Contents:
- Medical Video: Twenty-Seven Year Old Man Hasn't Reached Puberty -- The Doctors
- What is Kallmann's syndrome?
- Symptoms and signs of Kallmann's syndrome
- No or late puberty
- Anosmia
- Other disorders
- How to deal with this disease?
- What about his life expectancy?
Medical Video: Twenty-Seven Year Old Man Hasn't Reached Puberty -- The Doctors
Puberty or puberty is a transition 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 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?
A 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 a smell of 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
Anosmia is the inability of the smell of nerves to capture certain odor stimuli, so that one cannot distinguish between different types of odors. In Kallmann's syndrome, there is a disruption in the area of the brain that functions to produce sex hormones while receiving and processing various types of odors. As a result, sufferers also experience pengidu disorders.
Other 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 to deal with this disease?
Because of the disruption of hormone levels 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 carried out in the long term 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?
Patients with Kallmann syndrome have a high life expectancy, the average patient 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.
