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.

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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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