Kallmann Syndrome, What is it? What Are The Symptoms And How to Treat it

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Kallmann Syndrome, What is it? What Are The Symptoms And How to Treat it – Puber puberty or is the transitional period which normally will be experienced by every child who will grow up. This period is important because of the many changes in a human, either physical or psychological. However, it turns out that not all children will experience puberty due to severe genetic disorder Kallmann syndrome IE. The following particulars concerning the genetic condition is rare.

Kallmann syndrome what is it?

A collection of abnormality in this disease was first put forth by a genetic expert named Franz Josef Kallmann in 1944. Kallmann syndrome is a disease due to genetic mutations that involve reproductive hormone disorders accompanied by disturbances of Olfaction (smell). This disease is estimated to occur in one in between 50,000 to 100,000 people.

Kallmann syndrome symptoms and signs

No or late puberty

Because these abnormalities can be about men and women, then its clinical symptoms depending on the sex of the affected children. In Kallmann syndrome, hormone production disruptions occur in certain parts of the brain where the useful hormones to stimulate production of the sex hormones of testes (testosterone) or ovaries (estrogen and progesterone).

As a result, testosterone levels in men and estrogen and progesterone in women experiencing a decrease in the amount in the body. Secondary sex growth failure occurred in each gender, among other malfunctioning of sperm production in men as well as disorders of the breast growth and menstruation in women. Furthermore, this would result in the incidence of infertility or infertility on the child when growing up.

Anosmia

Anosmia is the inability for olfactory nerves to capture a particular odor stimuli, so one can not distinguish the various smells. In Kallmann syndrome, a brain disorder occurs in areas that serve to produce sex hormones at the same time to receive and manipulate various types of odors. As a result, sufferers also experience olfactory interference.

Other distractions

In addition to the two main symptoms above, can sometimes be found some other disorders in people with. The disorder, among others, include the establishment of a kidney is not perfect, cleft lip, hearing loss, as well as the dental abnormality.

How do I deal with this disease?

Because the amount of hormone disruption in Kallmann syndrome, then the main disease therapy is hormone replacement therapy (replacing hormone therapy). Depending on the person’s age when undiagnosed, hence the number of customized hormone replacement with normal sex hormone levels in the age range.

This treatment is done in the long term in order to created a balance of sex hormone levels in the body. Other therapies are tailored to the symptoms appeared and felt by the patient.

What about the expectations of his life?

Kallmann Syndrome sufferers have a great life expectancy, average patients could survive to a ripe old age. It’s just that, usually the patient depends on the long-term hormonal treatment and costs that are large enough to be able to live like the people in General.

 

Source:

  • Ha JH, Lee S, Kim Y, Moon JI, Seo J, Jang JH, et. al. Kallmann syndrome with a Tyr113His PROKR2 mutation. Medicine. 2017;96(35):e7974.
  • Melmed, Shlomo. Fertility and fragrance: another cause of Kallmann syndrome. J Clin Invest. 2015;125(6):2275-2278.
  • Layman, Lawrence C. Clinical Genetic Testing for Kallmann Syndrome. J Clin Endocrinol Metab. 2013;98(5):1860-1862.
  • Smith, Neil dan Quinton, Richard. A Patient’s Journey – Kallmann syndrome. BMJ. 2012;345:e6971.
  • https://hellosehat.com/hidup-sehat/fakta-unik/sindrom-kallmann-adalah/

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