovic Pizarro, Andrea

; González, Hernán E.

; Grob, Francisca

; Hidalgo Valle, Maria Soledad

; Jaimovich, Rodrigo

; Lanas, Alejandra

; Liberman, Claudio

; Lobo Guiñez, Maite

; Madrid, Arturo

; Moreno Seguel, Marcela

; Mosso, Lorena

; Munizaga, Fernando C.

; Ortiz Parada, Eugenia

; Osorio Gonnet, Fernando

; Slater Morales, Jeannie

; Solar, Antonieta

; Stehr, Carlos

; Vásquez Rodríguez, Félix

; Véliz, Jesús

; Villaseca Najarian, Roberto

; Wohllk, Nelson

Revista médica de Chile

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Ago 2017, Volumen 145 Nº 8 Paginas 1028 - 1037

Resumen: En Es | Texto: En Es | PDF: En | PDF: Es

The thyroid nodule is a frequent cause of primary care consultation. The prevalence of a palpable thyroid nodule is approximately 4-7%, increasing up to 67% by the incidental detection of nodules on ultrasound. The vast majority are benign and asymptomatic, staying stable over time. The clinical importance of studying a thyroid nodule is to exclude thyroid cancer, which occurs in 5 to 10% of the nodules. The Board of SOCHED (Chilean Society of Endocrinology and Diabetes) asked the Thyroid Study Group to develop a consensus regarding the diagnostic management of the thyroid nodule in Chile, aimed at non-specialist physicians and adapted to the national reality. To this end, a multidisciplinary group of 31 experts was established among university academics, active researchers with publications on the subject and prominent members of scientific societies of endocrinology, head and neck surgery, pathology and radiology. A total of 14 questions were developed with key aspects for the diagnosis and subsequent referral of patients with thyroid nodules, which were addressed by the participants. In those areas where the evidence was insufficient or the national reality had to be considered, the consensus opinion of the experts was used through the Delphi methodology. The consensus was approved by the SOCHED board for publication.

https://doi.org/10.4067/s0034-98872017000801028 28478 descargas

Importancia de la tiroglobulina sérica preablativa en la predicción de sobrevida libre de enfermedad en cáncer diferenciado de tiroides
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Díaz, René E

; Véliz, Jesús

; Wohllk, Nelson

Revista médica de Chile

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Dic 2013, Volumen 141 Nº 12 Paginas 1506 - 1511

Resumen: En Es | Texto: En Es | PDF: En | PDF: Es

Background: Serum thyroglobulin (sTg) is an excellent marker of persistence or recurrence of disease in differentiated thyroid cancer (DTC), however its role as prognostic factor has not been fully established. Aim: To assess the value of the preablative thyroglobulin (pTg) as predictor of disease-free survival in DTC. Patients and Methods: Retrospective study of 104 patients with low and intermediate risk DTC subjected to total thyroidectomy and 131iodine ablation. TSH, pTg and thyroglobulin antibodies (AbTg) were determined by chemiluminescence. Patients with distant metastases or presence of AbTg were excluded. Results were analyzed using receiving operating characteristic (ROC) curves. Results: During the 40 ± 29 months of follow-up (range 6-132), 14 of 104 (13%) patients had recurrence of disease. pTg was an independent indicator to predict disease-free survival. Using a pTg cutoff of < 10 ng/ml the negative predictive value was 99%, sensitivity 93%, specificity 82%, positive likelihood ratio (LR) 5.2 and negative LR 0,087. Conclusions: pTg value is useful as a prognostic marker in predicting disease-free survival in DTC patients with low or intermediate risk of recurrence.

