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What is the prevalence of Kallmann Syndrome?

How many people does Kallmann Syndrome affect? Does it have the same prevalence in men and women? And in the different countries?

Prevalence of Kallmann Syndrome

Kallmann Syndrome is a rare genetic disorder characterized by the combination of hypogonadotropic hypogonadism (delayed or absent puberty) and anosmia (inability to smell). It affects approximately 1 in 10,000 to 1 in 50,000 individuals worldwide, with males being more commonly affected than females. The syndrome can be inherited in an autosomal dominant or autosomal recessive manner, or it can occur sporadically. Early diagnosis and treatment are crucial for managing the condition and addressing associated reproductive and olfactory issues.



Kallmann Syndrome is a rare genetic disorder characterized by the combination of delayed or absent puberty and an impaired sense of smell. It primarily affects males, with a prevalence estimated to be around 1 in 10,000 to 1 in 50,000 males. However, it can also occur in females, although less frequently. The exact prevalence of Kallmann Syndrome is challenging to determine due to underdiagnosis and the wide range of symptoms and severity among affected individuals.

The syndrome is caused by mutations in several genes involved in the development and migration of neurons that produce hormones responsible for puberty and the sense of smell. These genetic mutations disrupt the normal development of the hypothalamus and olfactory system.

Early diagnosis and treatment are crucial for individuals with Kallmann Syndrome to address the delayed puberty and associated fertility issues. Hormone replacement therapy can help induce puberty and promote sexual development. Additionally, assisted reproductive technologies may be necessary for individuals with fertility problems.

While Kallmann Syndrome is a rare condition, raising awareness among healthcare professionals and the general public is essential to ensure timely diagnosis and appropriate management for affected individuals.
Diseasemaps
4 answers
The condition has a low prevalence, estimated as being between 1 in 4,000 and 1 in 10,000 for male HH cases overall and 1 in 50,000 for Kallmann syndrome. It is three to five times more common in males than females. Though whether this is a true sex imbalance or a reflection on how difficult KS / HH is to diagnose correctly, especially in females, has yet to be fully established. Finnish population at 1 in 48,000, with a sex distinction of 1 in 30,000 for males and 1 in 125,000 for females.

Posted Jun 11, 2017 by Remo 2050
Hypogonadotropic hypogonadism is estimated to affect between 1 in 4,000 and 1 in 10,000 males, of which about a half are Kallmann syndrome cases.

A recent study in Finland put the incidence at 1 in 48,000 people overall, with 1 in 30,000 for males and 1 in 125,000 for females.

The true figure is unknown but is probably under diagnosed in females.

Posted Nov 30, 2017 by Neil Smith 4395
Estimates vary, but it is roughly 1 in 100,000 men and even more rare for women.

Posted Dec 5, 2017 by Aaron Davis 4150

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What can you say my story of how I was born as an http://en.wikipedia.org/wiki/Intersex/DSD person and living my life is as unique as the next person. I’m no different from anyone else, other than being born with an Intersex/ DSD (http://en.wikipe...
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My name is Ivan. I'm a clinical psychologist. I'm 40 years old and I have Kallman's syndrome. Unfortunately, it was diagnosed only a couple of years ago (in 2009).  My first 36 years of life without the diagnosis were not so bad, however, I develo...
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Short version to start with..... Born in 1969. Went to Bradford University to study Biomedical Sciences Was dismissed as a "late bloomer" or "late starter" every time I went to the doctor throughout my teenage years. Diagnosed at 23 at Royal ...
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I have a Portuguese blog where I talked about my syndrome and my desire to become mom.  Is called https://cantinhodossmurfs.wordpress.com

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Kallmann Syndrome forum

KALLMANN SYNDROME FORUM
Kallmann Syndrome forum
We are currently seeking research participants who have been diagnosed with idiopathic hypogonadotropic hypogonadism (IHH), including Kallmann Syndrome (KS), for such a study.  This study is being run through the Pennsylvania State University De...

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