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.

Cleft Palate Or Lip

Some individuals with Kallmann syndrome may have a cleft palate or lip at birth, though this sign does not occur in all cases. A cleft lip is characterized by an opening in the upper lip; this opening could simply be a small slit in the upper lip itself, or it may be a larger opening that extends into the nose. The opening associated with a cleft lip can occur on one or both sides of the lip. Rarely, it could also occur in the center of the lip. Patients with a cleft lip might have a cleft palate too. A cleft palate involves an opening in the roof of the mouth (the palate).

Children with a cleft lip or a cleft palate could experience difficulties with speech, breathing, and feeding, and they might develop ear infections or other hearing issues. Surgery can be performed to correct a cleft lip or palate, and most doctors recommend for it to be completed within the first twelve to eighteen months of a child's life. Some patients may need additional surgery as they grow.

Cerebral Ataxia

Cerebral ataxia may be present for some children with Kallmann syndrome. This symptom involves impaired coordination of voluntary movements like walking or grasping objects. In particular, individuals with Kallmann syndrome could experience a type of coordination impairment known as bimanual synkinesis (mirror hand movements). Patients will try to mirror the movements of one hand with their other hand, and they may have difficulty with tasks that require the left and right hands to make different motions, including playing a musical instrument.

To assess coordination, doctors may observe a patient's gait, and they might ask the patient to touch each finger to their thumb as rapidly as possible. The patient might also be asked to walk on their toes or heels or to walk in a straight line. Physical therapy can help patients with cerebral ataxia improve their coordination and find modified ways of performing certain activities, and some individuals may wish to use adaptive devices to increase mobility.

Eye Defects

Kallmann syndrome may result in certain eye defects, with one of the most common being nystagmus. Individuals with nystagmus display involuntary, repetitive eye movements that may alternate between rapid and slow speeds. The involuntary eye movements can involve vertical, horizontal, or circular eye motion. To check for nystagmus, patients will need to have an eye exam performed by an ophthalmologist.

The exam will likely include a test that records and analyzes the patient's eye movements, and some individuals might be asked to have a neurological exam with a physician. Glasses and contact lenses can improve symptoms for patients with nystagmus, and surgery to reposition certain eye muscles may be suggested. While these treatments do not cure congenital nystagmus, they will often slow down the involuntary eye movements and lead to clearer vision.