Puberty, stress, and sudden death.

摘要

In September, 2008, a 22-year-old man was referred for investigation of delayed puberty. He was thin (BMI 17.1 kg/m~2) but had no history of anorexia nervosa. Neurological examination and sense of smell were normal; testes volumes were 2 mL and 3 mL [normal, 15-25 mL]. Concentrations of gonadotropins were not elevated (FSH 4.1 IU/L [normal 1.3-13.5], LH 0.77 IU/L [1.2-10]) and testosterone was 0 . 9 nmol/L [9-30], consistent with a central form of hypogonadism; prolactin concentration was normal. During a gonadotropin stimulation test, he became weak and dizzy; blood pressure was 90/40 mm Hg, sodium 119 mmol/L, and potassium 5.4 mmol/L At this time, we noticed that he was pigmented, and on further questioning we found that he had had previous episodes of weakness, especially during concurrent illnesses. We suspected adrenal insufficiency and treated him with intravenous hydrocortisone, which led to a rapid improvement in symptoms. Basal cortisol concentration before treatment was 290 nmol/L (180-500), but corticotropin was 297 pmol/L (0-11) (figure). On more detailed questioning we found that his older brother had presented at 18 years of age with features of hypogonadism that had been treated with testosterone. He also had a normal basal cortisol concentration, but a poor response to co-syntropin stimulation on two occasions, and slightly raised concentrations of corticotropin (20-47 pmol/L; figure). Although further review of adrenal function had been planned, our patient's brother died suddenly during intensive physical activity.