Puberty or puberty is a transition period that will normally be experienced by every child who will grow up. This period is important because there are many changes in a human being, both physical and psychological. However, it turns out that not all children will experience puberty due to a genetic disorder, Kallmann's syndrome. Here's the ins and outs of this rare genetic condition.
What is Kallmann's syndrome?
The collection of abnormalities 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 reproductive hormone disorders accompanied by smell (smell). 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 child affected. In Kallmann's syndrome, there is a disruption of hormone production in certain parts of the brain where the hormone is useful for stimulating the production of sex hormones from the testes (testosterone) or ovaries (estrogen and progesterone).
As a result, testosterone levels in men and estrogen and progesterone in women experience a decrease in the amount in the body. There is a failure of secondary sex growth in each sex, including impaired sperm production function in men and disorders of breast growth and menstruation in women. Furthermore, this will result in the occurrence of infertility or infertility in the child when growing up.
Anosmia is the inability of the nervous nerves to capture certain odor stimuli, so that one cannot distinguish different types of odors. In Kallmann's syndrome, there is a disruption 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 pengidu disorders.
In addition to the two main symptoms above, sometimes other disorders can be found in patients. These disorders include incomplete kidney formation, cleft lip, hearing loss, and tooth abnormalities.
How do you deal with this disease?
Because of 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 age of a person when diagnosed, the amount of hormone replacement is adjusted to normal sex hormone levels at that age range.
This treatment is done in the long term to create a balance of sex hormones in the child's body. Other therapies are tailored to the symptoms that appear and are felt by the patient.
What about your life expectancy?
Patients with Kallmann syndrome have a high life expectancy, on average patients can survive to old age. However, patients usually rely on long-term hormonal treatment at a cost that is large enough to be able to live like people in general.
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