5087 descargas

Resultados visuales en pacientes con macroprolactinoma tratados con agonistas de dopamina
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Cuevas, José Luis

; Fernández, Verónica

; Rojas, David

; Wohllk, Nelson

; González, Óscar

; Torche, Esteban

Revista médica de Chile

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Jun 2013, Volumen 141 Nº 6 Paginas 687 - 694

Resumen: En Es | Texto: En Es | PDF: En | PDF: Es

Background: Dopamine agonists (DA) effectively reduce tumor size of macroprolactinomas, with the consequent improvement of eventual visual impairment. Aim: To study the visual outcomes in patients with macroprolactinoma treated with DA. Material and Methods: Retrospective cohort study which included patients with macroprolactinoma controlled at a Neuro-endocrinology and Neuro-ophthalmology Department between 1997'and2011, and treated exclusively with DA (bromocriptine or cabergoline). Patients who were operated or had previous radiotherapy and those with an incomplete follow up, were excluded. We analyzed and compared the visual status before and after the beginning of DA treatment. Results: Thirty one patients aged 8 to 59years, were included. Eighteen patients (58%) had visual impairment at the moment of diagnosis (group 1) and 13 had no alterations (group 2). Mean follow up was 36.5 months. Fifteen patients from group 1 (83%) had visual improvement, two remained stable (11 %) and one had a visual deterioration (6%). In group 2, only one non-compliant patient had a visual deterioration. Conclusions: DAs are effective in the management of neuro-ophthalmic complications associated to macroprolactinomas and should be considered asfirst choice therapy in these tumors.

16556 descargas

Multiple endocrine neoplasia: the Chilean experience
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Diaz, René E.

; Wohllk, Nelson

Clinics

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2012, Volumen 67 Supl. 1 Paginas 7 - 11

Resumen: En | Texto: En | PDF: En

Multiple endocrine neoplasia (MEN) types 1 and 2 are genetic diseases that are inherited as autosomal traits. The major clinical manifestations of multiple endocrine neoplasia type 1 include the so-called "3 P's": parathyroid, pituitary, and pancreatic tumors, including gastroenteroneuroendocrine tumors. Genetic testing can be performed on patients and the potential carriers of the menin gene mutation, but the genotype-phenotype correlation in multiple endocrine neoplasia type 1 is less straightforward than multiple endocrine neoplasia type 2. Most likely, the main advantage of genetic testing in MEN1 is to exclude from further studies those who are negative for the genetic mutation if they belong to a family with a known history of MEN1. In Chile, we started with rearranged during transfection proto-oncogene genetic testing (MEN2) 15 years ago. We carried out a prophylactic total thyroidectomy to prevent medullary thyroid carcinoma in a three-year-old girl who presented with microscopic medullary thyroid carcinoma. More than 90% of the individuals who tested positive using a genetic test achieved a biochemical cure compared with only 27% of patients who receive a clinical diagnosis. Mutations are mainly located in exon 11; the most common is C634W, rather than C634R. Hypertensive crisis was the cause of death in three patients, and extensive distant metastases occurred in nine (including two patients with multiple endocrine neoplasia type 2B) of 14 patients. Earlier recognition of medullary thyroid carcinoma and the other features of the disease, especially pheochromocytoma, will improve the survival rate of patients with multiple endocrine neoplasia.

https://doi.org/10.6061/clinics/2012(Sup01)03 2251 descargas

Head and neck paragangliomas: clinical and molecular genetic classification
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Offergeld, Christian

; Brase, Christoph

; Yaremchuk, Svetlana

; Mader, Irina

; Rischke, Hans Christian

; Gläsker, Sven

; Schmid, Kurt W

; Wiech, Thorsten

; Preuss, Simon F

; Suárez, Carlos

; Kopć, Tomasz

; Patocs, Attila

; Wohllk, Nelson

; Malekpour, Mahdi

; Boedeker, Carsten C

; Neumann, Hartmut PH

Clinics

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2012, Volumen 67 Supl. 1 Paginas 19 - 28

