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- W2086525344 endingPage "56" @default.
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- W2086525344 abstract "Idiopathic hypogonadotropic hypogonadism is a rare disease that is characterized by delayed/absent puberty and/or infertility due to an insufficient stimulation of an otherwise normal pituitary-gonadal axis by gonadotrophin-releasing hormone (GnRH) action. Because reduced or normal luteinizing hormone (LH)/follicle-stimulating hormone (FSH) levels may be observed in the affected patients, the term idiopathic central hypogonadism (ICH) appears to be more appropriate. This disease should be distinguished from central hypogonadism that is combined with other pituitary deficiencies. Isolated ICH has a complex pathogenesis and is fivefold more prevalent in males. ICH frequently appears in a sporadic form, but several familial cases have also been reported. This finding, in conjunction with the description of numerous pathogenetic gene variants and the generation of several knockout models, supports the existence of a strong genetic component. ICH may be associated with several morphogenetic abnormalities, which include osmic defects that, with ICH, constitute the cardinal manifestations of Kallmann syndrome (KS). KS accounts for approximately 40% of the total ICH cases and has been generally considered to be a distinct subgroup. However, the description of several pedigrees, which include relatives who are affected either with isolated osmic defects, KS, or normo-osmic ICH (nICH), justifies the emerging idea that ICH is a complex genetic disease that is characterized by variable expressivity and penetrance. In this context, either multiple gene variants or environmental factors and epigenetic modifications may contribute to the variable disease manifestations. We review the genetic mechanisms that are presently known to be involved in ICH pathogenesis and provide a clinical overview of the 227 cases that have been collected by the collaborating centres of the Italian ICH Network." @default.
- W2086525344 created "2016-06-24" @default.
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- W2086525344 date "2011-12-05" @default.
- W2086525344 modified "2023-10-01" @default.
- W2086525344 title "New understandings of the genetic basis of isolated idiopathic central hypogonadism" @default.
- W2086525344 cites W1825488655 @default.
- W2086525344 cites W1880891411 @default.
- W2086525344 cites W1975612258 @default.
- W2086525344 cites W1977865535 @default.
- W2086525344 cites W1981991387 @default.
- W2086525344 cites W1987766969 @default.
- W2086525344 cites W1990987097 @default.
- W2086525344 cites W1993031866 @default.
- W2086525344 cites W1993957466 @default.
- W2086525344 cites W1994991637 @default.
- W2086525344 cites W1996442703 @default.
- W2086525344 cites W2000700513 @default.
- W2086525344 cites W2002934925 @default.
- W2086525344 cites W2003282533 @default.
- W2086525344 cites W2003673349 @default.
- W2086525344 cites W2005598045 @default.
- W2086525344 cites W2006433593 @default.
- W2086525344 cites W2010920434 @default.
- W2086525344 cites W2011817955 @default.
- W2086525344 cites W2012850984 @default.
- W2086525344 cites W2013797524 @default.
- W2086525344 cites W2013806256 @default.
- W2086525344 cites W2015386663 @default.
- W2086525344 cites W2020719725 @default.
- W2086525344 cites W2021996823 @default.
- W2086525344 cites W2022958390 @default.
- W2086525344 cites W2025086258 @default.
- W2086525344 cites W2028777780 @default.
- W2086525344 cites W2029618197 @default.
- W2086525344 cites W2037624480 @default.
- W2086525344 cites W2040078258 @default.
- W2086525344 cites W2040183641 @default.
- W2086525344 cites W2040226158 @default.
- W2086525344 cites W2041713925 @default.
- W2086525344 cites W2045690475 @default.
- W2086525344 cites W2045854255 @default.
- W2086525344 cites W2046739599 @default.
- W2086525344 cites W2047329075 @default.
- W2086525344 cites W2048872158 @default.
- W2086525344 cites W2051108558 @default.
- W2086525344 cites W2054445281 @default.
- W2086525344 cites W2055633353 @default.
- W2086525344 cites W2055778508 @default.
- W2086525344 cites W2061798913 @default.
- W2086525344 cites W2061867414 @default.
- W2086525344 cites W2067065427 @default.
- W2086525344 cites W2067130406 @default.
- W2086525344 cites W2068053473 @default.
- W2086525344 cites W2069935884 @default.
- W2086525344 cites W2070138234 @default.
- W2086525344 cites W2073220855 @default.
- W2086525344 cites W2075500765 @default.
- W2086525344 cites W2076924133 @default.
- W2086525344 cites W2079455457 @default.
- W2086525344 cites W2080633335 @default.
- W2086525344 cites W2083668812 @default.
- W2086525344 cites W2085057361 @default.
- W2086525344 cites W2092614270 @default.
- W2086525344 cites W2095861370 @default.
- W2086525344 cites W2096568025 @default.
- W2086525344 cites W2098762562 @default.
- W2086525344 cites W2099553437 @default.
- W2086525344 cites W2101121629 @default.
- W2086525344 cites W2102932294 @default.
- W2086525344 cites W2111338104 @default.
- W2086525344 cites W2113395639 @default.
- W2086525344 cites W2113955875 @default.
- W2086525344 cites W2116390260 @default.
- W2086525344 cites W2120568375 @default.
- W2086525344 cites W2121966708 @default.
- W2086525344 cites W2121986949 @default.
- W2086525344 cites W2125880954 @default.
- W2086525344 cites W2128847584 @default.
- W2086525344 cites W2141217442 @default.
- W2086525344 cites W2141759106 @default.
- W2086525344 cites W2142210336 @default.
- W2086525344 cites W2142402192 @default.
- W2086525344 cites W2142686356 @default.
- W2086525344 cites W2143506157 @default.
- W2086525344 cites W2145305414 @default.
- W2086525344 cites W2145632902 @default.
- W2086525344 cites W2150058932 @default.
- W2086525344 cites W2151613225 @default.
- W2086525344 cites W2157279176 @default.
- W2086525344 cites W2158061036 @default.