Kallmann's syndrome
Kallmann's syndrome (pronounced: /ˈkɑːlmən/), also known as Kallmann syndrome or hypogonadotropic hypogonadism, is a genetic disorder characterized by the failure to start or complete puberty and an impaired sense of smell. The syndrome is named after the German-American psychiatrist Franz Josef Kallmann who first described it in 1944.
Etymology
The term "Kallmann's syndrome" is derived from the name of Franz Josef Kallmann, a German-American psychiatrist who first described the condition. The term "hypogonadotropic hypogonadism" refers to the condition's effect on the gonads (the organs that produce sex hormones and gametes), which is caused by a deficiency in the production of certain hormones by the hypothalamus.
Symptoms
The primary symptoms of Kallmann's syndrome are delayed or absent puberty and a reduced or absent sense of smell (anosmia). Other symptoms can include non-reproductive endocrine (hormone) problems, such as an inability to produce sufficient thyroid hormone or growth hormone. Some people with Kallmann's syndrome also have a cleft lip or palate, abnormal eye movements, hearing loss, or abnormalities in tooth development.
Causes
Kallmann's syndrome is a genetic disorder, which means it is caused by abnormalities in the person's genes. It is usually inherited in an X-linked recessive manner, which means that males are more likely to be affected than females. The syndrome is associated with mutations in several different genes, including the KAL1, FGFR1, PROKR2, and PROK2 genes.
Diagnosis
Diagnosis of Kallmann's syndrome is based on the patient's medical history, physical examination, and the results of hormone tests. Genetic testing can confirm the diagnosis and identify the specific gene mutation causing the syndrome.
Treatment
Treatment for Kallmann's syndrome typically involves hormone replacement therapy to induce puberty and maintain normal hormone levels. In some cases, fertility treatments may be used to help individuals with the syndrome have children.
See also
External links
- Medical encyclopedia article on Kallmann's syndrome
- Wikipedia's article - Kallmann's syndrome
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