Resumen: En | Texto: En | PDF: En

Head and neck paragangliomas are tumors arising from specialized neural crest cells. Prominent locations are the carotid body along with the vagal, jugular, and tympanic glomus. Head and neck paragangliomas are slowly growing tumors, with some carotid body tumors being reported to exist for many years as a painless lateral mass on the neck. Symptoms depend on the specific locations. In contrast to paraganglial tumors of the adrenals, abdomen and thorax, head and neck paragangliomas seldom release catecholamines and are hence rarely vasoactive. Petrous bone, jugular, and tympanic head and neck paragangliomas may cause hearing loss. The internationally accepted clinical classifications for carotid body tumors are based on the Shamblin Class I-III stages, which correspond to postoperative permanent side effects. For petrous-bone paragangliomas in the head and neck, the Fisch classification is used. Regarding the molecular genetics, head and neck paragangliomas have been associated with nine susceptibility genes: NF1, RET, VHL, SDHA, SDHB, SDHC, SDHD, SDHAF2 (SDH5), and TMEM127. Hereditary HNPs are mostly caused by mutations of the SDHD gene, but SDHB and SDHC mutations are not uncommon in such patients. Head and neck paragangliomas are rarely associated with mutations of VHL, RET, or NF1. The research on SDHA, SDHAF2 and TMEM127 is ongoing. Multiple head and neck paragangliomas are common in patients with SDHD mutations, while malignant head and neck paraganglioma is mostly seen in patients with SDHB mutations. The treatment of choice is surgical resection. Good postoperative results can be expected in carotid body tumors of Shamblin Class I and II, whereas operations on other carotid body tumors and other head and neck paragangliomas frequently result in deficits of the cranial nerves adjacent to the tumors. Slow growth and the tendency of hereditary head and neck paragangliomas to be multifocal may justify less aggressive treatment strategies.

https://doi.org/10.6061/clinics/2012(Sup01)05 6503 descargas Citado 4 veces en SciELO

Paragangliomas múltiples asociados a mutación del gen SDHB: Caso clínico
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Díaz, René E

; Utreras, Carlos

; Ascuí, Rodrigo

; Hidalgo, Fernando

; Véliz, Jesús

; Wohllk, Nelson

Revista médica de Chile

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Nov 2011, Volumen 139 Nº 11 Paginas 1475 - 1480

Resumen: En Es | Texto: En Es | PDF: En | PDF: Es

Paragangliomas are tumors arising from sympathetic and parasympathetic tissues. The classic associated syndromes are neurofibromatosis type 1, multiple endocrine neoplasia type 2 and von Hippel-Lindau. Germline mutations of succinate dehydroge-nase subunits genes, are associated with familial paraganglioma syndromes 1,2,3 and 4. We report a 29-year-old woman with a family background of pheochromocytoma and history of paroxysmal headache, nausea, sweating, palpitations, associated with severe hypertension. The patient had elevated plasma noradrenalin and urinary normetanephrines. Imaging studies revealed three retroperitoneal extra-adrenal masses. The clinical and laboratory study of classic syndromes associated with para-ganglioma was negative. The patient was operated and the pathological study of the surgical specimen was consistent with paragangliomas. The genetic study showed a mutation in the SDHB succinate dehydrogenase gen, Exon 2 of CCTCA c.300_304 (p.P56delYfsX5).

7999 descargas

Insuficiencia suprarrenal y crisis addisoniana como primera manifestación de cáncer de pulmón y metástasis suprarrenal bilateral: Caso clínico
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Utreras, Carlos

; Díaz, René E

; Ascui, Rodrigo

; Caro, Rodrigo

; Véliz, Jesús

; Wohllk, Nelson

Revista médica de Chile

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Sep 2011, Volumen 139 Nº 9 Paginas 1196 - 1200

Resumen: En Es | Texto: En Es | PDF: En | PDF: Es

Addisonian crisis as a first manifestation of metastatic disease secondary to cancer is uncommon. We report a 63-year-old man with a history of one year of fatigue, weakness, weight loss and repeated symptomatic hypoglycemia. The cortisol stimulation test with ACTH confirmed primary adrenal insufficiency. While receiving adequate treatment with oral hydrocortisone, he presented an adrenal crisis that was treated properly. A CT scan of the lung demonstrated a nodule in the upper right lobe and bilateral adrenal tumors. The biopsy of the lesion revealed a lung adenocarcinoma. The staging with positron emission tomography using 18 fluoroglucose (PET/CT18F- FDG) showed hypermetabolic uptake in the primary lung tumor and in both adrenal glands, suggesting metastatic implants.

