Matches in DBpedia 2016-04 for { <http://wikidata.dbpedia.org/resource/Q1165179> ?p ?o }
- Q1165179 subject Q6500135.
- Q1165179 subject Q7022834.
- Q1165179 subject Q8529710.
- Q1165179 subject Q8763862.
- Q1165179 abstract "Kallmann syndrome is a genetic condition where the primary symptom is a failure to start puberty or a failure to fully complete it. It occurs in both males and females and has the additional symptoms of hypogonadism and almost invariably infertility. Kallmann syndrome also features the additional symptom of an altered sense of smell; either completely absent (anosmia) or highly reduced (hyposmia). Kallmann syndrome occurs when the hypothalamic neurons that are responsible for releasing gonadotropin-releasing hormone (GnRH neurons) fail to migrate into the hypothalamus during embryonic development.Kallmann syndrome is a part of a group of conditions that come under the term hypogonadotropic hypogonadism (HH). The sense of smell is only affected in approximately 50% of HH cases and these cases are termed Kallmann syndrome. Apart from the sense of smell there is no difference in the diagnosis or treatment of a case of HH or a case of Kallmann syndrome.The terminology used when describing cases of HH can vary. The term congenital hypogonadotropic hypogonadism (CHH) is now often used. Other terms used include idiopathic / isolated hypogonadotropic hypogonadism (IHH), normosmic hypogonadotropic hypogonadism (nHH) or hypothalamic hypogonadism. The term HH can be used to cover all cases, including Kallmann syndrome.The term isolated GnRH deficiency (IGD) has increasingly been used to describe this group of conditions as it highlights the primary cause of these conditions and distinguishes them from other conditions such as Klinefelter syndrome or Turner syndrome which share some similar symptoms but have a totally different etiology.The term hypogonadism describes a low level of circulating sex hormones; testosterone in males and oestrogen and progesterone in females. Hypogonadism can occur through a number of different methods. The use of the term hypogonadotropic relates to the fact that the hypogonadism found in HH is caused by a disruption in the production of the gonadotropin hormones normally released by the anterior pituitary gland known as luteinising hormone (LH) and follicle stimulating hormone (FSH).LH and FSH have a direct action on the ovaries in women and testes in men. The absence of LH and FSH means that initially puberty will not commence at the correct time and subsequently the ovaries and testes will not perform their normal fertility function with the maturation and release of eggs in woman and the production of sperm in men alongside their role in producing the sex hormones.The underlying cause of the failure in production of LH and FSH is the impairment of the hypothalamus to release the hormone GnRH which in normal circumstances induces the production of LH and FSH. Without the correct release of GnRH the pituitary gland is unable to release LH and FSH which in turn prevents the ovaries and testes from functioning correctly. This failure in GnRH production can either be due to the absence of the GnRH releasing neurones inside the hypothalamus or the inability of the hypothalamus to release GnRH in the correct pulsatile manner to ensure LH and FSH release from the pituitary.HH can occur as an isolated condition with just the LH and FSH production being affected or it can occur in combined pituitary deficiency conditions such as CHARGE syndrome.To date at least twenty five different genes have so far been implicated in causing Kallmann syndrome or other forms of HH through a disruption in the production or activity of GnRH. The genes involved cover all forms of inheritance and no one gene defect has been shown to be common to all cases which makes genetic testing and inheritance prediction very problematic.Kallmann syndrome was described in a paper published in 1944 by Franz Josef Kallmann, a German-American geneticist. The link between anosmia and hypogonadism had already been noted however, in particular by the Spanish doctor Aureliano Maestre de San Juan in 1856. The condition is sometimes known by his name in Spanish speaking countries.The condition has a low prevalence, estimated as being between 1 in 4,000 and 1 in 10,000 for male HH cases overall and 1 in 50,000 for Kallmann syndrome. It is three to five times more common in males than females. Though whether this is a true sex imbalance or a reflection on how difficult KS / HH is to diagnose correctly, especially in females, has yet to be fully established. A more recent paper published in 2011 gave the incidence in the Finnish population at 1 in 48,000, with a sex distinction of 1 in 30,000 for males and 1 in 125,000 for females.".
- Q1165179 icd10 "E23.0".
- Q1165179 icd9 "253.4".
- Q1165179 meshId "D017436".
- Q1165179 omim "308700".
- Q1165179 thumbnail GNRH1_structure.png?width=300.
- Q1165179 wikiPageExternalLink NCT01709331?view=record.
- Q1165179 wikiPageExternalLink delayed-puberty.com.
- Q1165179 wikiPageExternalLink 4492814.stm.
- Q1165179 wikiPageExternalLink kallmann-syndrome.
- Q1165179 wikiPageExternalLink reproendo.mgh.harvard.edu.
- Q1165179 wikiPageExternalLink BM1105.
- Q1165179 wikiPageExternalLink www.gnrhnetwork.eu.
- Q1165179 wikiPageExternalLink www.gnrhnetwork.eu.
