Adrenal axis functions in patients with familial Mediterranean fever.

OBJECTIVE: Familial Mediterranean fever (FMF) is a hereditary disease characterized by recurrent attacks of fever with peritonitis, arthritis, pleuritis or erysipelas-like rash. It is unclear what effects of FMF itself on endocrine system and hormones are. None of the FMF patients without amyloidosis have been reported to have any endocrine disorders, except those who developed colchicine-induced diabetes insipidus. There is a large body of evidence to show that cytokines (IL-1, IL-6 and TNF-alpha) activate the hypothalamic-pituitary-adrenal (HPA) axis. We have designated this study to investigate the HPA axis in FMF patients without amyloidosis. METHODS: Twenty-one patients with FMF were included. ACTH stimulation test was performed on the healthy subjects and during attack period in the patients. In the patient group, same test was repeated during remission period. RESULTS: Peak cortisol levels were significantly higher in the attack period than those in the remission period of patients (p<0.05). CONCLUSION: The cytokines play a role on the activation of the HPA axis; we thought the axis would be affected in this disease. The response of cortisol to 250 mug ACTH was significant in attack period when compared with remission period. This result reveals that HPA axis is more activated in an FMF attack. Previous studies suggest that the adrenal hormones increase in acute inflammatory events, and eventually, the changes on these hormones are related to TNF and IL-6 levels. During the FMF attack, HPA axis may be stimulated by cytokines. It seems that HPA axis is regulated normally in FMF patients.

Cytogenetic results of patients with infertility in middle anatolia, Turkey: do heterochromatin polymorphisms affect fertility?

INTRODUCTION: Infertility is a significant multifactorial disorder that can be caused by chromosomal abnormalities. In this study, we aimed to cytogenetically investigate male and female patients admitted to the Genetic Diagnostic Laboratory of Kayseri Educational Hospital in Kayseri, Turkey with varied clinical prediagnoses of infertility. MATERIALS AND METHODS: Chromosomes from cultured peripheral blood lymphocytes of 274 patients and 427 individuals as the controls were analyzed using GiemsaTrypsin-Giemsa (GTG) banding. The individuals with sex chromosome aneuploidy or mosaicism were classified as carriers and with chromosomal polymorphism, respectively. The results of the two groups were compared statistically. RESULTS: Pure sex chromosome aneuploidy was found in 29 (10.5%) patients and mosaic sex chromosome aneuploidy in 15 (5.5%) cases and the total rate of abnormalities was 16%. Karyotypes were composed of an overall polymorphism rate of 8% in the patient and 4% in the control groups with no statistically significant difference (p = 0.2 and p > 0.05, respectively). CONCLUSION: The present study shows that chromosomal polymorphisms are common among infertile patients. Chromosomal abnormalities and even heteromorphisms are significant etiologic factors leading to fertility problems. The overall high prevalence of chromosomal polymorphisms in infertile couples, compared to the normal population, needs to be confirmed with further investigations and larger study populations to delineate the role of "harmless" chromosomal aberrations in the etiology of infertility.