Kallmann Syndrome: A Rare Disease You Should Know About

December 7, 2018

Kallmann Syndrome is a rare disease that affects only a small percentage of people around the world. Not many people are familiar with the disease, and it can be quite difficult to distinguish and diagnose one with it. That’s why it’s important to know what this disease is all about to ensure that you or anyone you know aren’t suffering from it.

However, what exactly do you need to know about Kallmann Syndrome and are there any treatments for it? I did the research so read on as I show you everything you need to know about this rare disease.

What Is Kallmann Syndrome?

Kallmann Syndrome is a genetic disorder, which prevents the patient from the beginning or completing puberty. It is also known as the idiopathic hypogonadotropic hypogonadism with ansomia, which is abnormally low production of hormones involved as one develops.

The main signs of this disease involve the delay or absence of puberty signs, as well as the impaired or absent sense of smell. It can start to develop at birth, or become onset in teenagers or adults.

The disease occurs in more males than females, with a prevalence of 1 in 120,000 females and 1 in 30,000 males. There are various treatments for the disease and diagnosis would occur during the teenage years, when puberty should have begun. Lifelong treatment is required for it, with various therapies for replacing the missing sex hormones.

What Are The Signs and Symptoms?

Unfortunately, it’s a bit difficult to diagnose and distinguish if someone has Kallmann Syndrome. But if puberty hasn’t begun by the age of 14 or 15 (for girls and boys, respectively) or older, then it’s best to see a reproductive endocrinologist for further advice.

The main symptoms are lack of sense of smell, which cannot be treated. For boys, they may have a small penis and first experience a delay in pubic hair and breast development.

There are different signs and symptoms of Kallmann Syndrome, which can be split into two categories, which are:

Reproductive Symptoms

  • Hasn’t started or completed puberty fully
  • Lack of testicle development (males)
  • Amenorrhea (no menstruation)
  • Poorly defined sexual characteristics
  • Micropenis (but only 5-10% cases)
  • Undescended testicles at birth
  • Infertility (if not treated)
  • Hypogonadism due to low hormone levels

Non-Reproductive Symptoms

  • Lack of sense of smell or reduced sense of smell, which is the major symptom of Kallmann Syndrome
  • Midline craniofacial defects like harelip or cleft palate
  • Hearing impairment
  • Some skeletal defects or missing teeth
  • Poor coordination or balance
  • Eye defects or color-blindness

The severity of the symptoms varies from case to case basis, as even family members don’t show a similar range or symptom severity.

Usually, Kallmann’s Syndrome is present upon birth, though there are vault versions as well.

There are some side effects to the disease, including osteoporosis due to lack of testosterone or estrogen, which leads to weakened and fragile bones.

What Causes The Disease?

Kallmann Syndrome is an inherited condition, which is passed on from the parents to children. There are no other causes besides genetics or it being hereditary. It’s usually caused by mutations in some genes, usually due to marriages within close relatives.

Besides that, there are no other known reasons for it.

If you or a close family member has had a history of Kallmann Syndrome, then you will need to observe as your child grows older, particularly during the time of puberty before he or she reaches 15 years old.

If your child hasn’t begun showing signs of puberty and may have experiences reduced smell or taste, then it’s time to take him to his doctor or hormone specialist.

Kallmann Syndrome, though difficult to distinguish, is diagnosed after a few tests that show why the growth spurt during puberty has been late. Measurement of sex hormones and other tests are also done, and if sex hormones still remain low, they will diagnose your child with Kallmann disease and explain the next steps to take.

Is There Any Treatment For It?

Fortunately, treatment for Kallmann Syndrome is effective and can be done.

Hormone replacement is the most effective and common treatment, which is done for either male or females. Boys will be given testosterone for growth and development, while girls require estrogen and progesterone. To avoid infertility, both male and female will require other hormones for their bodies to create sperm and eggs.

This is a long-term treatment, with the type of hormone and how it’s given depending on what will work best for the patient and depending on their age. Sometimes, the hormones are taken in tablet form, while others via injection.

Besides puberty and development, the hormones are needed for bone strength, reducing the risk of weak bones as they age. Unfortunately, there isn’t a treatment for their lack of smell.

Besides the hormone replacement, pubertal feminization or virilization is given when required. Furthermore, genetic counseling is also given which can help reduce the chance of future children inheriting the disease.

As the treatment continues, they will require regular appointments with their hormone specialists, continuing with the hormone replacements even when they become adults. If ever other parts of the body become affected because of the disease, then you will need other medical professionals to take care of it.

There is a reversal of symptoms, which has happened in between 10-22% of diagnosed cases. However, reversal isn’t always permanent and more research needs to be done on it.

Wrapping It Up

While this disease can sound bit daunting, there are treatments your child can follow is they are diagnosed with Kallmann Syndrome. The first step is being more informed with this disease so you are able to properly address it and ensure that your little one grows and develops well.

Hopefully, this article on Kallmann Syndrome gave you an idea of what this disease is and how to help your child. Learn more about it at Xpertdox and find Doctors now!

If you had any questions or want to share your experiences with Kallmann Syndrome and how to deal with it, then comment below. Your thoughts are much appreciated.

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