Symptoms in Adulthood if Left Untreated
Untreated Kallmann syndrome can lead to the progression and aggravation of symptoms as individuals reach adulthood. In men, the condition may result in decreased muscle mass, bone loss, a decline in sexual desire, infertility, and erectile dysfunction. Women who do not receive treatment for Kallmann syndrome typically experience the absence of menstrual periods and may have minimal or no breast development.
Diagnosis
When it comes to diagnosing Kallmann syndrome, medical professionals typically start with a physical examination and a comprehensive health history assessment. During this process, doctors inquire about any symptoms related to delayed puberty and any potential olfactory impairments. Since Kallmann syndrome often runs in families, physicians also keep an eye out for any relatives who have experienced issues with fertility or delayed puberty.
If Kallmann syndrome is suspected, the doctor may request laboratory tests to evaluate hormone levels or conduct genetic testing to identify specific gene mutations. Additionally, an MRI scan may be recommended to identify any structural abnormalities in the brain that could be contributing to the condition.