KS stands for Kallmann syndrome. Kallmann syndrome is a congenital disease. This leads to an underfunction of the gonads and a loss of the sense of smell.
What is Kallmann Syndrome?
The leading symptom is an impaired sense of smell, known as hyposmia, or the complete loss of the sense of smell, known as anosmia.
Kallmann syndrome (KS) is also known as olfactogenital syndrome. Those affected suffer from this disease from a reduced or completely absent sense of smell. Furthermore, there is an underfunction of the gonads (hypogonadism) such as the male testicles or female ovaries. Kallmann syndrome is congenital and is one of the rare diseases. See AbbreviationFinder for abbreviations related to KS.
Men are affected significantly more often than women. The frequency in men is 1:10,000, while it is 1:50,000 in women. The disease was named after the German psychiatrist Franz Josef Kallmann (1897-1965). Kallmann syndrome was first mentioned in 1856 by the Spanish physician Aureliano Maestre de San Juan. Therefore, the disease is also called Sindrome de Maestre-Kallman-Morsier in Spanish-speaking regions .
Kallmann syndrome is triggered by genetic defects, more precisely by mutations that appear in a protein. This protein is extremely important for the development of the olfactory bulb (olfactory bulb) and various core areas of the hypothalamus. Cells that produce gonadoliberin (GnRH) enter the forebrain from the nasal placode during embryonic development. However, the exact path is still unclear.
The cell bodies are located in the hypothalamus in the supraoptic region, while the processes extend into the median eminence. From there they release releasing hormones in the direction of the portal circulation. The hormones ensure the release of the gonadotropins LH and FSH. In this way, the female menstrual cycle as well as sperm formation and testosterone production in men are controlled. In the case of Kallmann syndrome, however, aplasia (non-development) of the olfactory bulb occurs for genetic reasons.
So far, two mutations have been described that may be responsible for the development of Kallmann syndrome. These are the KAL mutation on the X chromosome and the FGFR1 gene on chromosome 8. These mutations result in a developmental disorder of the central nervous system (CNS). The immigration of nerve cells to the location that is physiologically determined for them is disrupted.
The disorder manifests itself through abnormalities in the hypothalamus. Due to the impairment of the hypothalamus, the hormone GnRH can only be released insufficiently, which has a negative effect on the release of FSH and LH as gonadotropins. Malformation of the olfactory bulb in turn results in the loss of the sense of smell.
Symptoms, Ailments & Signs
The symptoms that occur with Kallmann syndrome can be very different. The leading symptom is an impaired sense of smell, known as hyposmia, or the complete loss of the sense of smell, known as anosmia. The second key symptom is the delay or absence of puberty. The affected persons do not develop any secondary sexual characteristics. For example, male voices do not break. Beard growth and body hair are also affected.
In the female sex, on the other hand, there is no menstruation. In some cases, a cranio-fascial malformation also occurs. This shows disproportionality on the face and head. If the Kallmann syndrome is X-linked, which occurs in about one third of all patients, a kidney is often missing. If, on the other hand, there is a mutation in the FGFR1 gene, a malformation of the cleft lip and palate is also possible.
Diagnosis & course of disease
Diagnosing Kallmann syndrome is often difficult. In women in particular, the symptoms are often of an inconspicuous nature, which means that the doctor sometimes overlooks them during an examination. In addition, problems with the development of odors are usually not even noticed by the patients because they do not know any other smells. As a result, Kallmann syndrome is only detected in some patients at an advanced age.
An important diagnostic option is checking the testosterone or estrogen level in the body. The gonadotropin level is reflected in a prepubertal pattern. GnRH stimulation leads to an increased release of gonadotropins. The disturbance of the sense of smell can be determined by an olfactory test. Abnormalities in the central nervous system can be detected by imaging methods such as magnetic resonance imaging (MRI).
Both adolescent males and adult males suffering from Kallmann syndrome require lifelong testosterone replacement therapy. With appropriate treatment, normalization of puberty and sex life is possible.
In most cases, Kallmann syndrome leads to a restricted sense of smell. This can also be lost completely as the disease progresses. This causes significant difficulties for the patient in everyday life and the quality of life is significantly reduced and restricted by the Kallmann syndrome. Furthermore, in addition to the limitations of the sense of smell, there is usually a complete absence of puberty.
This absence has a very negative effect on the development of the child. For example, there is no menstruation and no sexual development. It is not uncommon for patients to also suffer from malformations in the head region. A kidney can also be missing. A cleft palate can also affect the patient’s aesthetics, leading to significant inferiority complexes or severely reduced self-esteem.
However, the symptoms of Kallmann syndrome do not have to appear immediately after birth. In many cases, patients do not suffer from the symptoms of this disease until they are adults. Treatment of Kallmann’s syndrome can be carried out with the help of drugs and hormones. There are no complications. However, psychological treatment is usually also necessary to prevent complications in adulthood.
