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.

Kenny-Caffe syndrome.

Kenny-Caffe Syndrome is rarely found. From 1966-1993 only 22 cases were reported worldwide. The author presented a case of Kenny-Caffe Syndrome who showed typical findings, i.e. short stature, small slender long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia with tetany at 1 month of age, hyperphosphatemia, hyperopia of both eyes and normal IQ. A review of the literature summarizing the clinical and laboratory findings of this syndrome is also presented.

Natural history of premature thelarche.

Fifty-nine girls with premature thelarche who attended the endocrine clinic at Children's hospital from 1980 to 1984 were studied. These girls were followed up for at least 3 years. The onset of premature thelarche was found in every age group from birth to below 96 months of age. Approximately 50 per cent of the cases had the onset between the age of 19 months and 96 months. In 44.1 per cent breast enlargement was unilateral. Forty-three patients (72.9%) had persistent breast enlargement for 3 years or more. Sixteen patients (27.1%) had progressive breast enlargement and 45.8 per cent had unchanged breast size at the time of the study. Premature thelarche resolved completely in 16 cases. The duration of regression ranged from 3-60 months, with a mean of 23 months. Premature thelarche is a benign condition but physicians must be cautious when predicting the outcome of breast enlargement. Periodic examination is essential to detect the other pubertal signs and do further investigations as necessary.