How To Treat Kallmann Syndrome

Kallmann syndrome is an uncommon genetic disorder characterized by a marked delay or complete absence of indications of puberty and an apparent impairment or absence in the sense of smell. Kallmann syndrome occurs in an individual because they have a deficiency in a hormone called gonadotropin-releasing hormone (GnRH) caused by one or more inherited genetic mutations. Symptoms of Kallmann syndrome include failure of puberty onset, poor sense of smell, cleft lip, cleft palate, a missing kidney, deafness, abnormally short digits, abnormalities in eye movement, delayed growth spurt, poor sexual function, scoliosis, poor balance, mirror movements, and absence of pubic hair growth. Diagnosis of Kallmann syndrome is made with Tanner staging criteria in a physical examination, biochemical testing of sex steroids and gonadotropin levels, MRI scans, UPSIT test, and molecular genetic testing.

There are several ways Kallmann syndrome can be treated. Learn about them now.

Hormone Replacement Therapy

A Kallmann syndrome patient may need to have hormone replacement therapy as part of their treatment. Hormone replacement therapy in individuals affected by Kallmann syndrome focuses on inducing what would be a normal onset of puberty and then retaining normal hormone levels. For females, estrogen replacement therapy is most often utilized for the purpose of induction of puberty, but low dose ethinylestradiol may also be used. Hormone replacement therapy should be utilized in females with Kallmann syndrome until they reach the age of natural menopause. For males affected by Kallmann syndrome, puberty is often initiated with the use of low-dose testosterone therapy that is slowly titrated up to the appropriate dosage to induce and maintain proper sex hormone levels. Annual testing is done on males to ensure their testosterone dose stays at an optimal level. Some males with Kallmann syndrome may be able to come off of hormone replacement therapy later in their life if evidence indicating the condition has been reversed is found upon stopping therapy.

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Medication To Improve Bone Health

Medication to improve bone health may need to be used in individuals with Kallmann syndrome. Kallmann syndrome patients are at a higher risk of developing osteoporosis than healthy individuals of the same age. Osteoporosis is a condition in which an individual develops brittle and weak bones due to the breakdown of more bone than the amount being regenerated. Bones grow significantly during an individual's childhood and go through a stage of calcification and strengthening during puberty. Estrogen in females and testosterone in males are hormones that play key roles in this process. Kallmann syndrome, we know, is characterized by an individual who does not experience the onset of puberty and all of the processes that come with it, including this phase of bone calcification and strengthening. Hormone replacement therapy can improve circumstances to a certain degree, but most patients continue to have problems with bone density throughout their life. A range of medications can be used to help maintain or increase bone density in Kallmann syndrome patients, including alendronate, risedronate, ibandronate, and zoledronic acid.

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Reduce Risks Associated With The Loss Of Sense Of Smell

An individual who experiences anosmia will have to reduce risks associated with the loss of sense of smell in order to properly manage their disease. Anosmia can cause an individual affected by Kallmann syndrome to be unable to identify spoiled food, which may lead to subsequent food poisoning. An individual who does not have a good sense of smell is at a greater risk of harm by smoke inhalation and fires due to their reduced ability to detect the smell of something burning. A Kallmann syndrome patient can also have difficulty detecting chemical smells and other dangerous odors, which can cause lung toxicity and damage. This danger can be mediated by ensuring there are enough gas and smoke detectors in working condition in the patient's home. These detectors include propane detectors, carbon monoxide detectors, gasoline detectors, smoke detectors, and natural gas detectors. Labeling foods and chemicals can help them make sure patients do not consume spoiled food, use too much of a strong chemical, or mix dangerous chemicals.

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Regular Checkups

An individual who has Kallmann syndrome will need to have regular checkups to manage their disease effectively and prevent future complications. Most Kallmann syndrome patients are treated with the use of hormone replacement therapy, which needs to be closely monitored and managed by an endocrinologist or physician who specializes in hormones. A regular checkup is also important to check for problems with bones, as individuals affected by Kallmann syndrome are at a higher risk of developing osteoporosis and experiencing fractures than others. A Kallmann syndrome patient who has congenital heart disease will need to have regular checkups with a cardiologist to ensure their heart is healthy. Regular checkups help identify adrenal insufficiency before it becomes serious or even deadly. If an individual affected by Kallmann syndrome wishes to restore their fertility, regular checkups are required to ensure the process of doing so maintains its efficacy.

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Ensure Adequate Vitamin D And Calcium Intake

Ensuring adequate vitamin D and calcium intake in a Kallmann syndrome patient can be a vital part of their treatment process. Approximately forty-three percent of all individuals affected by Kallmann syndrome become deficient in vitamin D or calcium at some point. Individuals who are at a high risk of developing bone issues like osteoporosis need to ensure they are eating enough food or supplementing to meet their daily values of both vitamin D and calcium. Without vitamin D, the body is unable to absorb calcium successfully from an individual's dietary intake. However, vitamin D can be generated in the body from exposure to the sun. Individuals from nine to eighteen years old should get 1,300 milligrams of calcium and four hundred IU of vitamin D every day. Individuals between nineteen and forty-nine years old should get one thousand milligrams of calcium and four to eight hundred IU of vitamin D per day. Individuals who are fifty years old or older should get 1,200 milligrams of calcium and eight hundred to one thousand IU of vitamin D every day. Many Kallmann syndrome patients take prescription supplements of calcium andvitamin D to help balance out their deficiency.