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Kallmann syndrome (KS) is a genetic disorder that prevents a person from starting or fully completing puberty. Kallmann syndrome is a form of a group of conditions termed hypogonadotropic hypogonadism . [ 1 ]
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.
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.
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.
A medical triad is a group of three signs or symptoms, the result of injury to three organs, which characterise a specific medical condition. The appearance of all three signs conjoined together in another patient, points to that the patient has the same medical condition, or diagnosis.
In human it is located on the X chromosome at Xp22.3 and is affected in some male individuals with Kallmann syndrome. [2] This gene codes for a protein of the extracellular matrix named anosmin-1, which is involved in the migration of certain nerve cell precursors (neuroendocrine GnRH cells) during embryogenesis .
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