Kallmann syndrome is a genetic disorder in which the body cannot produce or produces only a small amount gonadotropin-releasing hormone (GnRH), which is a hormone that plays a role in the sexual development of children. Patients 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 (barren).
Kallmann syndrome is a genetic condition that is passed from parents to children. This disorder is more common in men than women. To overcome this, doctors can run testosterone replacement therapy in men, or estrogen and progesterone in women.
Causes of Kallman Syndrome
Kallmann syndrome occurs due to changes (mutations) of genes that play a role in the formation of the fetal brain. As a result of these genetic mutations, the nerves that produce GnRH and the olfactory (olfactory) nerves are impaired and do not function normally.
Kallmann syndrome is generally passed from parent to child. Mothers can pass these genes on to their daughters and sons. However, fathers in general can only pass it on to their daughters.
In addition to being inherited from parents, genetic mutations can also occur spontaneously in the womb. So, this condition can also occur in people who do not have a history of Kallmann syndrome in their family.
Symptoms of Kallmann Sindrom Syndrome
Symptoms that usually appear from birth in people with Kallmann syndrome are very minimal sense of smell (hyposmia) or no smell at all (anosmia). Even so, many people with this disease are not aware of these symptoms until they undergo an examination.
Kallman syndrome is more often detected when the sufferer enters puberty. Some of the common symptoms that arise in teenage boys are:
- Puberty delay
- Small penis
- Undescended testicles (cryptorchismus)
- Erectile dysfunction
- Decreased muscle mass and strength
Meanwhile, the symptoms of Kallman syndrome in adolescent girls include:
- Late breast growth
- Pubic hair grows late
- Not having menstruation (amenorrhea)
Meanwhile, in adult patients, symptoms that can appear are decreased sexual desire, dyspareunia (in women), and impaired fertility (infertility).
In addition to the symptoms mentioned above, people with Kallmann syndrome can also experience additional symptoms from infancy. Some of these additional symptoms are:
- No kidney formation
- Heart defects (congenital heart disease)
- Abnormalities in the bones of the fingers and toes
- Cleft lip or palate is not formed
- Abnormal eye movements
- Hearing disorders
- Abnormal tooth growth
- Epilepsy
- Bimanual synkinesis (movement of one hand mimics the movement of another), making it difficult for the sufferer to perform activities with different movements, such as playing music
Patients with Kallmann syndrome are also known to have poor bone health due to a lack of GnRH. This condition causes no symptoms, but can be characterized by fractures from minor injuries that usually don't cause fractures, or frequent fractures.
When to go to the doctor
In some cases, the symptoms of Kallmann syndrome can be found by a doctor through a physical examination when the sufferer is still a baby. However, symptoms generally cannot be immediately seen on physical examination after birth. In fact, symptoms often appear only in adolescence or adulthood.
In adults, it is advisable to consult a doctor if you feel you are experiencing the above complaints.
Meanwhile, for parents, it is advisable to take their baby to the doctor if there are the following signs or symptoms:
- Deformities of the head or limbs
- Not responding to sound
- Abnormal tooth shape
- Tiredness while breastfeeding
- Fast heart rate most of the time
The symptom of Kallman syndrome to watch out for is delayed puberty, which is normally between the ages of 8–14 years. This condition can be characterized by:
- Does not grow hair on the armpits and pubic
- The voice is not hoarse in men
- Breasts don't grow in girls
Diagnosis of Kallmann . Syndrome
The doctor will start the diagnosis by first conducting a question and answer session regarding the patient's symptoms, especially those related to delayed puberty and disturbances in the sense of smell.
Because Kallmann 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 perform laboratory tests and scans. Laboratory tests carried out include:
- Hormone tests, especially sex hormones, such as luteinizing hormone (LH) and follicle-stimulating hormone (FSH), the amount of which is reduced in patients with Kallmann . syndrome
- Complete blood tests, including electrolyte tests and vitamin D level tests
- Pregnancy test, to rule out pregnancy in a patient with secondary amenorrhea
- Sperm examination in male patients, to determine the type of fertility therapy that can be given
As for the scanning test, the types of examinations that can be performed 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 the possibility of kidney deformity
- Bone mineral densitometry (BMD), to detect bone density
- X-ray of the hand and wrist, to see bone maturity
Kallmann Sindrom Syndrome Treatment
Kallmann syndrome cannot be treated. However, problems that arise from Kallmann syndrome can be overcome with several therapies or measures. This treatment also aims to prevent complications.
The following is a method of treating Kallmann syndrome according to the problem that occurs:
1. Lack of sex hormones
Lack of sex hormones due to Kallmann 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 the patient's hormone levels to remain normal.
In men, testosterone 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 desire offspring may require other hormone replacement therapy to stimulate the production of sperm or egg cells. Programs such as IVF (IVF) can also be done to help realize a pregnancy.
3. Risk of osteoporosis or fractures
As a preventive measure, the doctor will advise the patient to take vitamin D and bisphosphate supplements. The goal is to strengthen bones and reduce the risk of osteoporosis due to GnRH deficiency.
Patients will also be advised to eat foods rich in vitamin D and calcium, especially if it is known that their bone density is decreasing.
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 Kallman Syndrome
Kallmann syndrome causes sufferers to experience GnRH deficiency and impaired sense of smell. The following are some of the complications that can occur as a result of Kallmann syndrome:
- Difficult to have offspring
- Sexual dysfunction
- Osteoporosis
- Fracture
- Heart failure due to congenital heart disease
- Mental disorders, in the form of anxiety and depression, especially in adult patients with impaired sexual function
- Emotional or behavioral disorders, such as low self-esteem and withdrawal from social life
- Increased risk of food poisoning due to anosmia
Kallmann Sindrom Syndrome Prevention
Kallmann syndrome is a disorder caused by genetic disorders. Therefore, this disease cannot be prevented. However, to reduce the risk of Kallman syndrome in the fetus, do a consultation or genetic examination first before planning a pregnancy.
A doctor's check before planning a pregnancy is necessary if you or your partner have a family history of Kallmann syndrome or other genetic disorders.
If your child has symptoms of Kallmann syndrome, immediately go to the doctor to get treatment early. This can reduce the risk of complications from Kallmann syndrome.
