Klinefelters Syndrome

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Klinefelters Syndrome

• Amy Batley
• Feb 2012

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Dr Harry Klinefelter Jnr

• 1942
• Massachusetts
• Described men
• TALL
• HYPOGONADISM
• NO SPERM
• SPARSE HAIR
• GYNAECOMASTIA

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Epidemiology

• Most common sex chromosome disorder
• Approx 1.7/1000 male births
• All ethnicity

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Genetics

• Normally 46 XY (Man)
• In Klinefelters mainly an xtra X (47XXY)
• But variations occur
• 48 XXYY, mosaic- 47XXY/46XY

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Presentation
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Features
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Features
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features

• Loss of libido,
• Reduced power and muscle strength
• Tiredness
• Osteoporosis
• Depression
• At risk heart disease

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Investigations

• Serum testosterone is low /low normal
• Fsh and lh are raised
• Chromosomal analysis to confirm

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Associations
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Management

• Endocrine/genetics/psychologist/
• Speech therapist
• Testosterone replacement (just prior to puberty)
• Breast education
• Fertility treatment ICSI AID
• Plastic - gynaecomastia

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Prognosis

• Lifespan is normal

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Kallmann syndrome

• Kallmann Syndrome A rare inherited condition
• hypogonadism, eunuchoidism
• impaired or absent sense of smell.
• failure of a part of the hypothalamus which
  results in hormonal imbalance.

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Marfans

• connective tissue disorder
• tall stature, elongated extremities, subluxation
  of the lens,
• dilatation of the ascending aorta
• "pigeon breast."
• autosomal dominant

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Hypopituitary

• reduced pituitary hormone levels.
• growth hormones
• prolactin
• TSH
• ADH

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Questions