Diagnosis and Treatment > Signs and Symptoms
Search for other papers by Kingsley Okolie in
Google Scholar
PubMed
Australian National University Medical School, Canberra, ACT, Australia
Search for other papers by Sumathy Perampalam in
Google Scholar
PubMed
Search for other papers by Anthony Barker in
Google Scholar
PubMed
Australian National University Medical School, Canberra, ACT, Australia
Search for other papers by Christopher J Nolan in
Google Scholar
PubMed
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.
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
Search for other papers by B Cangiano in
Google Scholar
PubMed
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
Search for other papers by C Cacciatore in
Google Scholar
PubMed
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
Search for other papers by L Persani in
Google Scholar
PubMed
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
Search for other papers by M Bonomi in
Google Scholar
PubMed
We describe a case of severe erythrocytosis caused by testosterone replacement therapy in a 66-year-old man affected with hypogonadotropic hypogonadism (HH) determining osteoporosis, resolved by switching to restoration therapy with clomiphene citrate. The patient complained fatigue, loss of libido and defective erections and a spontaneous vertebral fracture despite bisphosphonate therapy and vitamin D supplementation. The examinations proved isolated HH and he was therefore treated with testosterone gel with regression of specific manifestations but elevated hemoglobin and hematocrit values. Therefore, it was decided to switch to a restoration therapy with clomiphene citrate 25 mg/die, which resulted in the resolution of symptoms without evident side effects. In a couple of months, the patient showed normalization of testosterone levels and increment of testicular volume. Since secondary hypogonadism is the consequence of an insufficient stimulation of the gonads by hypothalamic–pituitary axis, therapeutic approaches aimed to restore endogenous testosterone production should be considered in alternative to testosterone replacement, particularly if side effects intervene. Among these strategies, clomiphene citrate seems to have a high efficacy and safety profile also in the elderly with isolated HH and no evident pituitary lesion.
Learning points:
-
Hypogonadism should always be assessed in patients with severe loss in BMD and undergo appropriate medical treatment.
-
In hypogonadotropic hypogonadism, more approaches are available other than testosterone replacement therapy alone.
-
In patients with severe late-onset central hypogonadism presenting with erythrocytosis even at low doses of replacement therapy, restoration therapy with clomiphene could prove to be an effective solution, particularly in patients with a reversible disruption of GNRH/gonadotropin functions.
-
Clomiphene citrate increases gonadotropin levels and testicular volume and should therefore be considered in hypogonadal men who wish to remain fertile.
