Kallmann's Syndrome

Kallmann's syndrome is a genetic disorder characterized by the fact that the body can or can produce little or no gonadotropin-releasing hormone (GnRH), a type of hypogonadism that consists of producing little or no hormones at all. sexual development.
The hormone that releases gonadotropins is produced by a part of the brain called the hypothalamus. The role of the GnRH hormone in the body includes stimulating the testes in men and ovaries in women for secondary sexual growth. With a minimal GnRH hormone condition, sufferers may show incomplete puberty development, as well as infertility or infertility.

Kallmann's Syndrome
Kallmann's syndrome is a disease that is transmitted from parent to child. This disorder is more common in men than in women and can be treated with hormone replacement therapy.
Symptoms of Kallmann's syndrome

The most common birth symptoms in people with Kallmann's syndrome are that the smell is minimal (hyposmia) or even non-existent (anosmia). Many sufferers only find out about this disease after examination.

Other symptoms that may occur in men include

  • Have a small penis.
  • Testicles that are not damaged (cryptorchidism).
  • Puberty is too late.
  • Baldness.
  • Reduced muscle mass
  • Muscle becomes not strong.

Although symptoms in women include:

  • Delay in breast growth.
  • Pubic hair has late growth.
  • Do not have menstruation.

If Kallmann's syndrome is not treated, people with men and women may have fertility problems (infertility).

In addition to the symptoms mentioned above, people with this disorder may also have additional symptoms, namely:

  • There is no kidney training.
  • Cleft palate.
  • Abnormal eye movements.
  • Hearing disorders
  • Tooth growth is not normal.
  • Obesity.
  • Bimanual Synkinesis (one-handed movements that mimic the movements of the other hand), making it difficult for people to perform tasks with different movements, such as playing music.

Causes of Kallmann's syndrome


Genetic abnormalities of Kallmann's syndrome are related to mutations in more than 20 genes. Several gene mutations that play a role in the formation of this syndrome, including ANOS1, CHD7, FGF8, PROK2 or PROKR2. These genes play a role in the process of developing certain areas of the brain during the uterus. Although the function of each of these genes cannot be determined, these genes are related to the process of formation and movement of nerve cells (neurons) that produce gonadotropin-releasing hormone (GnRH). Placement of nerve cells can interfere with GnRH production.

Besides being inherited from their parents, genetic mutations can also occur spontaneously in patients without a family history of this disorder.
Diagnosis of Kallmann's syndrome

After seeing the symptoms and conducting a physical examination and further examination on the patient, the doctor can make a diagnosis. Complementary examination can be in the form of laboratory tests and digitization of body parts. Laboratory tests include electrolytic, ferritic and hormone tests such as testosterone, estradiol, luteinizing hormone (LH), follicle stimulating hormone (FSH), thyroid stimulating hormone (TSH), thyroxine, cortisol and prolactin.

In addition, pregnancy tests must also be performed on patients with secondary amenorrhea to rule out pregnancy. While sperm testing is performed on patients with Kallmann's syndrome, men determine which infertility treatments can be given.

With regard to scanning, checks that can be carried out include:

  • Brain MRI.
  • Echocardiography, to detect congenital heart disease.
  • Renal ultrasound, to look at the possibility of kidney that is not formed.
  • Bone Mineral Densitometry (BMD) to detect bone density.
  • Hand and wrist radiographs to see bone maturity.
Treatment of Kallmann's syndrome

Kallmann's syndrome treatment can be done on an outpatient basis. Treatment in the form of hormone replacement therapy. In boys, hormone replacement therapy with testosterone is needed to develop and develop during puberty. Meanwhile, women need hormone replacement therapy for estrogen and progesterone. When adults suffer and want offspring, other hormone replacement treatments are also needed to make sperm and eggs.

The administration of this therapy is determined according to the age and condition of each patient. In addition to sexual development hormones, this therapy can also be a basis for strengthening bones and preventing the risk of osteoporosis. Hormone replacement therapy can be given in the form of tablets taken orally or injection.

In addition to hormone replacement therapy, counseling and psychological behavior can also help in helping people with Kallmann's syndrome. Meanwhile, drug administration can be given depending on the condition, such as people with Kallmann's syndrome with osteoporosis, neurological disorders or congenital heart disease. Surgical intervention can also be done to improve the condition of people with Kallmann's syndrome with congenital heart disease or cleft palate.

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