EASILY MISSED? Klinefelter's syndrome

KEY POINTS Klinefelter's syndrome (47,XXY) has wide phenotypic variability. Small testes and infertility are present in almost all patients. More variable clinical findings include decreased facial and pubic hair; tall, slender body habitus; history of gynecomastia; decreased libido; and learni...

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Bibliographic Details
Published in:BMJ (Online) 2013-01, Vol.346 (7889), p.33-34
Main Authors: Blevins, Christopher H, Wilson, Michael E
Format: Article
Language:English
Subjects:
Diabetes
Gynecomastia
Hair
Hormones
Hypogonadism
Klinefelter syndrome
Luteinization
PRACTICE
Sex hormones
Testes
Testosterone
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Summary:KEY POINTS Klinefelter's syndrome (47,XXY) has wide phenotypic variability. Small testes and infertility are present in almost all patients. More variable clinical findings include decreased facial and pubic hair; tall, slender body habitus; history of gynecomastia; decreased libido; and learning disabilities or psychosocial or behavioral concerns If Klinefelter's syndrome is suspected, check serum luteinising hormone, follicular stimulating hormone, and testosterone concentrations; if gonadotropin concentrations are abnormal, consider specialty referral and chromosome analysis Klinefelter's syndrome is associated with increased risk of osteoporosis, diabetes mellitus, venous thromboembolism, and breast cancer
ISSN:0959-8138
1756-1833