Elisabete Rodrigues

Graves' disease in a mediastinal mass presenting after total thyroidectomy for nontoxic multinodular goiter: a case report

BackgroundThyrotoxicosis after total thyroidectomy is mostly iatrogenic. Rarely, a hyperfunctional thyroid remnant or ectopic tissue may be the cause. There are few cases of Graves’ disease arising from thyroid tissue located in the mediastinum and none in which Graves’ disease was diagnosed only after surgery. We report the case of a patient with Graves’s disease in a mediastinal thyroid mass presenting 7 years after total thyroidectomy for nontoxic goiter.Case presentationA 67-year-old Caucasian woman presented with palpitations, fatigue and weight loss. She had a history of total thyroidectomy for nontoxic multinodular goiter at the age of 60 without any signs of malignancy on microscopic examination. She had been medicated with levothyroxine 100 μg/day since the surgery without follow-up. She was tachycardic, had no cervical mass or eye involvement. Her thyroid-stimulating hormone levels were suppressed (0.000 μU/mL) and her free thyroxine (3.22 ng/dL) and free triiodothyronine (8.46 pg/mL) levels increased. Neither mediastinal enlargement nor trachea deviation was found on chest roentgenogram. Levothyroxine treatment was stopped but our patient showed no improvement on free thyroxine or free triiodothyronine 10 days later. Thyroglobulin was increased to 294 mg/mL. A cervical ultrasound scan revealed no thyroid remnant. Her anti-thyroid-stimulating hormone receptor antibodies were high (19.7 U/L). Corporal scintigraphy demonstrated increased intrathoracic radioiodine uptake. A computed tomography scan confirmed a 60 × 40 mm mediastinal mass. Methimazole 10 mg/day was started. Three months later, her thyroid function was normal and she underwent surgical resection. Microscopic examination showed thyroid tissue with no signs of malignancy.ConclusionsAlthough thyrotoxicosis after total thyroidectomy is mostly due to excessive supplementation, true hyperthyroidism may rarely be the cause, which should be kept in mind. The presence of thyroid tissue after total thyroidectomy in our patient may correspond to a remnant or ectopic thyroid tissue that became hyperfunctional in the presence of anti- thyroid-stimulating hormone receptor antibodies.

Malignant paraganglioma and somatotropinoma in a patient with germline SDHB mutation—genetic and clinical features

BackgroundPituitary adenomas and paragangliomas/pheocromocytomas are rare endocrine tumours, which can be sporadic or familial. During many years their coexistence in the same individual was considered a coincidental finding. However, an association between these two entities was recently demonstrated, with the possible involvement of SDHx genes.Case reportWe describe a 57-year-old female patient, who was under surveillance since 1997 for a malignant paraganglioma with vertebral bone metastasis, and harboured a germline frameshift mutation in exon 6 of SDHB gene [c.587–591DelC]. Seventeen years later, she was diagnosed with acromegaly and underwent transesphenoidal endoscopic resection of a somatotropinoma. Three months after surgery she started treatment with lanreotide for residual disease. Despite initial good response, she developed resistance to first generation of somatostatin analogues and treatment had to be switched to pegvisomant. In the immunohistochemical staining, the pituitary adenoma was positive for SDHA expression, while SDHB showed an heterogeneous staining pattern, with areas markedly positive and others with positive and negative cells.ConclusionsOur findings provide useful data for understanding the link between paragangliomas/pheocromocytomas and somatotropinomas. While we confirm the well-established link between SDHB mutations and paragangliomas/pheocromocytomas, particularly with malignant paragangliomas, the preservation—at least partially—of SDHB expression in the somatotropinoma tissue does not allow drawing definite conclusions about the involvement of the SDHB mutation in pituitary adenoma.

Graves' disease in a mediastinal mass presenting after total thyroidectomy for nontoxic multinodular goitre

Case report: A 67-year-old woman presented with palpitations, fatigue and weight loss. She had a history of TT for nontoxic multinodular goitre at the age of 60 without any signs of malignancy on microscopic examination. She was medicated with levothyroxine 100 μg/day since the surgery without follow-up. She was tachycardic and had no cervical mass nor eye involvement. The TSH levels were suppressed (0.000 μU/ml) and the free T4 (3.22 ng/dl) and free T3 (8.46 pg/ml) increased. No mediastinal enlargement nor trachea deviation on chest roentgenogram. Levothyroxine treatment was stopped but patient showed no improvement on free T 4 or free T3 10 days later. Thyroglobulin was increased: 294 mg/ml. Cervical ultrasound revealed no thyroid remnant. Anti-TSH receptor antibodies were high (19.7 U/l). Corporal scintigraphy demonstrated increased intrathoracic radioiodine uptake. CT scan confirmed a 60×40 mm mediastinal mass. Methimazole 10 mg/day was started. Three months later her thyroid function was normal and she was submitted to surgical resection. Microscopic examination showed thyroid tissue with no signs of malignancy.

CO074. PAPEL DA PET/CT COM 68GaDOTANOC NO SEGUIMENTO DE DOENTES COM CARCINOMA MEDULAR DA TIRÓIDE

Em 31,2% dos casos existia história familiar de patologia tiroideia e em 5,4% antecedentes de irradiação cervical. O diagnóstico histológico foi de carcinoma papilar em 92,4%, folicular em 5,4% e pouco diferenciado em 2,2%. O diâmetro médio foi 3,1cm (> 2 cm em 62,7%), 33,8% apresentava extensão extratiroideia e 50,6% angioinvasão. À apresentação, 28,3% era T4, 57,6% era N1 (26,4% N1a; 73,6% N1b) e 17,2% M1 (87,5% pulmonar). Após a cirurgia, 65,1% fizeram tratamento com 131I (> 1 tratamento em 50,0% dos doentes). A actividade média no 1o tratamento foi 60,3 mCi (21-155). O tempo médio de follow-up foi 17,2 anos (± 8,2). À data da última observação, 45,7% estava vivo sem doença, 17,4% vivo com doença (87,5% evidência bioquímica e 12,5% evidência estrutural), tendo-se verificado apenas 1 óbito por doença (1,1%). 15,2% dos casos tiveram alta da consulta e em 20,6% houve perda de follow-up. Conclusão: Apesar de uma proporção importante de TTOF em idade pediátrica se apresentar com doença locorregional avançada e metastização sistémica, aparentam ter uma boa resposta ao tratamento e um excelente prognóstico.

P35. GERMINOMA INTRACRANIANO NA IDADE ADULTA. UM CASO CLÍNICO

3o doente, houve apoplexia do tumor hipofisario, com criterios de hipopituitarismo ao diagnostico (HbA1c 9,3%, IGF1 38,8 ng/ml). Tratada a CAD, nao necessitou de tratamento hipoglicemiante, estando atualmente medicado com levotiroxina e prednisolona e a aguardar evolucao da lesao. Cetoacidose diabetica, secundaria ao deficite relativo ou absoluto de insulina e ao excesso de hormonas contrarreguladoras, e rara como manifestacao de acromegalia (1%). Na nossa populacao representou 6,4% (N = 47). O efeito da GH e IGF1 no metabolismo da glicose e complexo e pode ser reversivel com a normalizacao ou reducao dos niveis de GH.