Klinefelter Syndrome

Overview

A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Klinefelter Syndrome

Topic type

Condition

Category

Urology / Fertility

MeSH classification

C12.050.351.875.253.795.500|C12.200.706.316.795.500|C12.800.316.795.500|C16.131.260.830.835.500|C16.131.939.316.795.500|C16.320.180.830.835.500|C19.391.119.795.500|C19.391.482.629

Preparing for an appointment about Klinefelter Syndrome

If you are speaking with a healthcare professional about Klinefelter Syndrome, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

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