KALLMANN SYNDROME Meaning and
Definition
-
Kallmann syndrome is a rare genetic disorder characterized by the combination of delayed or absent puberty (hypogonadism) and a lack of sense of smell (anosmia) or reduced sense of smell (hyposmia). It is named after Franz Josef Kallmann, a German-American geneticist who first described the condition in 1944.
Individuals with Kallmann syndrome exhibit a variety of symptoms, including failure to start puberty at the usual age, such as lack of breast development in females, absence of testicular growth in males, and absent or delayed growth of pubic and underarm hair. They may also experience other physical abnormalities, such as a cleft lip or palate, kidney problems, and hearing loss. Intellectual abilities are usually normal, although some individuals may have learning difficulties.
The underlying cause of Kallmann syndrome is typically a genetic mutation that affects the development of the hypothalamus and olfactory system in the brain during fetal development. These genetic mutations most commonly involve genes involved in the production or signaling of a hormone called gonadotropin-releasing hormone (GnRH). GnRH plays a crucial role in triggering the release of hormones that regulate puberty.
Treatment for Kallmann syndrome involves hormone therapy to induce the onset of puberty and restore normal growth and development. In males, testosterone replacement therapy is typically given, whereas in females, estrogen and progesterone may be prescribed. Additionally, individuals may receive treatments to address specific symptoms, such as speech therapy for those with speech difficulties resulting from a cleft lip or palate. Genetic counseling may also be provided to affected individuals and their families, as Kallmann syndrome can be inherited in an autosomal dominant or X-linked recessive manner.
Common Misspellings for KALLMANN SYNDROME
- jallmann syndrome
- mallmann syndrome
- lallmann syndrome
- oallmann syndrome
- iallmann syndrome
- kzllmann syndrome
- ksllmann syndrome
- kwllmann syndrome
- kqllmann syndrome
- kaklmann syndrome
- kaplmann syndrome
- kaolmann syndrome
- kalkmann syndrome
- kalpmann syndrome
- kalomann syndrome
- kallnann syndrome
- kallkann syndrome
- kalljann syndrome
- kallmznn syndrome
- kallmsnn syndrome
Etymology of KALLMANN SYNDROME
The word "Kallmann Syndrome" is named after the German geneticist Franz Josef Kallmann, who first described the condition in 1944. Kallmann Syndrome is a rare genetic disorder characterized by delayed or absent puberty and an impaired sense of smell (anosmia or hyposmia). It is also associated with other health issues, including infertility and various physical abnormalities. Dr. Kallmann's contributions to understanding this condition led to the naming of the syndrome in his honor.
