Klinefelters syndrome
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Klinefelters Syndrome. Amy Batley Feb 2012. Dr Harry Klinefelter Jnr. 1942 Massachusetts Described men TALL HYPOGONADISM NO SPERM SPARSE HAIR GYNAECOMASTIA. Epidemiology. Most common sex chromosome disorder Approx 1.7/1000 male births All ethnicity. Genetics.

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Klinefelters Syndrome

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Klinefelters syndrome

Klinefelters Syndrome

Amy Batley

Feb 2012


Dr harry klinefelter jnr

Dr Harry Klinefelter Jnr

  • 1942

  • Massachusetts

  • Described men

    • TALL

    • HYPOGONADISM

    • NO SPERM

    • SPARSE HAIR

    • GYNAECOMASTIA


Epidemiology

Epidemiology

  • Most common sex chromosome disorder

  • Approx 1.7/1000 male births

  • All ethnicity


Genetics

Genetics

  • Normally 46 XY (Man)

  • In Klinefelters mainly an xtra X (47XXY)

  • But variations occur

  • 48 XXYY, mosaic- 47XXY/46XY


Presentation

Presentation


Features

Features


Features1

Features


Features2

features

  • Loss of libido,

  • Reduced power and muscle strength

  • Tiredness

  • Osteoporosis

  • Depression

  • At risk heart disease


Investigations

Investigations

  • Serum testosterone is low /low normal

  • Fsh and lh are raised

  • Chromosomal analysis to confirm


Associations

Associations


Management

Management

  • Endocrine/genetics/psychologist/

    Speech therapist

  • Testosterone replacement (just prior to puberty)

  • Breast education

  • Fertility treatment ICSI AID

  • Plastic - gynaecomastia


Prognosis

Prognosis

  • Lifespan is normal


Kallmann syndrome

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.


Marfans

Marfans

  • connective tissue disorder

  • tall stature, elongated extremities, subluxation of the lens,

  • dilatation of the ascending aorta

  • "pigeon breast."

  • autosomal dominant


Hypopituitary

Hypopituitary

  • reduced pituitary hormone levels.

  • growth hormones

  • prolactin

  • TSH

  • ADH


Questions

Questions


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