The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the sense of smell||90%|
|Hypoplasia of penis||90%|
|Abnormality of the voice||50%|
|Reduced bone mineral density||50%|
|Abnormality of color vision||7.5%|
|Delayed skeletal maturation||7.5%|
|Neurological speech impairment||7.5%|
|Reduced number of teeth||7.5%|
|Rocker bottom foot||7.5%|
|Sensorineural hearing impairment||7.5%|
|Decreased circulating follicle stimulating hormone level||-|
|Decreased circulating luteinizing hormone level||-|
|Hypothalamic gonadotropin-releasing hormone deficiency||-|
|Impaired FSH and LH secretion||-|
|Leydig cell insensitivity to gonadotropin||-|
|Olfactory lobe agenesis||-|
|Sparse pubic hair||-|
|Unilateral renal agenesis||-|
The majority of people with KS have a negative family history (the condition occurs sporadically). However, affected people are still at risk to pass the responsible mutation(s) on to their children, or to have an affected child. The risk for each child to be affected depends on the genetic cause in each case, and may be up to 50%.
People with personal questions about the genetic cause and inheritance of KS are encouraged to speak with a genetic counselor or other genetics professional. The genetic cause in many cases remains unknown, and a thorough family history should be obtained to understand the mode of inheritance in each family and to aid in genetic testing and counseling. Information about whether specific features are present in all family members can help determine the mode of inheritance.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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My doctor just told me that I may have Kallmann syndrome. He is not completely sure because I have complete physical development. I am a woman. I am 35 years old and I never had a menstrual cycle. I recently did a blood test and the results say I already went through menopause. I have been struggling my whole life with the symptoms and I would love to learn more. See answer
My boyfriend has Kallmann syndrome but won't let me come to the doctor with him to ask questions. He told me that it is possible for him to have children if he takes a certain medicine for a while before trying. Can our children get Kallmann syndrome? Will it create more of a chance of birth defects or autism or anything? See answer
Is it possible for me to have kids if I have Kallmann syndrome? See answer