Learn About Kallmann Syndrome

What is the definition of Kallmann Syndrome?

Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell.

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What are the causes of Kallmann Syndrome?

Changes in more than 20 genes have been associated with Kallmann syndrome. Among the most common causes of the condition are mutations in the ANOS1, CHD7, FGF8, FGFR1, PROK2, or PROKR2 gene. In some cases, affected individuals have mutations in more than one of these genes. Additionally, researchers have identified mutations in other genes that may contribute to the development and features of Kallmann syndrome, but are unlikely to cause the disease on their own.

How prevalent is Kallmann Syndrome?

Kallmann syndrome occurs more often in males than in females, with an estimated prevalence of 1 in 30,000 males and 1 in 120,000 females.

Is Kallmann Syndrome an inherited disorder?

When Kallmann syndrome is caused by ANOS1 gene mutations, the condition has an X-linked recessive pattern of inheritance. The ANOS1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to be present in both copies of the gene to cause the disorder. No females with two ANOS1 gene mutations have been reported in the medical literature. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Who are the top Kallmann Syndrome Local Doctors?
Elite
Highly rated in
9
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Endocrinology

Mass General Brigham

Massachusetts General Hospital

55 Fruit St 
Boston, MA 2114

Stephanie Seminara is an Endocrinologist in Boston, Massachusetts. Dr. Seminara has been practicing medicine for over 31 years and is rated as an Elite doctor by MediFind in the treatment of Kallmann Syndrome. She is also highly rated in 9 other conditions, according to our data. Her top areas of expertise are Hypogonadism, Hypogonadotropic Hypogonadism, Isolated Hypogonadotropic Hypogonadism, and Kallmann Syndrome. She is licensed to treat patients in Massachusetts. Dr. Seminara is currently accepting new patients.

Elite
Highly rated in
29
conditions

Université Paris Saclay

Paris, FR 

Jacques Young is in Paris, France. Young is rated as an Elite expert by MediFind in the treatment of Kallmann Syndrome. He is also highly rated in 29 other conditions, according to our data. His top areas of expertise are Hypogonadotropic Hypogonadism, Hypogonadism, Autosomal Cleft Palate, and Kallmann Syndrome.

 
 
 
 
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Elite
Highly rated in
15
conditions

Assistance Publique Hôpitaux De Paris

Paris, FR 

Luigi Maione is in Paris, France. Maione is rated as an Elite expert by MediFind in the treatment of Kallmann Syndrome. He is also highly rated in 15 other conditions, according to our data. His top areas of expertise are Hypogonadotropic Hypogonadism, Hypogonadism, Midline Cleft of Lower Lip, and Autosomal Cleft Palate.

What are the latest Kallmann Syndrome Clinical Trials?
GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age
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Molecular Basis of Inherited Reproductive Disorders
Who are the sources who wrote this article ?

Published Date:updated Last, December

Published By: National Institutes of Health

What are the Latest Advances for Kallmann Syndrome?
Successful pregnancy and delivery after a vitrified-warmed embryo transfer in a woman with Kallmann syndrome: A case report and literature review.
A novel heterozygous mutation of CHD7 gene in a Chinese patient with Kallmann syndrome: a case report.
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Molecular genetics and phenotypic features of congenital isolated hypogonadotropic hypogonadism.