Homozygous protein C deficiency with delayed onset of symptoms at 7 to 10 months.

We report an inbred family with two cases of homozygous protein C deficiency and review 11 other such cases. Both patients presented in the second half of their first year of life with recurrent rapidly disappearing ecchymotic skin lesions, disseminated intravascular coagulation, and venous thrombosis. Successful treatment has been achieved by frequent infusions of plasma or prothrombin complex then maintained with Warfarin. Homozygous recessive protein C deficiency usually presents in the neonatal period with purpura fulminans. Two cases have been described elsewhere which presented in the second decade of life with milder symptoms. The present cases appear to be intermediate in time of presentation and severity of symptoms. We also review the distinction that is now evident between recessive and dominant protein C deficiency.

Effect of exposure to the altitude of 300 meters below sea-level on testosterone, luteinizing hormone, follicle-stimulating hormone and prolactin in man.

Serum testosterone, luteinizing hormone (LH), follicle-stimulating hormone (FSH) and prolactin (PRL) responses to exposure to sea-level altitude (LA) were examined in 13 eugonadal males, age 21-22 yr, 3 and 5 days after residing at LA and on the second day of return to basal altitude 90 days later. After 3 days at their respective residence altitude, there was elevation in LH (p less than 0.05) and depression in testosterone levels (p less than 0.05), with similar results on day 5. These effects were all of transient nature, LH and testosterone concentrations returned to their basal levels on second day of the return to basal altitude. The FSH and PRL levels did not show any significant change during the stay at LA or after return to basal altitude. The observations suggest that exposure to LA is associated with increase in plasma levels of LH and decrease in testosterone. The decreased levels of testosterone could be due to a reduction in the sensitivity of the testis to LH, or due to inhibition of steroidogenesis in the testis.