The psychosocial impact of klinefelter syndrome
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The psychosocial impact of Klinefelter syndrome. A 10 year review. Background. Klinefelter syndrome (KS) 2 nd most common chromosomal disorder Prevalence 1 in 600 males (population studies) 47 XXY karyotype predominantly. Phenotype.

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Background
Background

  • Klinefelter syndrome (KS) 2nd most common chromosomal disorder

  • Prevalence 1 in 600 males (population studies)

  • 47 XXY karyotype predominantly


Phenotype
Phenotype

  • Classic phenotype of tall stature, eunuchoid body habitus, poor musculature, sparse facial hair, small testes, gynaecomastia

  • Significant learning impairments, predominately with language acquisition

  • Association with Type 2 diabetes mellitus, autoimmune disorders (eg thyroiditis/ coeliac disease), maligncies including testicular teratoma/seminoma, yolk sac tumour, male breast cancer, leukaemia


Phenotype cont
Phenotype cont

  • Often only present when fertility problems

  • Majority remain undetected (up to two thirds) - usu have decreased gonadal size, elevated gonadotrophins, decreased bone mass


Objectives
Objectives

  • Describe psychosocial morbidity in KS

  • Document the effect of androgen replacement on behaviours

  • Underline issues confronting clinicians involved in their management

  • Demonstrate the need for structured program for prospective intervention


Patients and methods
Patients and methods

  • Retrospective clinical case audit of pts with KS from RCH Melb 1994 – 2004

  • Medical records using ICD10 coding, Dept of Endocrine database and consultants’ memories

  • Data collected from pt notes only

  • Given interest in effects of testosterone deficiency/replacement, postpubertal pts studied only


Results
Results

  • 42 pts with KS were found

  • 32 of these pts were postpubertal

  • Median age 24.5yrs

  • 11/32 (34%) - Gynaecomastia

  • 3/32 (9%) – Epilepsy

  • 5/32 (16%) – Undescended testes

  • 3/32 (9%) - Malignancy


Diagnosis
Diagnosis

  • 8/32 – diagnosed in childhood following chromosomal analysis as part of Ix for dev delay/behavioural disorder

  • 11/32 presented with pubertal delay/arrest


Hormonal replacement
Hormonal replacement

  • 17/32 required testosterone treatment (administered via s/c pellet)

  • 11/32 – testosterone replete despite raised FSH/LH

  • 3/32 – lost to follow up, 1/32 deceased (ALL)

  • None had used ICSI for Mx of infertility


Psychosocial characteristics
Psychosocial characteristics

  • 23/32 – documented problems with aggression/impulse control

  • 9/32 police involvement

    • Drugs/alcohol (3)

    • Rape/attempted rape (4)

    • Theft (4) (NB – 2 multiple charges)


Psychosocial cont
Psychosocial cont

  • 6 pts – convictions, 2 incarcerated

  • Repetition of offences characterises the group

  • Poor self esteem, depression and aggression – repeated job losses/failure of permanent employment

  • Morbid depression with suicidal ideation a characteristic pattern


Psychosocial cont1
Psychosocial cont

  • Documented learning difficulties in 23/32 pts

  • None had achieved a tertiary education


Change in behaviour with testosterone
Change in behaviour with testosterone

  • 8/17 pts on regular (24 weekly) testosterone treatment intermittently late by 1- 2 months

  • Exacerbation of psychosocial disorder with increased frequency of job loss and/or criminal events documented for 17 events in these 8 pts


Comparator group kallmann syndrome
Comparator group - Kallmann syndrome

  • Hypogonadotrophic hypogonadism, no known behavioural phenotype

  • 21 pts in same time frame

  • Major issue - isolated testosterone deficiency

  • Predominantly normal psychosocial profile

  • 5 - mild depression, 4/5 mild aggressive tendency, alleviated by T therapy


Discussion
Discussion

  • Testosterone in hypogonadal males leads to amelioration of aggression rather than exacerbation

  • Poor executive function and aggression leads to predictable pattern of behaviour in severely affected KS pts

  • Vicious cycle of poor planning and impaired judgement, then failure to learn from mistakes


Discussion cont
Discussion cont

  • No formal structure in place to assist men with KS either for ongoing physical surveillance or psychosocial support


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