Kallmann's syndrome is a genetic disorder in which the body produces little or no gonadotropin-releasing hormone (GnRH), a hormone that plays a role in child sexual development. People with this disease often have impaired sense of smell.
GnRH is produced by the hypothalamus part of the brain. This hormone plays a role in stimulating the testes in men and the ovaries in women to carry out reproductive functions, such as producing sex hormones.
In children, the hormone GnRH plays an important role in the development of sexual characteristics at puberty. Low levels of the GnRH hormone can cause incomplete pubertal development or infertility (sterile).
Kallmann's syndrome is a genetic condition that is passed from parent to child. This disorder is more common in men than women. To overcome this, doctors can give testosterone replacement therapy for men or estrogen and progesterone for women.
Causes of Kallmann's Syndrome
Kallmann's syndrome occurs due to a change (mutation) in a gene that plays a role in the formation of the fetal brain. As a result of this genetic mutation, the nerves that produce GnRH and the olfactory (olfactory) nerves are impaired and do not function normally.
Kallmann's syndrome is generally passed from parent to child. Mothers can pass the gene to their daughters and sons. However, fathers generally can only pass it on to their daughters.
Apart from being inherited from parents, genetic mutations can also occur spontaneously in the womb. So, this condition can also occur in people who don't have a history of Kallmann's syndrome in their family.
Symptoms of Kallmann's Syndrome
Symptoms that usually appear from birth in sufferers of Kallmann's syndrome are very minimal ability to smell (hyposmia) or even unable to smell at all ( anosmia ). Even so, many people with this disease are not aware of these symptoms until undergoing examination.
Kallman's syndrome is more often detected when sufferers enter puberty. Some of the common symptoms that occur in teenage boys are:
- Delayed puberty
- Small penis
- Undescended testicle ( cryptorchidism )
- Erectile dysfunction
- Decreased muscle mass and strength
While the symptoms of Kallman's syndrome in young girls include:
- Delayed breast growth
- Pubic hair grows late
- Not having menstruation ( amenorrhea )
Meanwhile, in adult sufferers, symptoms that may appear are decreased sexual desire, dyspareunia in women, and impaired fertility (infertility).
In addition to the symptoms mentioned above, people with Kallmann's syndrome can also experience additional symptoms from infancy. Some of these additional symptoms are:
- Failure to form one of the kidneys
- Heart defects (congenital heart disease)
- Abnormalities in the bones of the fingers and toes
- Cleft lip or absence of the roof of the mouth
- Abnormal eye movements
- Hearing disorders
- Abnormal tooth growth
- Epilepsy
- Bimanual synkinesis (movement of one hand mimics the movement of the other hand), making it difficult for sufferers to do activities with different movements, such as playing music
People with Kallmann syndrome are also known to have poor bone health due to a lack of GnRH. This condition does not cause symptoms, but can be characterized by fractures resulting from minor injuries that normally would not cause fractures, or frequent fractures.
When to see a doctor
In some cases, the symptoms of Kallmann's syndrome can be found by a doctor through a physical examination when the sufferer is still a baby. However, symptoms generally cannot be seen immediately on physical examination after birth. In fact, symptoms often appear only during adolescence or adulthood.
In adults, it is advisable to see a doctor if you feel that you are experiencing the complaints above.
Meanwhile for parents, it is advisable to take their baby to the doctor if they have the following signs or symptoms:
- Deformity of the head or limbs
- Does not respond to sound
- Abnormal tooth shape
- Fatigue while feeding
- Fast heart rate most of the time
The symptom of Kallman's syndrome that needs to be watched out for is the delay in puberty, which is normally at the age of 8-14 years. This condition can be characterized by:
- Do not grow hair on the armpits and pubic
- The voice is not heavy in men
- Breasts do not grow in women
Diagnosis of Kallmann's Syndrome
The doctor will start the diagnosis by first conducting a question and answer session regarding the symptoms the patient is feeling, especially those related to delayed puberty and disturbances in the sense of smell.
