diagnosis

Last reviewed 10/2020

diagnosis

KS is typically diagnosed during adulthood when infertility, hypogonadism or gynecomastia are common presentations (1).

• a study carried out between 1990–1993 revealed that 64% of KS patients goes undiagnosed while 10% are diagnosed prenatally and 26% are diagnosed in prepuberty or adulthood (2)
• this was  confirmed in a very large study of the Danish national registry 

Diagnosis of KS is carried out

• prenatally - through invasive techniques such as chorionic villus sampling, amniocentesis and cordocentesis. These should be accompanied by suitable genetic counselling and clinical support (2)
• in the postnatal period
• karyotype analysis of peripheral blood - considered to be the gold standard in diagnosis of KS
• elevated follicle-stimulating hormone, luteinizing hormone and estradiol levels and low to low-normal plasma testosterone levels
• increased urinary gonadotropins - due to abnormal Leydig cell function (3)

Reference:

• (1) Wattendorf DJ, Muenke M. Klinefelter syndrome. Am Fam Physician. 2005;72(11):2259-62. 
• (2) Radicioni AF et al. Strategies and advantages of early diagnosis in Klinefelter's syndrome. Mol Hum Reprod. 2010;16(6):434-40. 
• (3) Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis. 2006;1:42.