Multifactorial sleep disturbance in Klinefelter syndrome: a case report

Abstract

Background: Klinefelter syndrome (KS), which is related to the presence of an additional X chromosome in a man, is associated with a broad variety of physical and psychosocial impairments. While the focus is usually placed on symptoms related to hypogonadism, such as infertility, recent studies have noted evidence of poor sleep in those patients.

Case description: We report on the case of a 44-year-old man with KS who consulted in our Sleep medicine center for excessive daytime sleepiness and delayed sleep with irregular patterns. Polysomnography (PSG) revealed sleep apnea syndrome, with both obstructive and central apnea. Peripheral temperature monitoring revealed patterns indicative of altered melatonin secretion. The present case report suggests that sleep disturbance in patients with KS appears multifactorial with the occurrence of: obstructive sleep apnea (OSA), iatrogenic central apnea due to testosterone therapy, and circadian sleep/wake disorder.

Conclusions: While this topic warrants larger studies with control groups, this case report suggests there might be specific sleep impairments, associated with three different mechanisms, in patients with KS. Those sleep disorders can worsen psycho-social and cognitive difficulties in those patients, and should therefore be screened for and treated.

Keywords: Klinefelter syndrome (KS); case report; circadian rhythm; sleep; sleep apnea.

Figure 1

Actimetry and distal body temperature (℃) obtained from a wearable ring device (Circular, Paris, France) over a 6 nights and days period. X-axis shows time, from 12:00 to 12:00 (24-h time frame). Left y-axis shows movement velocity (m/s²), and right y-axis shows distal body temperature (℃). The sporadic white spaces correspond to the times the ring had to recharged. Actimetry (black bars) shows signs of sleep-phase disorder, with varying sleep times (periods of inactivity are marked in pale red). Temperature (blue line) analysis shows stable temperature during the night time, evocative of wake sleep-cycle disorder and abnormal melatonin secretion.