Differentiating Klinefelter's Syndrome from other Diseases

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Template:Klinefelter's Syndrome Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Eiman Ghaffarpasand, M.D. [2]


Klinefelter's syndrome must be differentiated from other diseases that cause latency in secondary sexual characteristics development, such as constitutional delay of puberty, hypopituitarism, delayed puberty, and chromosomal abnormalities. Chromosomal abnormality is Noonan's syndrome.

Differentiating Klinefelter's syndrome from other diseases

Diseases Laboratory Findings Physical examinations Other Findings
GnRH LH FSH Estradiol Testosterone Lack of secondary sexual characteristics Amenorrhea Webbed neck Final height
Klinefelter's syndrome - + - - Nl Testicular dysgenesis
Delayed puberty Primary hypogonadism + + - -
Secondary hypogonadism + + - -
Constitutional delay of puberty Nl Nl Nl Nl Nl + + - Nl Normal puberty, finally
Hypopituitarism + + - -
Noonan's syndrome - + - + Nl Mitral valve prolapse
Outflow tract obstruction

(imperforate hymen or transverse vaginal septum)

Nl Nl Nl Nl Nl - + - Nl Imperforate hymen

Perirectal mass

Bulging hymen with hematocolpos

Mayer-Rokitansky-Kuster-Hauser syndrome Nl Nl Nl Nl Nl - + - Nl Variable absence of Mullerian structures in pelvic ultrasound