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2017 ; 2017
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A case of Klinefelter syndrome with hypersexual desire
#MMPMID28883919
Okolie K
; Perampalam S
; Barker A
; Nolan CJ
Endocrinol Diabetes Metab Case Rep
2017[]; 2017
(ä): ä PMID28883919
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Klinefelter syndrome (KS) is a chromosomal disorder affecting males, with the
typical karyotype of 47,XXY due to a supernumerary X chromosome, which causes
progressive testicular failure resulting in androgen deficiency and infertility.
Despite it being the most common sex chromosomal disorder, its diagnosis is
easily missed. In addition to its classical clinical features of tall stature,
gynaecomastia, small testes, and symptoms and signs of hypogonadism including
infertility, 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 and
psychiatric aspects of KS, this unusual presentation of hypersexuality in a man
with KS, and the challenges of medical management of hypogonadism in a man with a
history of a sexual offence. LEARNING POINTS: Klinefelter syndrome (KS) is common
in men (about 1 in 600 males), but the diagnosis is very often missed.In addition
to classic features of hypogonadism, patients with KS can often have associated
neurocognitive, behavioural and/or psychiatric disorders.More awareness of the
association between KS and difficulties related to verbal skills in boys could
improve rates of early diagnosis and prevent longer-term psychosocial
disability.Hypersexuality in the context of hypogonadism raises the possibility
of sex steroid independent mechanistic pathways for libido.Testosterone
replacement therapy in KS with hypersexuality should be undertaken with caution
using a multidisciplinary team approach.