Hemiagénesis tiroidea asociada a enfermedad de Basedow Graves: comunicación de un caso / Thyroid hemiagenesis associated to Basedow Graves disease: report of case

We report a 35 years old female with left lobe thyroid hemiagenesis who initially was euthyroid and then developed hyperthyroidism due to Graves disease. Hemiagenesis of the thyroid gland is a rare anomaly with an uncertain incidence; up to now 256 cases have been reported. The detection is often made by either clinical symptoms of thyroid dysfunction, by imaginological studies or surgical/pathological procedures. No explanation has been given for the development of this anomaly; left lobe aplasia and predominance of occurrence in women have been most frequently reported

Neoplasias endocrinas múltiples: un modelo clínico para aplicar técnicas de genética molecular / Multiple endocrine neoplasia: a clinical model for testing molecular genetic techniques

Multiple endocrine neoplasias (MEN) are syndromes inherited as autosomal dominant. The application of the techniques of molecular biology has made possible the identification of the genes causing MEN 1 and 2. The gene responsable for MEN 1 belongs to the family of tumor suppressor genes and encodes for a protein named MENIN whose function remains to be elucidated. The identification of mutant MEN 1 gene carriers who are at risk of developing this syndrome requires frequent biochemical screening for the development of endocrine tumors. MEN 2 is a consequence of mutations in the Ret proto- oncogene (c-Ret). This gene encodes for a tyrosine kinase receptor thought to play a role in the development of neural crest- derived tissue. Members of kindred with either MEN 2A or MEN 2B should be screened by direct DNA testing early in life for mutations in c-Ret. Those with the mutation should be advised to have thyroidectomy at five years of age in children with MEN 2A and earlier in children with MEN 2B . Some cases of sporadic MTC are actually MEN 2A or Familial MTC after c-Ret testing is done, therefore routine application of this test is recommended in all cases of apparent sporadic MTC

Tratamiento con radioyodo del bocio difuso hipertiroídeo: influencia del pretratamiento con propiltiuracilo / Treatment of diffuse hyperthyroid goiter with radioiodine: influence of propylthiouracil pretreatment

Background: To stabilize Graves disease and deplete the preformed hormone, the use of antithyroid drugs prior 131I therapy has been suggested, specially in those patients with severe thyrotoxicosis and in the elderly. However, PTU may reduce the effectiveness of 131I. Aim: To study the effects of PTU pretreatment before 131I administration. Subjets and methods: A retrospective analysis of the medical records of patients with Graves disease treated with 131I from 1989 to 1997 was made. Of 244 patients with adequate follow-up for at least 12 months after 131I treatment, 142 had not been pretreated and 102 had received PTU prior to 131I therapy. Pretreated patients were distributed according to the number of days that PTU was discontinued before reciving 131I, forming four groups (a=5d, b=6-14 d, c=15-30 d and d=31-60 d). Radioiodine was delivered according to our protocol of 120 µCi per gram of thyroid tissue, as estimated by clinical examination. Therapy was considered successful when laboratory evidence of euthyroidism or hypothyroidism after one year of treatment was obtained and as a failure when undetectable TSH values persisted after 12 months of treatment with 131I. Results: All groups were comparable as to age, gender, goiter size, and 24 h radioiodine uptake. Control of hyperthyroidism was achieved in 76 percent of the non pretreated group. A similar percentage was observed in groups (b), (c) and (d). However, the disease was controlled in only 50 percent of group (a) patients (p <0.003). Conclusions: The therapeutic efficacy of 131I is significantly reduced when the PTU is stopped for only a few days prior to the use of radioiodine. We postulate that PTU has to be discontinued for at least 10 days before radioiodine administration

Pruebas de función tiroidea en embarazadas normales, tercer trimestre y embarazadas con colestasis gravídica o con hepatitis aguda / Thyroid function tests in normal pregnancy women, third trimester and in women with intrahepatic cholestasis of pregnancy or with acute hepatitis in pregnancy

