A case of Klinefelter syndrome with hypersexual desire

[摘要] Klinefelter syndrome (KS) is a chromosomal disorder affecting males, with the typical karyotype of 47,XXY due toa supernumerary X chromosome, which causes progressive testicular failure resulting in androgen deficiency andinfertility. Despite it being the most common sex chromosomal disorder, its diagnosis is easily missed. In addition to itsclassical clinical features of tall stature, gynaecomastia, small testes, and symptoms and signs of hypogonadism includinginfertility, KS is also often associated with neurocognitive, behavioural and psychiatric disorders.We present a 44-year-old man with KS who, despite having erectile dysfunction, paradoxically had increased libido.He used sildenafil to overcome his erectile dysfunction. Hypersexuality was manifested by very frequent masturbation,multiple sexual partners most of whom were casual, and a sexual offence conviction at the age of 17 years.Discussion focuses on the frequent failure of clinicians to diagnose KS, the neurocognitive, behavioural andpsychiatric aspects of KS, this unusual presentation of hypersexuality in a man with KS, and the challenges of medicalmanagement of hypogonadism in a man with a history of a sexual offence.

[学科分类] 血液学