Table of contents:
- What is Kallmann's syndrome?
- Symptoms and signs of Kallmann's syndrome
- No or late puberty
- Anosmia
- Another annoyance
- How to deal with this disease?
- What about his life expectancy?
Puberty or puberty is a transitional period that normally will be experienced by every child who will grow up. This period is important because there are many changes in a human being, both physically and psychologically. However, it turns out that not all children will experience puberty due to a genetic disorder, namely Kallmann's syndrome. Here are the details about this rare genetic condition.
What is Kallmann's syndrome?
A collection of disorders in this disease was first put forward by a geneticist named Franz Josef Kallmann in 1944. Kallmann's syndrome is a disease caused by a genetic mutation that involves disorders of reproductive hormones accompanied by odor disorders. It is estimated that this disease occurs in one in 50,000 to 100,000 people.
Symptoms and signs of Kallmann's syndrome
No or late puberty
Because this disorder can affect both men and women, the clinical symptoms depend on the sex of the affected child. In Kallmann's syndrome, there is a disruption in hormone production in certain parts of the brain where the hormone is used to stimulate the production of sex hormones from the testes (testosterone) or the ovaries (estrogen and progesterone).
As a result, the levels of testosterone in men and estrogen and progesterone in women experience a decrease in the amount in the body. Secondary sex growth failure occurs in each sex, including impaired sperm production function in men and disorders of breast growth and menstruation in women. Furthermore, this will result in infertility or infertility when the child grows up.
Anosmia
Anosmia is the inability of the smell nerves to pick up on certain odor stimuli, so that a person cannot distinguish between different odors. In Kallmann's syndrome, there is a disturbance in the area of the brain that functions to produce sex hormones as well as to receive and process various types of odors. As a result, sufferers also experience smelling disorders.
Another annoyance
Apart from the two main symptoms above, sometimes you can find several other disorders in the sufferer. These disorders include, among others, imperfect kidney formation, cleft lip, hearing loss, and dental abnormalities.
How to deal with this disease?
Due to the disruption in the amount of hormones in Kallmann's syndrome, the main therapy for this disease is hormone replacement therapy (hormone replacing therapy). Depending on the person's age at diagnosis, the amount of hormone replacement is adjusted to the normal sex hormone levels in that age range.
This treatment is carried out in the long term in order to create a balance of sex hormone levels in the child's body. Other therapies are tailored to the symptoms that appear and are felt by the patient.
What about his life expectancy?
Kallmann syndrome sufferers have a large life expectancy, on average the patient can survive to old age. It's just that, usually patients rely on long-term hormonal treatment at a considerable expense in order to live like ordinary people.
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