Background: Intrahepatic cholestasis of pregnancy (ICP) is a disease of unknown cause characterized by pruritus and biochemical cholestasis in the 3rd trimester of pregnancy. Its pathogenesis may be due to the interaction of abnormalities in the metabolism of estrogens and progesterone, while still unknown environmental factor (s) modulate the expressivity of a genetic predisposing trait. Aims: To verify if thyroid function tests (TFT) are altered in ICP as in other hepatic diseases and whether a dietary iodine deficiency could be involved. Material and methods: From 1983 to 1986, 13 normal pregnancies (3rd trimester), 26 ICP patients (with 30 pregnancies) and 4 patients with acute non-A non-B hepatitis in pregnancy, were studied. Serum T3, rT3, T4, fT4 and TSH (before and after TRH) were measured by RIA; in ICP patients, measurements were repeated in puerperium. Urinary 24 h iodine excretion was measured in normal pregnancies and in 6 ICP patients. Results: In normal pregnancies, T3 (3.00ñ0.22 nmol/L) and rT3 (0.40ñ0.03 nmol/L) were higher than the values detected in non-pregnant women; other TFT were unchanged. Urinary iodine excretion was normal in all individuals tested. Patients with acute hepatitis in pregnancy or with ICP had lower T3 than normal pregnancies (1.82ñ0.19 nmol/L in hepatitis; 2.24ñ0.12 nmol/L in ICP; p<0.01) and higher rT3 (0.80ñ0.25 nmol/L in hepatitis; 0.54ñ0.05 nmol/L in ICP; p<0.05), while other TFT were unchanged. None of them had clinical signs of hypo or hyperthyroidism. A "euthyroid sick syndrome" was detected in 2 ICP patients and in 2 acute hepatitis in pregnancy. In puerperium of ICP patients, T3 and rT3 returned to levels in non-pregnant women. Conclusions: In ICP patients, TFT show similar trends than in more severe hepatic and non-hepatic diseases. Although thyroid binding-globulin was not measured in our patients, the pattern of TFT suggests that an impaired peripheral (hepatic?) deiodination of T4 is responsible for these changes. The influence of a dietary iodine deficiency can be ruled out

Tratamiento del hipertiroidismo por enfermedad de Basedow-Graves: visión retrospectiva al cabo de 30 años / Treatment of Basedow-Graves hyperthyroidism: retrospective analysis after 30 years

Background: It is still debated which is the best treatment for Basedow-Graves' hyperthyroidism (BGH). We reviewed 195 patients treated and followed-up during the past 30 years: 88 treated with propylthiouracil (PTU), 70 with 131I and 37 thyroidectomized Aim: to analyze the efficacy of each therapy in terms of achieving euthyroidism and the search of possible indexes for success. Surgery attained euthyroidism in 70.2 percent but has disadvantages; 131I accounted for the highest hypothyroid rate (72.1percent) irrespective of the dose administered; PTU alone was successful in only 26.4 percent but combined with T4, success rose to 62.5 percent (p < 0.025). Suppression test and/or TRAb measurements after 6 mo PTU therapy were used to decide if therapy continued or was changed to other form of treatment. Using this criteria, 87.5 percent of pts with positive results achieved longstanding euthyroidism. Pretreatment predictive indexes were goiter size, T4 levels and 24 h/RAI uptake. Conclusions: As 131I induces hypothyroidism in over 2/3 of pts and surgery besides its cost is not devoid of serious complications, we advocate for the use of PTU as first line therapy; combined treatment (PTU + T4) seems promising. If after 6 mo on PTU, TRAb or Suppression test do not improve, we recommend 131I or surgery

Tiroiditis subaguda y supuración tiroidea concomitante en 1 caso / Subacute thyroiditis and concomitant thyroidal abscedation in 1 case

We report a 41 years old man adnitted with tender goiter, fever, thyrotoxic manifestations and atrial fibrillation. Laboratory confirmed the diagnosis of subacute thyroiditis and treatment with aspirin and propanolol was started, obtaining a rapid relief of symptoms and normalization of heart rate. On the 10th day after admission, severe dysfagia, dysphonia, irritative cough and further enlargement of the neck mass developed. Fine needle aspiration of the mass and thyroid ultrasound lead to the diagnosis of a thyroidal abscess, which was surgically excised, draining 250 ml of purulent material. Cultures were positive for Staphylococcus aureus. Patient was treated during 21 with cloxacilyn and discharged with normal thyroid function. Long term follow-up has been uneventful

Cáncer medular del tiroides: análisis preliminar de 10 casos controlados / Thyroid medullar cancer: preliminary analysis of 10 controlled cases

Se presenta 10 casos de cáncer medular de tiroides (CMT), tratados desde 1978, mediante un protocolo definido y que consiste en tiroidectomía total con disección ganglionar cervical y mediastínica superior más radioterapia externa postoperatoria. Todos los pacientes son de sexo femenino y sus edades fluctúan entre los 20 y 70 años. El estudio funcional tiroideo era normal y la cintigrafía mostró nódulo frío o hipocaptante en 9 casos y en un caso hipocaptación de toda la glándula. Desde el punto de vista histológico, 4 casos fueron considerados del tipo clásico, 3 trabeculares, 2 papilares y 1 del tipo insular. Todos resultaron positivos para la tinción del amiloide. El seguimiento es de 3 años en 2 casos y entre 5 y 10 años el resto. Sólo 1 paciente con NEM ya falleció, 6 años después de su tiroidectomía, con metástasis hepática y 2 años después de haber sido operada de un feocromocitoma. El resto de los pacientes está sin evidencia de enfermedad relacionada con su CMT. Se concluye que debe investigarse el CMT en todo paciente con bocio nodular y que tenga diarreas y/o síntomas vasomotores