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

Presentation PRESENTATION Delayed speech Learning difficulties (varying) Truncal obesityHypogonadism Subfertility / impotence Failure of sexual maturation Rapid growth mid childhood Gynaecomastia

Features

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

Associations hypothyroid Insulin resistance Germ cell tumours PSYCHSpeech dely Breast cancer x50 Lung diseas

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

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