Mutation in the thyroid hormone receptor (TR) beta gene (M313T) not previously reported in two unrelated families with resistance to thyroid hormone (RTH).

Two families expressing the RTH phenotype and harboring the same mutation in the TRbeta gene are described. Five and four affected members in each family were investigated as well as a total of 12 unaffected relatives. The mutation, a T to C transition of nucleotide 1223 in one allele of affected individuals, results in the replacement of the normal Met for a Thr. Haplotyping revealed that the same mutation developed in each family independently. Whereas attention deficit hyperactivity disorder was associated with RTH in 7 of the 9 affected individuals, it was also present in 2 family members without RTH.

Early hypothyroidism in patients with menorrhagia.

The functional status of the thyroid gland was evaluated in 67 apparently euthyroid menorrhagic women by a thyrotropin-releasing hormone test. Fifteen of 67 showed mild primary hypothyroidism characterized by a small but significant elevation of basal levels of thyroid-stimulating hormone (5.9 +/- 0.76 versus 2.4 +/- 0.24 mU/L) and lowering of serum thyroxine levels (85 +/- 4.2 versus 105 +/- 3.0 nmol/L) to levels that were nevertheless within the normal range and exaggerated response of serum thyroid-stimulating hormone and thyroxine to administration of thyrotropin-releasing hormone. Triiodothyronine levels showed no significant change. The terms early and potential hypothyroidism appear to better describe the preliminary phases of hypothyroidism than do other terms in current use. Menorrhagia disappeared within 3 to 6 months and did not reappear in 1 to 3 years of follow up in all patients with early hypothyroidism to whom L-thyroxine was given. This was accompanied by a significant decline in random serum thyroid-stimulating hormone levels and rise of thyroxine levels to those found in the group with a negative response to the thyrotropin-releasing hormone test, with no change in levels of triiodothyronine. Further systematic study of thyroid function in menorrhagia is warranted.

Renal and hepatic scintigraphy in paroxysmal nocturnal hemoglobinuria (PNH).

Scintigraphic findings in paroxysmal nocturnal hemoglobinuria (PNH) have been presented. To summarize, a focal hot spot on liver imaging was better seen on the IDA scan, showing resolution following a satisfactory portacaval anastomosis. PNH is another cause of hot kidneys on bone imaging.

Familial thyroid nodulation and arrhenoblastoma.

A patient who had thyroid nodules and a functioning ovarian arrhenoblastoma had a family history of thyroid nodulation affecting both males and females in four consecutive generations. One relative had multiple follicular adenomas of the thyroid. The findings support the proposal that this is another genetically determined endocrine organ tumor complex.

Scintigram in cortical blindness (Anton's syndrome).

Anton's syndrome or cortical blindness consists of blindness, denial of blindness and at times confabulation. Despite the fact that the patient is completely blind, a persistent denial of inability to see is noted and is sometimes accompanied by visual hallucinations. We present a case report and scintigraphic study.

Purpura associated with hypergammaglobulinemia, renal tubular acidosis and osteomalacia.

Two patients with hyperglobulinemia associated with purpura were studied. One had features of Sjögren's syndrome, while the other appeared to have a primary condition -- "chronic benign purpura". Both patients also had renal tubular acidosis, osteomalacia and renal calculi, with disturbed calcium metabolism and acid-base balance. Autoantibodies were detected in the serum of both patients, and mononuclear cell infiltrates were noted in skin and kidney biopsies from both.

Masculinizing granulosa cell tumour.

A 23-year-old woman had oligomenorrhea, underdevelopment of the breasts, moderate hirsutism and increased serum testosterone values associated with a benign noncystic granulosa cell tumour of the left ovary. She was frail, irritable and apathetic. Since the age of 7 she had had periodic abdominal pain with nausea, vomiting and dizziness; irritability and occipital headache appeared when she was older. Her symptoms resolved and the masculinization did not progress after the tumour was removed. Only six similar well documented cases have been reported.