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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 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 • Normally 46 XY (Man) • In Klinefelters mainly an xtra X (47XXY) • But variations occur • 48 XXYY, mosaic- 47XXY/46XY
features • Loss of libido, • Reduced power and muscle strength • Tiredness • Osteoporosis • Depression • At risk heart disease
Investigations • Serum testosterone is low /low normal • Fsh and lh are raised • Chromosomal analysis to confirm
Management • Endocrine/genetics/psychologist/ Speech therapist • Testosterone replacement (just prior to puberty) • Breast education • Fertility treatment ICSI AID • Plastic - gynaecomastia
Prognosis • Lifespan is normal
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 • connective tissue disorder • tall stature, elongated extremities, subluxation of the lens, • dilatation of the ascending aorta • "pigeon breast." • autosomal dominant
Hypopituitary • reduced pituitary hormone levels. • growth hormones • prolactin • TSH • ADH