Kallmann syndrome
Kallmann syndrome (pronounced: /ˈkɑːlmən/), is a rare genetic disorder characterized by hypogonadotropic hypogonadism and anosmia. This condition is named after the American geneticist Franz Josef Kallmann, who first described it in 1944.
Etymology
The term "Kallmann syndrome" is derived from the name of Franz Josef Kallmann, a German-American geneticist who first described the condition. The word "syndrome" comes from the Greek "σύνδρομον" (sýndromon), meaning "concurrence of symptoms".
Definition
Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell. This is due to the failure of the hypothalamus to release gonadotropin-releasing hormone (GnRH), which is essential for sexual development.
Symptoms
The primary symptoms of Kallmann syndrome are delayed puberty and a reduced or absent sense of smell. Other symptoms can include cryptorchidism, cleft palate, hearing loss, and renal agenesis.
Causes
Kallmann syndrome is caused by mutations in several genes, including KAL1, FGFR1, PROKR2, and PROK2. These mutations lead to the abnormal development of the hypothalamus, resulting in a deficiency of GnRH.
Diagnosis
Diagnosis of Kallmann syndrome is based on the clinical symptoms of delayed puberty and impaired sense of smell. Genetic testing can confirm the diagnosis.
Treatment
Treatment for Kallmann syndrome typically involves hormone replacement therapy to induce puberty and maintain normal hormone levels. In some cases, fertility treatments may be necessary.
See also
External links
- Medical encyclopedia article on Kallmann syndrome
- Wikipedia's article - Kallmann syndrome
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