In Kallmann syndrome 1, the sense of smell is either diminished or completely absent. This feature distinguishes Kallmann syndrome from most other forms of hypogonadotropic hypogonadism, which do not affect the sense of smell. Many people with Kallmann syndrome are not aware that they are unable to detect odors until the impairment is discovered through testing.
Additional signs and symptoms can include a failure of one kidney to develop, a cleft lip or palate, abnormal eye movements, hearing loss, and abnormalities of tooth development. Some affected individuals have a condition called bimanual synkinesis, in which the movements of one hand are mirrored by the other hand.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the sense of smell||90%|
|Hypoplasia of penis||90%|
|Abnormality of the voice||50%|
|Reduced bone mineral density||50%|
|Abnormality of color vision||7.5%|
|Delayed skeletal maturation||7.5%|
|Neurological speech impairment||7.5%|
|Reduced number of teeth||7.5%|
|Rocker bottom foot||7.5%|
|Sensorineural hearing impairment||7.5%|
|Decreased circulating follicle stimulating hormone level||-|
|Decreased circulating luteinizing hormone level||-|
|Hypothalamic gonadotropin-releasing hormone deficiency||-|
|Impaired FSH and LH secretion||-|
|Leydig cell insensitivity to gonadotropin||-|
|Olfactory lobe agenesis||-|
|Sparse pubic hair||-|
|Unilateral renal agenesis||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.