13835 descargas

Manejo multidisciplinario de la acromegalia
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Rojas-Zalazar, David

; Mura C, Jorge

; Cataldo G, Claudia

; Wohllk G, Nelson

Revista chilena de neuro-psiquiatría

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Mar 2011, Volumen 49 Nº 1 Paginas 37 - 46

Resumen: En Es | Texto: En Es | PDF: En | PDF: Es

Acromegaly is a chronic disease caused in most cases by hypophysiary adenoma. It is of complex management due to the high variability of the causing lesion and its clinical repercussion. Surgical outcomes are poor with remission rates of 80% for microadenomas and 50% for macroadenomas. The author's experience in treating 38 patients with this pathology as well as the remission results of the illness and the complications are presented herein. Handling alternatives and associated complications are discussed and a clinical case is presented to show the therapeutical options in more complex cases.

La acromegalia es una enfermedad crónica causada en la mayoría de los casos por un adenoma hipofisario. Su manejo es complejo por la gran variabilidad de la lesión causante y su repercusión clínica. Los resultados quirúrgicos son pobres, con tasas de remisión de la enfermedad en promedio de un 80% en microadenomas y 50% en macroadenomas. Se presenta la experiencia del autor en el manejo de esta patología en 38 pacientes, los resultados de remisión de la enfermedad. Se discute las alternativas de manejo, complicaciones asociadas y se ilustra con un caso clínico para demostrar las opciones terapéuticas en los casos más complejos.

6891 descargas Citado 1 vez en SciELO

10.

Latin American Thyroid Society recommendations for the management of thyroid nodules
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Camargo, Rosalinda

; Corigliano, Sandro

; Friguglietti, Celso

; Gauna, Alicia

; Harach, Rubén

; Munizaga, Fernando

; Niepomniszcze, Hugo

; Pitoia, Fabian

; Pretell, Eduardo

; Vaisman, Mario

; Ward, Laura Sterian

; Wohllk, Nelson

; Tomimori, Eduardo

Arquivos Brasileiros de Endocrinologia & Metabologia

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Dic 2009, Volumen 53 Nº 9 Paginas 1167 - 1175

Resumen: Pt En | Texto: Pt En | PDF: Pt | PDF: En

Vários consensos têm sido publicados acerca do diagnóstico e do tratamento de nódulos e câncer da tireoide. Entretanto, as recentes recomendações nem sempre são apropriadas para diferentes regiões ou países. O objetivo deste trabalho foi oferecer uma série de recomendações para a avaliação e conduta de pacientes portadores de nódulos tireoideos aplicáveis a todos os países da América Latina. O trabalho foi realizado por um comitê composto por 13 membros da Sociedade Latino-Americana de Tireoide envolvidos com pesquisa e manejo de pacientes portadores de nódulos e carcinoma diferenciado da tireoide, de diferentes centros médicos da América Latina. As recomendações foram estabelecidas, após consenso, utilizando as opiniões especializadas de cada membro e os princípios da medicina baseada em evidência. Após a primeira reunião do grupo, um primeiro documento foi elaborado e encaminhado a todos os membros para revisão. Posteriormente, o documento foi enviado aos membros da Sociedade Latino-Americana de Tireoide para avaliação, sugestões e comentários. A versão final, elaborada após refinada revisão de todos os autores, representa o estado da arte no diagnóstico e na conduta de nódulos tireoideos, aplicáveis a todos os países da América Latina.

Several guidelines on diagnosis and treatment of thyroid nodules and cancer have recently been published. However, recommended practices are not always appropriate to different settings or countries. The aim of this consensus was to develop Clinical Guidelines for evaluation and management of patients with thyroid nodules applicable to Latin American countries. The panel was composed by 13 members of the Latin American Thyroid Society involved with research and management of thyroid nodules and cancer from different medical centers in Latin America. The consensus was produced based on the expert opinion of the panel with use of principles of evidence-based medicine. Following a group meeting, a first draft based on the expert opinion of the panel was elaborated and later circulated among panel members for further revision. After revision, this document was submitted to all LATS members for commentaries and considerations and finally revised and refined by the authors. The final recommendations represent state of the art on management of thyroid nodules applied to all Latin American countries.

8667 descargas Citado 9 veces en SciELO

11.

