Primary familial hypoparathyroidism with an autosomal dominant mode of inheritance.

A family with primary isolated hypoparathyroidism transmitted by an autosomal dominant gene was documented; the proband was a 38-year-old woman with a history of weakness and carpopedal spasm. The family study revealed that 6 out of 13 members belonging to 3 generations were affected by hypoparathyroidism without any evidence of an autoimmune disease. Vertical male-to-male, female-to-female and female-to-male transmission were demonstrated. Having excluded the recessive form of familial hypoparathyroidism, pseudohypoparathyroidism, primary familial hypomagnesemia and any immunological disorder, the autosomal dominant inheritance seems to be the most important etiology of idiopathic hypoparathyroidism.

[Bone scintigraphy in mastectomized patients with and without chemotherapy]. / La scintigrafia ossea in pazienti mastectomizzate, sottoposte o no a chemioterapia.

Follow'ups were conducted on 130 mastectomized patients, periodically subjected to bone scintigraphy in addition to conventional tests. 89 of the patients had received chemotherapy and 41 had not. The results obtained show the value of scintigraphy for both accurate staging and follow-up in such patients.