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Kallmann syndrome is an example of hypogonadism (decreased functioning of the sex hormone-producing glands) caused by a deficiency of gonadotropin-releasing hormone (GnRH), which is created by the hypothalamus. Kallmann syndrome is also known as hypothalamic hypogonadism, familial hypogonadism with anosmia, or hypogonadotropic hypogonadism, reflecting its disease mechanism.
Kallmann syndrome is a form of secondary hypogonadism reflecting the fact the primary cause of the defect in sex hormone production lies within the pituitary and hypothalamus rather than a physical defect of the testes or ovaries themselves.
Kallmann syndrome was described in 1944 by Franz Josef Kallmann, a German-American geneticist.[1][2] However, others – such as the Spanish doctor Aureliano Maestre de San Juan – had noticed a correlation between anosmia and hypogonadism in 1856.
The most well known person who has Kallmann syndrome in modern times is the jazz vocalist Jimmy Scott. In 2004, Canadian writer Brian Brett published a memoir, Uproar’s Your Only Music, about growing up with Kallmann syndrome.
Kallmann syndrome is characterized by:
It can occasionally be associated with optic problems, such as colour blindness or optic atrophy, nerve deafness, cleft palate, cryptorchidism, renal agenesis, and mirror movement disorder. However, it is not clear at this time how or if these other problems have the same cause as the hypogonadism and anosmia. These problems are more often present in those without Kallmann syndrome.
Males present with delayed puberty and may have micropenis (although congenital micropenis is not present in the majority of male KS cases).
Females present with delayed puberty (i.e. primary amenorrhea) and lack of secondary sex characteristics, such as breast development.
A fraction of cases may present with post-pubertal onset, which results in a phenotypically normal penis in men with subsequent testicular atrophy and loss of some secondary sex traits. These men generally present with sexual impairment and low libido. In women, late-onset Kallmann Syndrome can result in secondary amenorrhea. Anosmia may or may not be present in these individuals.
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