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In two adult patients with congenital poikiloderma (Rothmund-Thomson syndrome) the following endocrine abnormalities were found: Patient 1, female, with short stature had primary amenorrhoea and did not develop secondary sexual characteristics. Despite lacking an oestrogen effect on the vaginal smear and the low urinary oestrogen excretion, basal LH and FSH and their response to LH-RH were normal. At age 36 a parathyroid adenoma was diagnosed because of increased immunoreactive plasma parathyroid hormone and persistent hypercalcaemia. After removal of the tumour the patient remained normocalcaemic. The result of growth hormone response to insulin in the intermediate range was suggestive of partial deficiency. In patient 2, male, hypergonadotrophic hypogonadism with small testes and high basal LH and FSH levels as well as increased LH and FSH response to LH-RH were found. Plasma testosterone was normal. Endocrine abnormalities in previously published cases are summarized.

Hyperparathyroidism due to a hyperfunctioning parathyroid adenoma developed in a 57-year-old woman exposed to radiation for facial hirsutism, in whom other tumors of the head and neck had occurred. The details of history and the implications of causal relationship are presented.

The parathyroid glands of 14 deceased diabetics were investigated as well as nine control non-diabetics. Various in character and degree histological alterations were observed during the morphological investigations of those glands: mild or better manifested hyperplastic alterations (six cases), microadenoma (one case), focal vasculary determined atrophia (two cases, total atrophia of involutive type (two cases), close to the control alterations (three cases). Hyperplastic alterations are established most frequently in the presence of diabetic nephropathia and azotemia. They could be explained with the development of a secondary hyperparathyroidism, associated with chronic renal insufficiency. In single cases, an effect of the disturbance of the calcium-phosphorus metabolism in diabetes is admitted. Changes in the parathyroid glands, from the type of generalized diabetic microangiopathy, is suspected in one of the deceased patients. Two microadenomas were found in another case, predominantly with dark basic cells. No dependence was established between the morphological alterations and the severity, diabetes form, nor with the presence of pyelonephritis. Certain dependence was established between the age of the deceased and the stage of the azotemia.

We have reported of a case of generalised sarcoidosis with primary hyperparathyroidism. A pathogenetic relation between sarcoidosis associated with hypercalcemia and the development of parathyroid adenoma will be discussed and a causal connection will be proposed. According to our hypothesis every primary hyperparathyroidism could have developed from regulatory hyperfunction. This is illustrated by sarcoidosis with hypercalcemia and hypercalcuria. In this case a disturbance in vitamin D dependent calcium metabolism induces hyperplasia of the parathyroid which later leads to the development of a parathyroid adenoma. In addition a review of literature describing similar cases is given.

In our first 200 cases of primary hyperparathyroidism confirmed by operation 12 were also shown to have a long history either of a malabsorption syndrome or of chronic renal-glomerular failure. We consider that they first went through a phase of secondary hyperparathyroidism, during which one or more of the glands became autonomous adenamata. This then produced the biochemical changes of "primary" hyperparathyroidism, necessitating excision of the adenoma. This condition is best described as "tertiary" hyperparathyroidism. The transition from secondary to tertiary hyperparathyroidism occurred in four of the 12 patients while under our observation. We think the same process can be traced retrospectively in the other eight cases. The concept of tertiary hyperparathyroidism may help to explain the high incidence of other diseases in association with primary hyperparathyroidism.The behaviour of the parathyroid glands provides a valuable model for the investigation of tumour formation in man. All states occurred in our patients with primary hyperparathyroidism, from normal through hyperplasia to adenoma formation and finally to parathyroid carcinoma.

A semi-quantitative study of the parathyroid oxyphil cells in over 500 cases is presented. They are divided into two age groups: under 45 years of age and over that age period. In the former group the oxyphil cells are few in number except in advanced renal disease when there is a gross increase; in one case the increase was at least 1,200-fold. Over 45 years of age there is an average increase but a considerable number of cases, including some in the ninth decade, show no significant increase. From approximately the middle of the fifth decade onwards the average increase is greater in females than males, roughly twice or even more for all decades. Although at all ages the greatest average increase occurs in cases showing azotaemia, other cases demonstrating either minimal or no significant histological evidence of chronic renal disease in routine histological sections show a considerable increase in oxyphil cells. It is postulated that the oxyphil cells are most likely called in to elaborate a hormone as a defence mechanism to maintain the equilibrium of certain as yet undetermined biochemical constituents. A plea is made for a more accurate assessment of these cells in various disease states. A simple method is outlined for making a quantitative assessment of the number of oxyphil cells.A preliminary investigation of the extent of proliferation of the oxyphil cells in various diseases strongly suggests that significant differences may be present. Finally attention is drawn to the fact that in the rare situation, but now likely to be more frequent, where a partial parathyroidectomy follows renal transplantation it will be possible to ascertain what happens to the oxyphil cells following relief of the azotaemic state. Correlation of the histological changes with alterations of electrolyte and acid base studies may well elucidate the significance of these cells.

The pathology of the parathyroid glands in two cases in which hyperparathyroidism was associated with chronic renal disease and 10 in which the association was with the malabsorption syndrome is described. It is concluded that whereas in chronic renal disease the development of an autonomous adenoma may be preceded by anatomical secondary diffuse hyperplasia such a stage is not proven when the adenomas develop against a background of the malabsorption syndrome. The importance of this latter association is stressed.