Klinefelters syndrome
Download
1 / 19

Klinefelters Syndrome - PowerPoint PPT Presentation


  • 86 Views
  • Uploaded on

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.

loader
I am the owner, or an agent authorized to act on behalf of the owner, of the copyrighted work described.
capcha
Download Presentation

PowerPoint Slideshow about ' Klinefelters Syndrome' - amanda-cherry


An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.


- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -
Presentation Transcript
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





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



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



ad