What Are The Symptoms Of Kallmann Syndrome?
Kallmann syndrome is an inherited condition that primarily affects the endocrine system. The syndrome is more prevalent in males than in females, and it occurs in an estimated one out of every thirty thousand boys and one out of every twenty thousand girls. Patients with the condition do not produce sufficient quantities of sex hormones, and the syndrome also affects an individual's sense of smell.
To diagnose Kallmann syndrome, the doctor will assess the patient's ability to smell, and he or she will also look for signs of delayed puberty, including delayed breast or pubic hair development. Blood tests are necessary to confirm the diagnosis, and treatment includes hormone replacement therapy. Patients with Kallmann syndrome are normally treated by endocrinologists, and they continue to have regular follow-up appointments throughout adulthood.
Failure To Start Or Complete Puberty
The primary symptom of Kallmann syndrome is a failure to start or complete puberty. Males with this condition frequently have a small penile size and undescended testes, and they typically do not develop facial hair or experience a deepening of the voice at puberty. In females with this syndrome, the breast development that normally occurs around the time of puberty may be delayed, and there might be a delay in the development of pubic hair as well. Girls with Kallmann syndrome usually have absent menstrual periods, and both boys and girls with this condition do not experience the growth spurt that generally occurs during puberty.
Hormone replacement therapy is given to enable patients to start and complete puberty. Boys are given testosterone, and girls receive progesterone and estrogen. Hormone replacement needs to be continued on a long-term basis, and it can be taken by injection and sometimes by mouth. In order to have children, Kallmann syndrome patients will be given additional hormonal therapy.
Issues With Sense Of Smell
Issues with sense of smell are observed in the majority of Kallmann syndrome patients. The patient's sense of smell may be diminished, or it could be completely absent. Many patients may be unaware they have this issue until they are evaluated for Kallmann syndrome. To check a patient's sense of smell, doctors may ask the patient to close their eyes and to place a finger over one nostril to block it. While the patient's eyes are closed, the doctor will hold a substance such as coffee or a piece of orange directly underneath the patient's nose.
The patient will be asked to identify the substance the doctor is holding. Each nostril will be tested separately, and patients might have the test repeated. Currently, there is no treatment available to restore a diminished or absent sense of smell. Patients who have this symptom might be unable to smell when food has spoiled, and they could also be unable to smell smoke from a fire. To counteract this, patients can take precautions such as installing updated smoke detectors and adhering to printed expiration dates on food packages.