Recommendations of the Latin American Thyroid Society on diagnosis and management of differentiated thyroid cancer
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Pitoia, Fabián

; Ward, Laura

; Wohllk, Nelson

; Friguglietti, Celso

; Tomimori, Eduardo

; Gauna, Alicia

; Camargo, Rosalinda

; Vaisman, Mario

; Harach, Rubén

; Munizaga, Fernando

; Corigliano, Sandro

; Pretell, Eduardo

; Niepomniszcze, Hugo

Arquivos Brasileiros de Endocrinologia & Metabologia

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Oct 2009, Volumen 53 Nº 7 Paginas 884 - 887

Resumen: Pt En | Texto: Pt En | PDF: Pt | PDF: En

Estas recomendações tiveram por objetivo o desenvolvimento de diretrizes para avaliação e manejo de pacientes com câncer diferenciado da tiroide em países latino-americanos. Um painel composto por 13 membros da Sociedade Latino-Americana de Tireoide (SLAT) - que estavam envolvidos em pesquisas, e eram peritos no cuidado do paciente com câncer da tiroide e provenientes de diferentes centros médicos latino-americanos - utilizou os princípios da Medicina Baseada em Evidências para produzir esse consenso. Após uma primeira reunião, um texto inicial foi elaborado, baseado em evidências e opiniões dos especialistas do painel e, posteriormente, circulado entre os membros do painel, para revisão. Após a revisão, o documento foi enviado aos membros da SLAT para comentários e considerações e, finalmente, revisado e refinado pelos autores. As recomendações finais aqui apresentadas demonstram o estado da arte no manejo do câncer diferenciado da tireoide aplicadas aos países latino-americanos.

The aims of these recommendations were to develop clinical guidelines for evaluation and management of patients with differentiated thyroid cancer applicable to Latin American countries. The panel was composed by 13 members of the Latin American Thyroid Society (LATS) involved with research and management of thyroid cancer from different medical centers in Latin America. The recommendations were produced on the basis of the expert opinion of the panel with use of principles of Evidence-Based Medicine. Following a group meeting, a first draft based on evidences and the expert opinions of the panel was elaborated and, later, circulated among panel members, for further revision. After, this document was submitted to the LATS members, for commentaries and considerations, and, finally, revised and refined by the authors. The final recommendations presented in this paper represent the state of the art on management of differentiated thyroid cancer applied to all Latin American countries.

8893 descargas Citado 23 veces en SciELO

12.

Utilidad de la detección de tiroglobulina en el aspirado de punción ganglionar cervical en el seguimiento de pacientes con cancer papilar de tiroides
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Véliz, Jesús

; Brantes, Sergio

; Ramos, Claudia

; Aguayo, Jaime

; Cáceres, Edith

; Herrera, Mónica

; Barber, Ana

; Barría, Manuel

; Wohllk, Nelson

Revista médica de Chile

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Sep 2008, Volumen 136 Nº 9 Paginas 1107 - 1112

Resumen: En Es | Texto: En Es | PDF: En | PDF: Es

Background: During the detection ofneck recurrence in patients with Papillary Thyroid Carcinoma (PTC), sometimes it is difficult to distinguish metastatic from inflammatory neck lymph nodes. The measurement of serum thyroglobulin (sTg) under thyroid hormone suppression therapy the presence of serum thyroglobulin antibodies (sAbTg), the diagnostic whole body sean and cytology can give false negative results. Measurement of thyroglobulin in the washout fluid from fine-needle aspiration biopsy (FNAB) of suspicious neck lymph nodes could improve the diagnostic aecuracy Aim: To evaluate the usefulness of detecting Tg in lymph nodes (LTg) suspicious by ultrasonography (US) and compare it to cytology. Patients and Methods: Between the years 2004 and 2007 we prospectively studied 30 patients with PTC and cervical US findings of suspicious recurrence. LTg was assayed in US guided FNAB used for cytology. Results: Sixteen out of 30 patients underwent surgery using as selective criteria an LTg higher than sTg or a positive cytology. Surgery confirmed the presence of metástasis in all 15 patients with positive LTg (8 with positive cytology) and in 1 patient with negative LTg and positive cytology (a case with undifferentiated thyroid cancer). The sensitivity was 93.7% for LTg and 56.2% for cytology. We identified byLTg 3 of 6 patients with undetectable sTg and positive sAbTg. Conclusions: The presence of LTg showed a higher sensitivity than cytology for the detection of cervical lymph node metástasis. This method is useful even in the presence ofsAbTg.

