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Kallmann syndrome is a form of a group of conditions termed hypogonadotropic hypogonadism. [1] To distinguish it from other forms of hypogonadotropic hypogonadism, Kallmann syndrome has the additional symptom of a total lack of sense of smell (anosmia) or a reduced sense of smell.
Another clinical sign of CHH, more specifically Kallmann syndrome, is a lack of a sense of smell due to the altered migration of GnRH neurons on the olfactory placode. Kallmann syndrome can also be shown through MRI imaging with irregular morphology or aplasia of the olfactory bulb and olfactory sulci.
Kallmann syndrome. This genetic condition refers to an abnormally developed hypothalamus, which can affect the secretion of pituitary hormones. Affected patients typically have an underdeveloped ...
Franz Josef Kallmann, MD (July 24, 1897 – May 12, 1965), a German-born American psychiatrist, was one of the pioneers in the study of the genetic basis of psychiatric disorders. He developed the use of twin studies in the assessment of the relative roles of heredity and the environment in the pathogenesis of psychiatric disease.
The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism. To date, at least 25 different genes have been implicated in causing gonadotropin-releasing hormone (GnRH) deficiency conditions such as Kallmann syndrome (KS) or other forms of congenital hypogonadotropic hypogonadism (CHH) through a disruption in the production or activity of GnRH.
Kallmann syndrome; Kapur–Toriello syndrome; Karak syndrome; Karsch-Neugebauer syndrome; Kartagener's syndrome; Kasabach–Merritt syndrome; Katz syndrome; Kaufman oculocerebrofacial syndrome; Kearns–Sayre syndrome; Keppen–Lubinsky syndrome; Keratitis–ichthyosis–deafness syndrome; Keratosis linearis with ichthyosis congenita and ...
Examples of hypothalamic defects include Kallmann syndrome. Examples of pituitary defects include hypopituitarism and pituitary hypoplasia . An example of a hypogonadism resulting from the lack of hormone response is androgen insensitivity syndrome , where there are inadequate receptors to bind the testosterone, resulting in varying clinical ...
Absence or damage to the protein results in Kallmann syndrome in humans, which is characterized by loss of olfactory bulbs and GnRH secretion leading to anosmia and hypothalamic hypogonadotropic hypogonadism. Anosmin-1 is coded by the KAL-1 gene, which is found on the X chromosome. Anosmin-1 is 100 kilodaltons and is expressed on the outside of ...