- Q1165179 wikiPageExternalLink www.hypohh.net.
- Q1165179 wikiPageExternalLink www.kallmanns.org.
- Q1165179 wikiPageExternalLink br.fcgi?book=gene&part=kms.
- Q1165179 wikiPageExternalLink 000390.htm.
- Q1165179 wikiPageExternalLink iama_40_year_old_plus_male_with_kallmann_syndrome.
- Q1165179 wikiPageExternalLink watch?v=K3hSC6t2T1U.
- Q1165179 wikiPageExternalLink watch?v=eitQYgCqA-0.
- Q1165179 wikiPageWikiLink Q101065.
- Q1165179 wikiPageWikiLink Q1023604.
- Q1165179 wikiPageWikiLink Q1024175.
- Q1165179 wikiPageWikiLink Q106227.
- Q1165179 wikiPageWikiLink Q1084533.
- Q1165179 wikiPageWikiLink Q11078.
- Q1165179 wikiPageWikiLink Q1121544.
- Q1165179 wikiPageWikiLink Q11364.
- Q1165179 wikiPageWikiLink Q1142188.
- Q1165179 wikiPageWikiLink Q1212935.
- Q1165179 wikiPageWikiLink Q12133.
- Q1165179 wikiPageWikiLink Q12136.
- Q1165179 wikiPageWikiLink Q12171.
- Q1165179 wikiPageWikiLink Q126412.
- Q1165179 wikiPageWikiLink Q13030383.
- Q1165179 wikiPageWikiLink Q1318776.
- Q1165179 wikiPageWikiLink Q1360044.
- Q1165179 wikiPageWikiLink Q1367706.
- Q1165179 wikiPageWikiLink Q1462309.
- Q1165179 wikiPageWikiLink Q1468875.
- Q1165179 wikiPageWikiLink Q1471642.
- Q1165179 wikiPageWikiLink Q14864006.
- Q1165179 wikiPageWikiLink Q14907310.
- Q1165179 wikiPageWikiLink Q14914258.
- Q1165179 wikiPageWikiLink Q1516012.
- Q1165179 wikiPageWikiLink Q15311448.
- Q1165179 wikiPageWikiLink Q1531242.
- Q1165179 wikiPageWikiLink Q15314615.
- Q1165179 wikiPageWikiLink Q156871.
- Q1165179 wikiPageWikiLink Q161238.
- Q1165179 wikiPageWikiLink Q1622678.
- Q1165179 wikiPageWikiLink Q1641332.
- Q1165179 wikiPageWikiLink Q1641423.
- Q1165179 wikiPageWikiLink Q164386.
- Q1165179 wikiPageWikiLink Q165328.
- Q1165179 wikiPageWikiLink Q17004238.
- Q1165179 wikiPageWikiLink Q1703595.
- Q1165179 wikiPageWikiLink Q17145.
- Q1165179 wikiPageWikiLink Q17147.
- Q1165179 wikiPageWikiLink Q174471.
- Q1165179 wikiPageWikiLink Q175621.
- Q1165179 wikiPageWikiLink Q177708.
- Q1165179 wikiPageWikiLink Q178066.
- Q1165179 wikiPageWikiLink Q1784017.
- Q1165179 wikiPageWikiLink Q178694.
- Q1165179 wikiPageWikiLink Q17915102.
- Q1165179 wikiPageWikiLink Q17927891.
- Q1165179 wikiPageWikiLink Q179399.
- Q1165179 wikiPageWikiLink Q18031815.
- Q1165179 wikiPageWikiLink Q18033455.
- Q1165179 wikiPageWikiLink Q18037637.
- Q1165179 wikiPageWikiLink Q18037871.
- Q1165179 wikiPageWikiLink Q18047107.
- Q1165179 wikiPageWikiLink Q18047688.
- Q1165179 wikiPageWikiLink Q18049896.
- Q1165179 wikiPageWikiLink Q18056674.
- Q1165179 wikiPageWikiLink Q18210912.
- Q1165179 wikiPageWikiLink Q183.
- Q1165179 wikiPageWikiLink Q186380.
- Q1165179 wikiPageWikiLink Q187082.
- Q1165179 wikiPageWikiLink Q189763.
- Q1165179 wikiPageWikiLink Q189967.
- Q1165179 wikiPageWikiLink Q194908.
- Q1165179 wikiPageWikiLink Q195614.
- Q1165179 wikiPageWikiLink Q200117.
- Q1165179 wikiPageWikiLink Q200303.
- Q1165179 wikiPageWikiLink Q200774.
- Q1165179 wikiPageWikiLink Q202849.
- Q1165179 wikiPageWikiLink Q204711.
- Q1165179 wikiPageWikiLink Q204785.
- Q1165179 wikiPageWikiLink Q207133.
- Q1165179 wikiPageWikiLink Q208360.
- Q1165179 wikiPageWikiLink Q21163349.
- Q1165179 wikiPageWikiLink Q222634.
- Q1165179 wikiPageWikiLink Q2304401.