Strategies and advantages of early diagnosis in Klinefelter's syndrome

Nearly 70 years after its description, Klinefelter's syndrome (KS) remains a largely undiagnosed condition. In addition to its typical characteristics of increased follicle-stimulating hormone secretion and small and firm testes, the syndrome presents an extremely wide spectrum of phenotypes. T...

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Bibliographic Details
Published in:Molecular human reproduction 2010-06, Vol.16 (6), p.434-440
Main Authors: Radicioni, A.F., De Marco, E., Gianfrilli, D., Granato, S., Gandini, L., Isidori, A.M., Lenzi, A.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age Factors
aneuploidy
Awareness
Child
Child, Preschool
diagnosis
Diagnostic Techniques, Endocrine
Early Diagnosis
Humans
hypogonadism
Infant
Infant, Newborn
Klinefelter
Klinefelter Syndrome - diagnosis
Klinefelter Syndrome - physiopathology
Male
Neonatal Screening - methods
Prenatal Diagnosis - methods
Puberty - physiology
testosterone
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Summary:Nearly 70 years after its description, Klinefelter's syndrome (KS) remains a largely undiagnosed condition. In addition to its typical characteristics of increased follicle-stimulating hormone secretion and small and firm testes, the syndrome presents an extremely wide spectrum of phenotypes. This could be explained by the possible presence of chromosomal mosaicism, androgen receptor polymorphisms and related heterogeneous endocrine abnormalities. The varied but relatively mild physical abnormalities also explain why many patients do not receive clinical attention until adulthood, when they seek medical advice on small testes or infertility. Diagnosis is also hindered by the low awareness of the disease among health professionals. This paper aims to review the possible signs of KS at different stages of life that could help achieve an early (or at least earlier) diagnosis. It has been demonstrated that the early diagnosis of KS improves patients' quality of life and enables better medical treatment. To achieve this, it is crucial to increase both medical and general awareness of the disease, including through use of the media and patients' associations.
ISSN:1360-9947
1460-2407
DOI:10.1093/molehr/gaq027