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Evaluation and management of a carcinoma arising in a thyroglossal duct cyst.

Thyroglossal duct remnants are the most common congenital cystic lesions of the neck; however, a carcinoma arising in these structures is rare. Two new cases of a papillary adenocarcinoma arising in a thyroglossal duct cyst are presented. Preoperative evaluation, operative management, and postoperative care are discussed. Initial evaluation consisting of a thorough head and neck examination, palpation of the thyroid gland, thyroid function tests, and selective use of thyroid imaging is recommended. Removal of the cyst and tract in the manner described by Sistrunk is advocated. If an adenocarcinoma is found in the cyst and if a carcinoma is found in the thyroid gland or a thyroid scan reveals a nodule, a total thyroidectomy is recommended. A modified neck dissection and total thyroidectomy is advocated for cervical metastases. Postoperatively, thyroid suppression and long-term follow-up are encouraged. A squamous cell carcinoma arising in a thyroglossal duct remnant appears more aggressive and requires complete excision and, for confirmed cervical metastases, radical neck dissection and postoperative radiation therapy.

Adenocarcinoma, Papillary↗

The pituitary-thyroid axis following surgery for thyrotoxicosis: thyrotrophin-releasing hormone tests in diffuse thyroid hyperplasia and toxic uninodular goitre.

The pituitary-thyroid axis was assessed 1 month after surgery by thyrotrophin releasing hormone (TRH) testing in thirty thyrotoxic patients treated by subtotal thyroidectomy and eleven patients with toxic uninodular goitre. All toxic nodule patients gave essentially normal TRH responses and have remained clinically and biochemically euthyroid at follow-up. Only seven of the thirty subtotal thyroidectomy patients had normal TRH tests when assessed 1 month post thyroidectomy -sixteen patients showed increased response, six gave flat responses, and one showed an anomalous minimal response. Follow-up TRH tests 12 months postthyroidectomy have shown a tendency for TRH responsiveness to return towards normal, but two patients with flat TRH tests have required radioiodine for relapse and four TRH hyperresponders are currently receiving thyroxine replacement therapy.

Adult↗

Pendred's syndrome with goiter and enlarged vestibular aqueducts diagnosed by PDS gene mutation.

BACKGROUND: Pendred's syndrome (PS) is an autosomal recessive disorder characterized by goiter and congenital sensorineural hearing loss. Recent advances in molecular biology revealed the gene responsible for PS (PDS) and provided an important aid for the diagnosis of this condition. METHODS: A case of PS with huge goiter and congenital hearing impairment was diagnosed by mutational analysis of the PDS gene. RESULTS: Physical examination and computer tomography CT revealed a diffuse swelling of the thyroid gland. Thyroid function tests were normal, and the perchlorate discharge test was negative. Audiologic examination confirmed sensorineural hearing loss, and temporal bone CT revealed bilateral enlarged vestibular aqueducts. The mutational analysis revealed that the patient was homozygous for His 723 Arg (2168A-->G) in exon 19, a missense mutation. CONCLUSIONS: The results of thyroid function tests in PS patients are usually normal, and the positive perchlorate discharge test has been used for the diagnosis. However, this is a nonspecific test and is not sensitive enough for PS. In our case, despite a negative perchlorate test, the patient was diagnosed by mutational analysis and received total thyroidectomy to relieve respiratory distress caused by thyroid enlargement. This is the first report of a mutation detected in the thyroid tissue and clearly shows that the mutation caused histopathologic change in that gland.

Aged↗

Graves' disease. Initial presentation with exophthalmos and solitary hot nodule.

A 52-year-old man presented with left exophthalmos. A thyroid scan showed a right lobe hot nodule with suppression of the remainder of the gland. Thyroid function tests were normal. In less than two years, the patient had worsening of the exophthalmos. Thyroid indices then revealed hyperthyroidism and the thyroid image had markedly altered (with evidence of diffuse function). This change, initially showing a hot nodule and then diffuse thyroid overactivity, has been reported previously in three cases (all women). Characteristics of the disorder in these four individuals were reviewed. It is possible that the patients had two distinct diseases, separated temporally.

Graves Disease↗