9009 descargas

13.

Manejo de los adenomas hipofisiarios
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Rojas Z, David

; Palma F, Alvaro

; Wohllk G, Nelson

Revista chilena de neuro-psiquiatría

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Jun 2008, Volumen 46 Nº 2 Paginas 140 - 147

Resumen: Es | Texto: Es | PDF: Es

122370 descargas

14.

Resultados Terapéuticos en pacientes acromegálicos: es tiempo de intervenir
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Carrasco M, Carmen

; Véliz L, Jesús

; Rojas Z, David

; Wohllk G, Nelson

Revista médica de Chile

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Ago 2006, Volumen 134 Nº 8 Paginas 989 - 996

Resumen: En Es | Texto: En Es | PDF: En | PDF: Es

Background: The treatment of choice for acromegaly is surgery that, according to the literature, is curative in 91% of pituitary microadenomas and 73% of macroadenomas. Aim: To report the results of surgical treatment in 53 patients with acromegaly. Material and methods: Retrospective review of medical records of all patients with acromegaly, operated between 1984 and 2004. When necessary, patients were contacted by telephone to complete information or to perform biochemical or imaging studies. A normal value of insulin like growth factor I (IGF-1) for age and sex, a growth hormone (GH) nadir of less than 1 ng/ml during a glucose tolerance test or a basal GH of less than 2.5 ng/ml, all assessed three months after surgery, were considered as criteria for cure. Results: Biochemical cure was achieved in 67% of patients with pituitary microadenomas and 21% of patients with macroadenomas. In 47% of patients with neuro-ophtalmological involvement, a partial or total recovery in the visual field defect was achieved. The most common surgical complications were transient diabetes insipidus in 19%, persistent diabetes insipidus in 4% and cerebrospinal fluid fistula in 4%. A lower size of the tumor and lower preoperative growth hormone levels were associated with a better chance of cure. Conclusions: The cure rates obtained in this group of patients are clearly lower than those reported abroad. These results stress the importance of having a national registry of acromegaly and the need to train neurosurgeons in the treatment of pituitary tumors (Rev Méd Chile 2006; 134: 989-96).

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15.

Tiroidectomía profiláctica en niños y jóvenes con cáncer medular tiroideo hereditario: Experiencia chilena
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- SciELO Analytics

Ramos S, Claudia

; Ojeda S, Dagoberto

; Cohn M, David

; Wohllk G, Nelson

Revista médica de Chile

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- SciELO Analytics

Sep 2005, Volumen 133 Nº 9 Paginas 1029 - 1036

Resumen: En Es | Texto: En Es | PDF: En | PDF: Es

Background: With the availability of the RET proto-oncogene genetic testing, it is possible to perform prophylactic total thyroidectomy among carriers of RET mutation. Aim: To evaluate the histological findings and the effects of the prophylactic total thyroidectomy in first-degree relatives of Chilean patients with multiple endocrine neoplasia type 2 (MEN 2) based on the Ret proto-oncogen analysis. Subjects and Methods: Nineteen patients belonging to 11 MEN 2 families underwent total thyroidectomy. Of these, 16 either with C cell hyperplasia (CCH) or microscopic medullary thyroid carcinoma (MTC) were selected for the final analysis. Results: The age at the moment of thyroidectomy ranged from 3 to 24 years (median 9.5). The most common mutation was located in codon 634 (69%) followed by codon 620 (25%). Histopathology revealed MTC in 13 patients (81%, youngest 3 years, oldest ones 19 and 24 years) and CCH in 3. A significant correlation was observed between basal preoperative serum calcitonin/tumor size (r= 0.53, P <0.05) and age/tumor size (r= 0.56, P <0.03), but not between basal preoperative serum calcitonin and age. Stimulated preoperative calcitonin levels were confounding and not useful for differentiating CCH from MTC. None of patients in whom cervical dissection was done (9/16) presented lymph node metastases, including the oldest ones. All patients but the older ones were biochemically cured after a mean of 5 years of follow-up. Conclusion: Prophylactic total thyroidectomy should be done early in life because there is an age-dependent progression from HCC to MTC. MTC often precedes biochemical detection of the disease (Rev Méd Chile 2005; 133: 1029-36)

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