Kallmann Syndrome Health Article

Treatment and management

When a child with KS is born with structural abnormalities such as cleft lip and/or palate, clubfoot or heart defects, surgery is often required to fix the defect. Taking sex hormones treats delayed puberty; women take estrogen and men take testosterone. Once puberty is completed, taking GnRH or both LH and FSH can treat hypogonadism. For most affected individuals, treatment is successful and infertility is reversed. However, a small portion of people will not respond to treatment.

When an isolated case of Kallmann syndrome is diagnosed, evaluation of first-degree family members, such as parents and siblings, should be completed. This should include a detailed family history, measuring hormone levels, assessing sense of smell, and renal ultrasound to look for kidney abnormalities. This information may help to diagnosis previously unrecognized cases of Kallmann syndrome. Furthermore, this information may be important for genetic counseling and determining whom in the family is at risk for also having Kallmann syndrome.

Prognosis

For individuals with the most common features of Kallmann syndrome, hypogonadism and the inability to smell, prognosis is excellent. In most cases, hormone treatment is able to reverse the delayed puberty and hypogonadism. For those individuals with other symptoms of Kallmann syndrome, prognosis can depend on how severe the defect is. For example, structural heart defects can be quite complex and sometimes surgery can not fix them. Furthermore, no treatment is available for the mental retardation in the portion of affected individuals with this symptom.

PERIODICALS

Rugarli, Elena, and Andrea Ballabio. "Kallmann Syndrome: From Genetics to Neurobiology." JAMA 270, no. 22 (December 8, 1993): 2713–2716.

ORGANIZATIONS

American Society for Reproductive Medicine. 1209 Montgomery Highway, Birmingham, AL 35216-2809. (205) 978-5000. <http://www.asrm.com>.

RESOLVE, The National Infertility Association. 1310 Broadway, Somerville, MA 02144-1779. (617) 623-0744. resolveinc@aol.com. <http://www.resolve.org>.

WEBSITES

Pediatric Database (PEDBASE) <www.icondata.com/health/pedbase/files/KALLMANN.HTM>.

Carin Lea Beltz, MS