Kallman syndrome: Difference between revisions

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{{CMG}}
{{CMG}}


{{SK}} Olfactogenital dysplasia; de Morsier-Gauthier syndrome
==[[Kallman syndrome overview|Overview]]==


==Diagnosis==
==[[Kallman syndrome historical perspective|Historical Perspective]]==  
The diagnosis is often one of exclusion found during the workup of delayed puberty. The presence of anosmia together with delayed puberty in either boys or girls should suggest Kallmann syndrome.
==[[Kallman syndrome pathophysiology|Pathophysiology]]==


==Treatment==
==[[Kallman syndrome causes|Causes]]==
Treatment is directed at restoring the deficient hormones -- known as [[hormone therapy]] (HT). Males are administered [[human chorionic gonadotropin]] (hCG) or [[testosterone]]. Females are treated with [[Estrogen|oestrogen]] and [[progestin]]s. 


To induce fertility in males or females, GnRH (aka LHRH) is administered by an [[infusion pump]], or hCG/hMG/FSH/LH combinations are administered through regular injections. Fertility is only maintained whilst actually being treated with these hormones.  Once fertility treatment stops it is necessary to revert to the normal HRT of testosterone for men and oestrogen + progestins for women.
==[[Kallman syndrome differential diagnosis|Differentiating Kallman syndrome from other Diseases]]==


The main health risk, for both men and women, of untreated Kallmann Syndrome is [[osteoporosis]]. Therefore, regular bone density scans (every 2 years or so) are advisable, even if being treated with HRT. Additional medication specifically for osteoporosis is necessary in some cases.
==[[Kallman syndrome epidemiology and demographics|Epidemiology and Demographics]]==


== Epidemiology ==
==[[Kallman syndrome natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
Kallmann syndrome occurs at a rate of 1 in 10,000 male births and 1 in 50,000 female births. It may be inherited as an X-linked condition, an autosomal dominant condition or as an autosomal recessive condition. Statistics are sparse, but it seems that autosomal dominant is the most common form of heredity.


One recent paper <ref name="Quinton">Quinton R. Topical Endocrinology 22. (15-20)</ref> quoted an incidence in males of 0.025%, or 1 in 4,000, with the female incidence being 3 to 5 times less.
==Diagnosis==
[[Kallman syndrome history and symptoms|History and Symptoms]] | [[Kallman syndrome physical examination|Physical Examination]] | [[Kallman syndrome laboratory findings|Laboratory Findings]] | [[Kallman syndrome CT|CT]] | [[Kallman syndrome MRI|MRI]] | [[Kallman syndrome echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Kallman syndrome other imaging findings|Other Imaging Findings]] | [[Kallman syndrome other diagnostic studies|Other Diagnostic Studies]]


Even though mutations in the KAL-1 gene on the X chromosome can cause Kallmann syndrome, only 11-14% of patients with Kallmann syndrome have detectable KAL-1 mutations.
==Treatment==
 
[[Kallman syndrome medical therapy|Medical Therapy]] | [[Kallman syndrome surgery|Surgery]] | [[Kallman syndrome prevention|Prevention]] | [[Kallman syndrome cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Kallman syndrome future or investigational therapies|Future or Investigational Therpies]]
Autosomal dominant mutations have been described with the FGFR-1 (8p12) gene, sometimes referred to as the KAL-2 gene.  This is thought to cause about 10% of cases. However, the majority of KS cases (70%) would seem to be the result of autosomal dominant genes even though the identity of those genes is not yet known.
 
Autosomal recessive mutations of the GnRH receptor gene (4q13.2) have also been reported.<ref name="Quinton"> </ref> This defect appears to produce a wider spectrum of physical symptoms than with the other gene defects, and the defect lies in the ability of the pituitary gland to recognize GnRH, rather than the ability of the hypothalamus to produce GnRH. It is debatable as to whether this is in fact Kallmann syndrome since the GnRH receptor development is not related to anosmia.
There may also be no obvious family history of inheritance (sporadic cases). However, it is possible for Kallmann syndrome genes to be passed on to children of a sporadic case.
 
== Psychological Issues ==
In some cases, the psychological effects of having this condition can outweigh the significance of any physical symptoms.
 
The social stigma of being left behind by your peer group at a vital stage of physical and emotional development can leave lasting damage to some people. Some people with Kallmann syndrome find it difficult to fit into social groups and may have trouble in forming relationships both on the physical and emotional level. This might be more profound in people who are diagnosed later in life.
 
== Practical Issues ==
 
While the lack of sense of smell may not be important when compared to the lack of sexual development, it does give rise to a few situations where care should be taken. These can include:
 
Personal hygiene.
 
Gas leaks within the home. Fitting gas detectors within the home is recommended.
 
Food & drink spoilage. Extra care should be taken with the expiration dates for food and drink.
 
== References ==
<references/>
 
==External links==


*[http://www.kallmanns.org/ Updated information web site on Kallmann syndrome]
==Case Studies==
*[http://www.hypohh.net/ Information web site on Kallmann's syndrome]
[[Kallman syndrome case study one|Case #1]]
*[http://news.bbc.co.uk/1/hi/magazine/4492814.stm Man, 33, seeks puberty] The case of Lawrence Koomson a physician who was treated for the condition as filmed in the documentary. (BBC)


{{Endocrine pathology}}
{{Endocrine pathology}}
{{Symptoms and signs}}   




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[[Category:Syndromes]]
[[Category:Syndromes]]
[[Category:Genetic disorders]]
[[Category:Genetic disorders]]
[[Category:Disease]]


[[de:Kallmann-Syndrom]]
[[de:Kallmann-Syndrom]]

Latest revision as of 18:01, 19 September 2012

Kallman syndrome
The structure of GNRH1
(from PDB: 1YY1​)
ICD-10 E23.0
ICD-9 253.4
OMIM 308700 147950 244200 138850 607002
DiseasesDB 7091
MeSH D017436

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Olfactogenital dysplasia; de Morsier-Gauthier syndrome

Overview

Historical Perspective

Pathophysiology

Causes

Differentiating Kallman syndrome from other Diseases

Epidemiology and Demographics

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therpies

Case Studies

Case #1

de:Kallmann-Syndrom it:Sindrome di Kallmann he:תסמונת קלמן nl:Syndroom van Kallmann fi:Kallmannin oireyhtymä


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