Context: Tumor necrosis factor (TNF)-receptor-associated periodic syndrome (TRAPS) is a hereditary fever syndrome which results from mutations in the TNF-receptor superfamily 1A gene (TNFRSF1A). It is characterized by periodic fever, arthralgia, abdominal pain, myalgia, headache, and skin lesions.

Objective: Since adrenal and gonadal hormone cascades are modulated by TNF, this study aimed to investigate specific hormones and enzyme steps during an attack phase in a women with TRAPS.

Design: Morning blood samples were taken from a 38 yr-old women before, during, and after the febrile episode in the late luteal, menstrual, and early follicular phase of the menstrual cycle, respectively.

Results: Serum cortisol levels were markedly increased throughout the entire observation period and demonstrated a dip during the attack phase. In contrast, serum levels of dehydroepiandrosterone (DHEA) and 17-hydroxyprogesterone demonstrated a sharp rise during the febrile episode. DHEA in relation to androstenedione or cortisol was increased. Indicative of aromatase activation, estrone and 17-estradiol demonstrated a marked increase during the attack phase.

Conclusion: This study suggests that some important steroid hormone conversion steps are activated (aromatase) and inhibited (second step of the P450c17 and the 3-hydroxysteroid dehydrogenase) during the inflammatory attack phase in a TRAPS patient. These changes of enzyme pathways are typical on the basis of increased TNF signaling.