Rare Endocrinology News
Disease Profile
Kallmann syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Childhood
ICD-10
E23.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Kallmann's syndrome; Anosmic hypogonadism; Anosmic idiopathic hypogonadotropic hypogonadism;
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases;
Summary
Kallmann
When the features of Kallmann syndrome are not accompanied by impaired sense of smell, the condition is referred to as idiopathic or isolated hypogonadotropic hypogonadism, or normosmic isolated GnRH deficiency (IGD).
Symptoms
Males with KS may have signs of the condition at birth, such as undescended
Females with KS usually have absent breast development, an attenuated growth spurt, decreased pubic hair growth, and no initiation of menses (primary amenorrhea). However, some females partially undergo puberty with the beginning of breast development that fails to progress. Very occasionally, affected females have onset of menses at an appropriate age, but it stops after a few cycles.[3]
In both males and females, development of pubic hair can be normal because it is controlled by secretion of androgens from the adrenal glands, which are not affected by the condition.[3] Almost all untreated people with KS are infertile, but fertility can be restored in those that respond to certain treatments.[4]
Some people with KS have any of various non-reproductive features. These may include:
- cleft lip and palate
- renal agenesis (one kidney does not develop)
- hearing impairment
- dental abnormalities
- eye movement abnormalities
- poor balance
scoliosis (curvature of the spine)- synkinesis of the hands, in which the movements of one hand are mirrored by the other hand[1][3][2]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Anosmia |
Lost smell
|
0000458 |
Anterior hypopituitarism | 0000830 | |
Decreased fertility |
Abnormal fertility
|
0000144 |
Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 |
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 |
Erectile dysfunction |
Abnormal erection
Erectile abnormalities
[ more ] |
0100639 |
Hypogonadotropic |
0000044 | |
Hyposmia | 0004409 | |
Hypothalamic gonadotropin-releasing |
0003164 | |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
30%-79% of people have these symptoms | ||
Abnormality of the voice |
Voice abnormality
|
0001608 |
Breast hypoplasia |
Underdeveloped breasts
|
0003187 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Reduced bone mineral density |
Low solidness and mass of the bones
|
0004349 |
5%-29% of people have these symptoms | ||
Abnormal morphology of female internal genitalia | 0000008 | |
Abnormality of cardiovascular system morphology | 0030680 | |
0001251 | ||
Bimanual synkinesia |
Hand mirror movements
Mirror hand movements
Mirror movements
[ more ] |
0001335 |
Cleft roof of mouth
|
0000175 | |
Color vision defect |
Abnormal color vision
Abnormality of color vision
[ more ] |
0000551 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Difficulty articulating speech
|
0001260 | |
Dyspareunia | 0030016 | |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Enlarged male breast
|
0000771 | |
Ichthyosis | 0008064 | |
Muscle weakness |
Muscular weakness
|
0001324 |
Muscular |
Low or weak muscle tone
|
0001252 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Obesity |
Having too much body fat
|
0001513 |
Paraplegia |
Leg paralysis
|
0010550 |
Pes cavus |
High-arched foot
|
0001761 |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Primary amenorrhea | 0000786 | |
Drooping upper eyelid
|
0000508 | |
Recurrent fractures |
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] |
0002757 |
Reduced number of teeth |
Decreased tooth count
|
0009804 |
Renal agenesis |
Absent kidney
Missing kidney
[ more ] |
0000104 |
0001250 | ||
Sensorineural hearing impairment | 0000407 | |
Skeletal dysplasia | 0002652 | |
Tremor | 0001337 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
Diagnosis
The diagnosis of Kallmann syndrome additionally relies on
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include isolated congenital gonadotropin deficiency and CHARGE syndrome (see these terms).
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
GNRH Network
COST European Cooperation in Science and Technology
ACTION BM1105
CH 1011 Lausanne
Vaud, Switzerland
Website: https://www.gnrhnetwork.eu/hhn_home/hhn-patients_familles_gnrh_deficiency_kallmann_syndrome.htm -
Hormone Health Network
Toll-free: 1-800-HORMONE (1-800-467-6663)
E-mail: [email protected]
Website: https://www.hormone.org -
The Pituitary Foundation
86 Colston Street
Bristol BS1 5BB
United Kingdom
Telephone: 0117 370 1320
E-mail: [email protected]
Website: https://www.pituitary.org.uk/
Social Networking Websites
- Visit the Kallmann syndrome group on Facebook.
- Visit the following Facebook groups related to Kallmann syndrome:
Kallmann Syndrome & Hypogonadotropic Hypogonadism Community
Kallmann syndrome
Kallmann Syndrome Links and Help
Learn more
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.
Where to Start
- Genetics Home Reference (GHR) contains information on Kallmann syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Kallmann syndrome. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Layman LC. Clinical Genetic Testing for Kallmann Syndrome. J Clin Endocrinol Metab. 2013 May; 98(5):1860-1862.
- Boehm U, Bouloux PM, Dattani MT, de Roux N, Dode C, Dunkel L, et al. Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment. Nature Reviews Endocrinology. 2015 July; 11:547-564.
- Costa-Barbosa FA, Balasubramanian R, Keefe KW, Shaw ND, Al-Tassan N, Plummer L, et al. Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes. J Clin Endocrinol Metab. 2013 May; 98(5):E943-E953.
References
- Jean-Pierre Hardelin and Jacques Young. Kallmann syndrome. Orphanet. June, 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478.
- Kallmann syndrome. Genetics Home Reference. 2008; https://ghr.nlm.nih.gov/condition/kallmann-syndrome. Accessed 12/22/2011.
- Kallmann Syndrome. NORD. November 14, 2012; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/848/viewAbstract.
- Nicholas A Tritos. Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism. Medscape. June 4, 2014; https://emedicine.medscape.com/article/122824-overview.
- Cassandra Buck, Ravikumar Balasubramanian, and William F Crowley, Jr. Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. GeneReviews. July 18, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1334/.
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