Male hypogonadism due to an extra X chromosome.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Reproductive endocrinology
- Sex & age distribution
- Male: affected only; Female: not applicable; Children: yes, often diagnosed in adolescence or adulthood
- Gene(s) involved
- SHOX
- Alternative names & eponyms
- 47,XXY
Etiology & mechanism
Supernumerary X chromosome causes testicular failure.
Gene(s) involved (1)
Symptoms & signs (9)
In plain terms, someone with Klinefelter syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Triple X syndrome
learning difficulties, tall stature
2 shared
XYY syndrome
learning difficulties, tall stature
1 shared
Aarskog–Scott syndrome
delayed puberty
1 shared
Androgen insensitivity syndrome
infertility
1 shared
Asherman syndrome
infertility
1 shared
Bloom syndrome
infertility
1 shared
Börjeson–Forssman–Lehmann syndrome
gynecomastia
1 shared
Chiari–Frommel syndrome
infertility
1 shared
Hyperprolactinemia–galactorrhea syndrome
infertility
1 shared
Kallmann syndrome with neurological involvement
delayed puberty
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