Kallman syndrome/hypogonadotropic hypogonadism

Overview

What is Kallmann Syndrome?

Kallmann Syndrome is an inherited form of hypogonadotropic hypogonadism, which means the genitals are small and puberty is delayed or absent due to a problem with the sex hormones. Kallmann Syndrome is unique because individuals cannot smell (anosmia) or have a diminished sense of smell (hyposmia). The diagnosis is usually made in adolescence because puberty is delayed or absent. Underdeveloped genitals and delayed puberty can be treated with hormone therapy. People with Kallmann syndrome are infertile, but this can also usually be treated with hormones.

Symptoms can vary widely, even among the same family (variable expressivity). Other possible symptoms include absence of one or both kidneys, a split in the lip or roof of the mouth called a cleft, abnormal movement of the hands where one mirrors the other (bimanual synkinesis), inability to hear, and missing teeth.

There are many types of hypogonadotropic hypogonadism (HH). Kallmann syndrome, a type of HH, has been divided into four different types.

There are many genes known to cause Kallmann Syndrome. There are multiple inheritance patterns including X linked, autosomal dominant, and autosomal recessive.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/kallman-syndrome-hypogonadotropic-hypogonadism/overview/8080 • DATE UPDATED: 2016-06-14

References

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