Klinefelter’s syndrome

Klinefelter’s syndrome

Affects 1 in 1000 males

Karyotype :  47XXY or 46XY/47XXY mosaicism

The main pathological abnormality is dysgenesis of the seminiferous tubules. Mostly by puberty hypogonadism is evident.

Clinical features :

·         Usually presents during adolescents with gynecomastia and failure to progress normally through puberty.

·         Small, firm testis

·         Tall stature (due to delayed or lack of epiphyseal closure)

·         Learning difficulties and behavioural disorders (rarely)

·         Predisposition to type 2 DM in later life.

·         46XY/47XXY mosaicism may pass through the puberty uneventfully and is usually diagnosed as a part of infertility treatment.

Diagnosis

                Karyotype analysis.

Treatment

                Androgen replacement