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Kallmann Syndrome, Microdeletion Xp22.31

Clinical Features

Features of the Kallmann syndrome are a hypogonadotropic hypogonadism and anosmia. Low or absent FSH and LH absence of pubescence. Signs of Kallmann syndrome in males are: Gynekomastia, tall stature with long limbs, hypogenitalism, cryptorchism and failure of the sense of smell due to absence of the bulbus and tractus olfaktorius. Renal malformations or defective hearing may arise. Females can be affected or can show distinct milder symptoms.

Genetic Information

Autosomal dominant, autosomal recessive and X-chromosomal recessive inheritance is described in Kallmann syndrome, the X-chromosomal is the most common one. Beside mutations in the KAL1 gene (Xp22.3) deletions of variable size in this region of the short arm of the X chromosome are responsible for Kallmann syndrome und related symptoms (Ichthyosis, okular albinism, mental retardation).

Prevalence

males: 1 : 10 000

females: 1 : 50 000

Diagnostic