Because Kallmann's syndrome is a hereditary genetic disorder, the doctor will also ask if the patient's family has a history of delayed puberty or fertility problems.
After that, the doctor will conduct a thorough examination, especially the signs of puberty in the patient. The doctor will also examine the condition of the mouth, teeth and eyes, to look for other physical abnormalities that may occur.
To confirm the diagnosis, the doctor will carry out laboratory tests and scans. Laboratory tests carried out include:
- Hormone tests, especially sex hormones, such as luteinizing hormone (LH) and follicle-stimulating hormone (FSH), which are reduced in numbers in people with Kallmann's syndrome
- Complete blood tests, including electrolyte tests and tests for vitamin D levels
- Pregnancy test, to rule out pregnancy in patients with secondary amenorrhea
- Examination of sperm in male patients, to determine the type of fertility therapy that can be given
As for the scanning test, the types of checks that can be carried out include:
- Magnetic resonance imaging (MRI) of the brain, to look for abnormalities in the hypothalamus and pituitary gland
- Echocardiography , to detect congenital heart disease
- Kidney ultrasound, to see possible kidney deformities
- Bone mineral densitometry (BMD), to detect bone density
- X-rays of the hands and wrists, to see bone maturity
Treatment of Kallmann's Syndrome
Kallmann's syndrome cannot be treated. However, the problems caused by Kallmann's syndrome can be overcome with several therapies or procedures. This treatment also aims to prevent complications.
The following are methods for treating Kallmann's syndrome according to the problems that occur:
1. Lack of sex hormones
Lack of sex hormones due to Kallmann's syndrome can be treated with hormone replacement therapy, the dose of which can vary for each patient. Hormone replacement therapy aims to help stimulate sexual development and maintain normal patient hormone levels.
In men, testosterone hormone replacement therapy is needed so that male secondary sex characteristics can grow and develop. Meanwhile, in women, estrogen and progesterone hormone replacement therapy is needed which works to stimulate the growth of female secondary sex characteristics.
2. Infertility
Adult Kallmann syndrome patients who want offspring need another hormone replacement therapy to stimulate the production of sperm or egg cells. Programs such as IVF ( in vitro fertilization ) can also be carried out to help achieve pregnancy.
3. The risk of osteoporosis or fractures
As a preventive measure, doctors will advise patients to take vitamin D and bisphosphate supplements. The goal is to strengthen bones and reduce the risk of developing osteoporosis due to GnRH deficiency.
Patients will also be advised to consume foods rich in vitamin D and calcium, especially if it is known that their bone density has decreased.
4. Other conditions
Other drugs can also be given according to the patient's condition, such as osteoporosis , epilepsy, or congenital heart disease . In addition, surgery can also be considered in patients with congenital heart disease or cleft lip.
Complications of Kallmann's Syndrome
Kallmann's syndrome causes sufferers to experience GnRH deficiency and impaired sense of smell. The following are some of the complications that can occur due to Kallmann's syndrome:
- It's hard to have offspring
- sexual dysfunction
- Osteoporosis
- Fracture
- Heart failure due to congenital heart disease
- Mental disorders, such as anxiety and depression, especially in adult patients with impaired sexual function
- Emotional or behavioral disturbances, such as low self-esteem and social withdrawal
- Increased risk of getting food poisoning from not being able to smell
Prevention of Kallmann's Syndrome
Kallmann's syndrome is a disorder caused by a genetic disorder. Therefore, this disease cannot be prevented. However, to reduce the risk of Kallman syndrome in the fetus, do a genetic consultation or examination before planning a pregnancy.
Doctor's examination before planning a pregnancy is very necessary if you or your partner has a history of Kallmann's syndrome or other genetic disorders in the family.
If your child has symptoms of Kallmann's syndrome, immediately check with the doctor to get early treatment. This can reduce the risk of complications due to Kallmann's syndrome.