Multiple endocrine neoplasia type IIa: a case report.

The authors reported a twelve year and four-month old girl who had prolonged fever for 2 weeks. Physical examination revealed a painless enlarged thyroid gland with firm consistency. Hyperparathyroidism was suspected because of hypercalcemia, hypophosphatemia, high level of serum alkaline phosphatase, and decreased density of long bones. Thyroid scan showed a cold nodule of the left upper lobe which subsequently proved to be a medullary thyroid carcinoma by high serum thyrocalcitonin level and pathological examination. Her 24-hour urinary vanillyl mandelic acid was in the normal range, and abdominal ultrasonography demonstrated normal adrenal glands. Multiple endocrine neoplasia type IIa (MEN IIa) was diagnosed by medullary thyroid carcinoma and hyperparathyroidism. However, the fully developed syndrome is characterized by the combined occurrence of medullary thyroid carcinoma, primary hyperparathyroidism, and pheochromocytomas. This syndrome is a rare, complex, and potentially lethal disease so early recognition and family screening are very important.

Etiologic study of primary congenital hypothyroidism.

The underlying causes of 35 children with primary congenital hypothyroidism at the Children's Hospital were studied. There were 21 girls and 14 boys. Serum T4 and TSH level, 24 hours 131I uptake, and technetium-99m thyroid scintigraphy were performed after discontinuation of synthetic thyroid hormone for 4-6 weeks. Athyrosis was the most common cause and accounted for forty-three per cent of the patients. Twenty per cent of the patients had thyroid hypoplasia. Ectopic thyroid was found in thirty-three per cent of the patients. Only a patient whose diagnosis was organification defect had slightly enlarged thyroid gland, high retention of 131I and positive perchlorate discharge test. Onset of symptoms before 9 months of age may be helpful for distinguishing between lingual thyroid and the others. Serum T4 level less than 2 micrograms/dL was observed to be more common in athyrosis and lingual thyroid groups than thyroid hypoplasia group.