When should you go to the doctor?
If symptoms such as an impaired sense of smell or the absence of puberty are noticed, Kallmann syndrome may be the cause. A doctor should be consulted if symptoms persist longer than usual or may even become permanent. If there are other complaints, the family doctor must be consulted immediately. Girls and women who are not menstruating should speak to their gynecologist.
Men who suffer from genital malformations are best advised to consult a urologist. Kallmann syndrome can manifest itself through a wide variety of symptoms, which is why a doctor should be consulted as soon as the first signs of illness appear. Persons suffering from a hereditary disease should inform the responsible doctor. The best thing to do with children is to go to the pediatrician. In many cases, Kallmann syndrome is diagnosed and treated immediately after birth. Suitable contacts are speech therapists, orthopedists, gynecologists, urologistsand specialists in hereditary diseases. In case of serious complications, the child should be taken to a clinic immediately.
Treatment & Therapy
The therapy of Kallmann’s syndrome consists primarily of the administration of hormones such as testosterone or progesterone/estrogen. While men receive testosterone, women receive estrogen or progesterone. The hormones can be administered through the administration of gels, injections or special patches. Substitution treatment allows normal puberty to develop, allowing patients to lead relatively normal lives.
In some cases, children can even be conceived. If the patient wishes to have children, replacement therapy with gonadotropins takes place. In most of those affected, the formation of sperm or oogenesis (formation of egg cells) can take place in this way. In men in particular, however, there is a restriction on fertility.
It is also important to counteract bone loss (osteoporosis), because Kallmann’s syndrome also results in a reduction in bone density. The lack of the sense of smell, however, cannot be treated. Psychotherapy and human genetic counseling are also considered important therapy factors. The presence of anemia, which often occurs with this disease, must also be treated.
Outlook & Forecast
If hormone therapy is initiated in the affected person in good time, normal puberty development occurs. Men are guaranteed a normal sex life in adulthood through the lifelong administration of testosterone. After adequate and timely hormone administration of estrogen and progesterone, there are no sexual functional restrictions in women either. The hormones are usually injected via gels or patches. Hormone treatment during puberty achieves feminization or masculinization in all patients.
These hormone therapies can sometimes also have psychological consequences, such as listlessness, mood swings or a change in libido. Therefore, in addition to hormone therapy, psychological care for the patient should also be considered under certain circumstances.
If you wish to have children, the hormone administration of gonadotropin or gonadoliberin can stimulate the maturation of the sperm cells or egg cells. On average, it can take between 18 and 24 months for seed production to fully recover. Normal fertility is achieved in around 80% of these cases.
An empirical study reported on five patients with Kallmann syndrome who had spontaneous recovery of gonadal function after several years of hormone replacement therapy.
Since Kallmann syndrome is congenital and caused by a genetic defect, it cannot be effectively prevented.
Since Kallmann syndrome is a hereditary and therefore congenital disease, it cannot be completely cured or treated. A doctor should be contacted as soon as the first symptoms and signs of the syndrome appear, so that there are no further complications or a further deterioration of the symptoms. Early detection of the symptoms can lead to a positive course of the disease, whereby the measures and the options for aftercare are severely limited in most cases.
Kallmann syndrome is usually treated by taking various medications. Affected people should pay attention to the correct dosage and also to taking the medication regularly in order to permanently relieve the symptoms. Especially with children, parents must ensure that they are taken regularly.
Not all symptoms of Kallmann syndrome can be completely alleviated, so that many patients are dependent on the help and support of their own families in their everyday lives. In most cases, the life expectancy of those affected is not reduced by this disease. Further follow-up measures are not available to patients with Kallmann syndrome.
You can do that yourself
People suffering from Kallmann syndrome usually have various symptoms and therefore require comprehensive medical treatment. Since the individual symptoms often remain for a lifetime and this can represent a significant burden on the mental state of those affected, therapeutic advice is usually indicated.
In conversation with a therapist, the person concerned learns to deal with the illness and the problems that it brings with it. In most cases, psychological counseling can also be used to establish contact with other affected people. This makes it easier to deal with the Kallmann syndrome and offers the sufferer the opportunity to learn new strategies and tips for dealing with everyday problems.
In addition to these therapeutic measures, those affected can also support the treatment of the symptoms. The doctor will first recommend that the patient change their eating habits. Hormone treatment can be supported by a balanced diet. Regular exercise, getting enough sleep, and avoiding stress all contribute to this treatment. In addition, medical supervision is always indicated, because this is the only way to avoid complications. If unusual symptoms appear or serious mental problems occur, a visit to the responsible doctor is indicated.