Definitions for kallmann syndrome
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Kallmann syndrome is a genetic condition which results in the failure to commence or the non-completion of puberty. It is characterised by hypogonadism and by a total lack of sense of smell or a heavily reduced sense of smell. The term hypogonadism describes a low level of circulating sex related hormones;. It is part of a family of conditions that come under the term hypogonadotropic hypogonadism. The condition can also be known as congenital hypogonadotrophic hypogonadism, isolated hypogonadotropic hypogonadism, hypothalamic hypogonadism or familial hypogonadism. The additional phrase "with anosmia" is used to indicate if a normal sense of smell is absent. Kallmann syndrome is a specific form of isolated hypogonadotropic hypogonadism where there is an associated lack of sense of smell. Approximately 50% of HH cases occur with no sense of smell and are termed as Kallmann Syndrome. There is no distinction between Kallmann syndrome and other forms of HH in terms of diagnosis and treatment, apart from the fact that Kallmann syndrome is associated with the lack of sense of smell. Abnormalities in various genes have be shown to disrupt the ability of the hypothalamus to produce gonadotrophin releasing hormone GnRH which in turn causes the pituitary to fail to release sufficient levels of follicle-stimulating hormone and luteinizing hormone. LH and FSH have a direct action on the testes in men and ovaries in women.
U.S. National Library of Medicine
A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
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"kallmann syndrome." Definitions.net. STANDS4 LLC, 2014. Web. 23 Oct. 2014. <http://www.definitions.net/definition/kallmann syndrome>.