The treatment of Kallmann syndrome typically involves hormone replacement therapy to normalize the sex hormone levels, so as to induce and maintain sexual development. Additional treatment may be required later in life if the individual wishes to start a family. Other factors, such as bone mineral density and the reduced sense of smell, should also be considered in the treatment of the condition.
Hormone Replacement Therapy
The standard treatment for Kallmann syndrome involves hormone replacement therapy to induce puberty and maintain normal hormone levels. The dose usually needs to be tailored to each individual, particularly during certain life stages. For example, dosage adjustment is necessary to induce fertility if the individual desires to conceive.
In male patients, treatment of Kallman syndrome usually involves testosterone therapy. There are various testosterone formulations available that may be used in the treatment of Kallmann syndrome, such as intramuscular injections, and topical patches, gels or liquids. The testosterone therapy usually continues even after puberty has been initiated, to maintain secondary sex characteristics and normal levels of testosterone in the body. If the patient desires to start a family, further treatment with gonadotropins may be required to stimulate testicular growth and initiate sperm production.
In female patients, estrogen and progestin therapy is usually needed to induce secondary sex characteristics. If the patient wishes to attempt conception, further treatment with gonadotropins or pulsatile GnRH can stimulate folliculogenesis, and the production of mature eggs cells. However, in vitro fertilization may be required in some cases to allow patients to conceive a child.
Bone Mineral Density
The reduced levels of sex hormones can also have an impact on health in other ways. For example, bone health can deteriorate significantly over a period of time in which the individual experiences a low circulating level of sex hormones.
It is important for the bone mineral density to be measured and, if needed, treated appropriately, in order to improve bone strength and prevent osteoporosis. Many factors may influence this decision, including the delay of puberty, the duration of hypogonadism, excess of glucocorticoids and history of smoking.
Sense of Smell
Loss or reduced sensitivity to smell, called anosmia, is evident in patients with Kallman syndrome. This can also affect the sense of taste, and may change the appetite of affected individuals. Anosmia can also be dangerous in some situations, as patients may be unable to detect odors such as rancid food, or smoke from a fire.
Unfortunately, there is currently no treatment available to improve the sense of smell. Instead, affected individuals should be aware of the situation and take measures to reduce associated risks. For example, they should avoid eating foods that may have expired, particularly if there is no one else available to confirm the freshness of the food.
Approximately 10-15% of male patients with Kallmann syndrome may be able to have their hypogonadism reversed. For this reason, testing should be conducted to investigate evidence of reversibility, which would have an impact on the treatment. Signs of reversal may include growth in testicular volume and normalized testosterone levels.
Patients with Kallmann syndrome require regular consultations with an endocrinologist, that is, a doctor who specializes in hormone-associated diseases. Other specialists may also be required in some circumstances, such as a cardiologist, neurologist or psychiatrist, depending on the other health conditions associated with it.
Patients may be advised to continue eating a normal healthy diet, unless another health condition (such as heart disease or heart failure) is present which requires specific dietary requirements. It is important, however, that patients have an adequate intake of calcium and vitamin D, to maintain bone strength and reduce the risk of osteoporosis.
Regular checkups are needed, including tests to monitor serum concentrations of various hormone levels. These are required to bring about and maintain the proper hormonal balance. Changes in dosage may be needed, according to the concentration and the normal range of the hormone in unaffected individuals. In particular life stages, changes in therapy and closer support are usually required.
Reviewed by Dr Liji Thomas, MD.