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kallmann syndrome diagnosis, symptoms, Treatment, Causes

Syndrome types

kallmann syndrome diagnosis, symptoms, Treatment, Causes: An inherited disease that is characterized by gonadotropic hypogonadism, with a concomitant disturbance of smell, up to anosmia, is called Kalman syndrome. Diagnosis of the syndrome may be difficult, since before adolescence a child’s symptoms may not be pronounced or absent. What is it and how to treat Kalman syndrome?


  • Clinical picture
  • Causes
  • Symptoms
  • kallmann syndrome diagnosis
  • Treatment
  • Prevention

Clinical picture

Kalman syndrome is a hereditary pathology, as a result of which gonadotropin-releasing hormone formation is impaired. It stimulates the production of follicle-stimulating (FSH) and luteinizing (LTG) hormones. They are responsible for the formation of secondary sexual characteristics and are necessary for normal development and the ability to reproduce genitals.

It is under their influence that boys and girls in adolescence begin restructuring of the body, develop female or male hair growth, increase and acquire a normal size for an adult uterus, penis.

The lack of these hormones leads to a delay in puberty. But gonadotropic hypogonadism can also be observed in other diseases. Kalman syndrome is another characteristic feature of it – a violation of smell (hyposmia, anosmia). Various forms of this hereditary disease may be accompanied by other developmental abnormalities.

Causes of Kalman syndrome

The causes of Kalman syndrome are still being studied, but several genes have been discovered that cause it. These genes are transmitted in an autosomal dominant manner, linked to the X chromosome by a recessive and autosomal recessive manner. The disease is often family-related and Kalman syndrome is often found in children of the same family. Moreover, the severity and associated symptoms may be different.

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The cause of the abnormality is a violation of the translocation of neurons that produce gonadotropin in the period of early fetal organogenesis. In the first trimester of pregnancy, they appear in the olfactory region and then migrate through the frontal lobe to the preoptic zone of the hypothalamus. Mutation of genes can cause both disturbed migration and complete destruction of these cells. Along with such changes, the pathology of the development of the olfactory nerve is revealed, which in patients is expressed by hyposmia or anosmia.

It is also possible the development of other pathological conditions associated with the anterior lobe of the brain. For example, in some cases, Kalman syndrome is accompanied by a pathology of mental development, defects of the facial skeleton (cleft lip, wolf mouth). Violations can affect the optic nerve, color perception changes. With the defeat of the auditory nerve, there is a deaf-mutism. Syndrome may also be accompanied by pathologies of internal organs (kidneys, ureters, heart), cryptorchidism, micropenis.

kallmann syndrome symptoms

Symptoms of the disease varies depending on the presence of congenital abnormalities. But if they are not found at birth, the child can develop quite normally up to 10-11 years. Then, when secondary sexual symptoms begin to appear normally, patients with Kalman syndrome may have either delayed appearance or absence, since in some cases there is only a decrease in the secretion of gonadotropin-releasing hormone.

The growth of a child does not suffer, and even vice versa, due to the late overgrowth of growth zones, patients who have found Kalman syndrome can grow longer, up to 20 years. But their appearance develops on the eunuchoid type.

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Men often have gynecomastia, cryptorchidism. The penis and testicles remain small, sometimes development is delayed, and with age, sluggish spermatogenesis can be found in the testicles. In women, menstruation does not occur (amenorrhea). During examination, infantilism, complete atrophy or hypoplasia of the uterus, and insufficient development of the mammary glands are determined.

Symptoms of Kalman syndrome may also be associated with abnormal development of other organs, so the picture of the disease is different in each individual case. Complications of Kalman syndrome are associated with the underdevelopment of the genitals, which leads to impaired reproductive function, infertility in both women and men.

Kallmann Syndrome Diagnosis

Since the main symptoms are violations of gonadotropin-releasing hormone secretion and smell, the Kalman syndrome is diagnosed with the purpose of detecting these disorders in the clinical picture of gonadotropic hypogonadism.

To determine the level of hormones do:

The analysis on the blood content of luteinizing, follicle-stimulating hormones, estrogen and testosterone.
Conduct samples with the introduction of GnRH and clomiphene. As a result of such a sample, the concentration of hormones should increase, but in patients with Kalman syndrome, it remains at the same level, or there are slight fluctuations. This allows you to evaluate the function of the hypothalamus.

To determine olfactory impairments, screening tests are performed and a history is carefully studied.

Developmental disorders of the genital organs and the hypothalamus can also be detected by:

ultrasound examination;
computed or magnetic resonance imaging.


Treatment of Kalman syndrome should begin as early as possible. It is carried out with the purpose of forming secondary sexual characteristics, breasts in women, genitals in men and the development of reproductive function.

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During treatment, after a thorough study of the level of hormones and carrying out the appropriate tests, hormone replacement therapy is prescribed. While taking hormonal substances, over time, you can increase the penis and restore testicular function in men, uterus growth and the appearance of menstruation in women.

Cases have been described in which patients with Kalman syndrome, during the treatment, became pregnant and nursed a child normally, although for this they had to use hormonal drugs throughout pregnancy under the strict supervision of a physician.


Prevention of Kalman syndrome is the early diagnosis of this disease and its treatment, in the form of the appointment of hormone replacement therapy. Considering the hereditary nature of the disease, individuals with families in whom patients with Kalman syndrome were observed are referred to medical and genetic counseling to determine the risk of developing a disease in a child.

During pregnancy, women at risk of detecting this developmental pathology in a baby are carefully monitored and examined. If you suspect a violation of organogenesis by the type of Kalman syndrome, they are offered to terminate the pregnancy.

Newborns with developmental abnormalities that are not uncommon in such patients are also examined and, if they are found to be pathological, they are registered with the endocrinologist.

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