A case of Klinefelter syndrome with hypersexual desire

Abstract

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.

Klinefelter: Which Sexuality?

“…Hyper Sexuality: Of a Few or of Many KS? Kingsley Okolie, a general practitioner, published a case study of hyper sexuality in a 44-year-old KS syndrome patient employed as a supermarket checkout clerk [31]. He had presented in 2014 with a long history of erectile dysfunction, lethargy, low mood and poor concentration.…”

Genetic alterations involved in the expression of the coloring of tortoiseshell and calcial hair in domestic cats males: Review

“…De início, rapazes entram na puberdade com produção de testosterona em níveis normais, que logo depois caem drasticamente, evoluindo para um hipogonadismo. As características fenotípicas só se tornam evidentes após a puberdade (Okolie et al, 2017;Wikström & Dunkel, 2008). A Síndrome de Klinefelter é uma poliploidia cromossômica em que, na maioria dos casos, os homens são inférteis, têm tamanho reduzido dos testículos e redução da produção de andrógeno.…”