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Kallmann Syndrome

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by

Trent Voyles

on 10 April 2014

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Transcript of Kallmann Syndrome

Hormone Replacement Therapy
The aim for hormone replacement therapy for both men and women is to ensure that their level of sex hormones are at the normal level for the age of the patient.
Hypogonadism is the term for low sex hormones circulating in the blood stream.

Hypogonadism in HH is when a disruption in the production of the gonadotropin hormones realised by the Anterior Pituitary gland.

These hormones are called Luteinising Hormore(LH) and Follicle Stimulating Hormone(FSH)
Kallmann Syndrome is a genetic condition with the primary symptom where the body cannot start puberty or cannot fully complete it.

Additional symptoms hypogonadism and infertility, along with the total absence of smell(anosmia) or the highly reduction of smell(hyposmia).

Typically 1 in every 10,000 of every 86,000 people have this disorder.
What is it?
Kallmann Syndrome
Continued...
What is Hypogonadism?
A.K.A. Hypophysis

The Size of a pea, weighs around 0.5 gram.

It is a protrusion at the bottom of the hypothalamus inside of a bony cavity covered by a dural fold.

Divided into three parts.
Pituitary Gland
In 1856 Spanish doctor Aureliano San Juan had noticed a correlation between anosmia and hypogonadism.
Kallmann syndrome was described in a paper published in 1944 by Franz Josef Kallmann, a German-American geneticist.
History
Failure to start or fully complete puberty in both men and women
Failure to start menstruation in women
Infertility
Complete or partial lack of sense of smell
Dental defects
Features
Jazz vocalist Jimmy Scott
July 17, 1925 (age 88)
Celebrities
Kallmann Syndrome is a subclassification under Hypogonadotropic Hypogonadism or HH.

Only 50% of HH cases have hearing issues and the ones that do are classified as Kallmann Syndrome.
By Trent Voyles, Anthony Allen, JT Wood, Tyler Henderson
Treatments
Canadian writer Brian Brett
April 28, 1950 (age 63)
Diagnosis
If someone fails to go through puberty, he or she is referred to an endocrinologist for diagnosis and care.
An endocrinologist specializes in hormone disorders and can determine exactly why puberty did not occur.
Pituitary Gland Continued
Who it affects
Kallmann syndrome affects more men than women, affecting approximately 1 in 8,000 to 10,000 males and 1 in 40,000 to 70,000 females worldwide.
How it's inherited
Kallmann syndrome may be inherited or may occur in someone with no family history of the disorder.
The most common inherited form is the X-linked form.

The Pituitary gland contains three divisions. The Anterior, Intermediate, and Posterior. The Intermediate division is very obvious in animals, yet in humans it is only a few cells thick and is considered part of the Anterior portion
Former chairman of the Writers' Union of Canada.
Poet, Memoir Writer, and Fictionist
Author of twelve books
Winner of the Best Canadian non-fiction book award.
It wasn't until Mr. Brett was in his mid 20s that he was diagosed with Kallmann Syndrome. Up untill the diagnoses Mr. Brett was believed to be bigenedered for the reason of never hitting puberty.
Jimmy would go around singing at clubs and later have to sneak out because he was under age and he looked even younger than his actual age. At the age of 23 he was only 4'11.
He married Jean McCarthy on December 31, 2003
In 2004 a movie about Jimmy was released, "Jimmy Scott: If Only You Knew."
Brian Brett
Full transcript