Kallmann syndrome

出典: meddic

カルマン症候群

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2013/05/19 12:57:12」(JST)

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英文文献

  • Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome.
  • Layman WS, Hurd EA, Martin DM.AbstractCHARGE is a multiple congenital anomaly disorder and a common cause of pubertal defects, olfactory dysfunction, growth delays, deaf-blindness, balance disorders and congenital heart malformations. Mutations in CHD7, the gene encoding chromodomain helicase DNA binding protein 7, are present in 60-80% of individuals with the CHARGE syndrome. Mutations in CHD7 have also been reported in the Kallmann syndrome (olfactory dysfunction, delayed puberty and hypogonadotropic hypogonadism). CHD7 is a positive regulator of neural stem cell proliferation and olfactory sensory neuron formation in the olfactory epithelium, suggesting that the loss of CHD7 might also disrupt development of other neural populations. Here we report that female Chd7(Gt/+) mice have delays in vaginal opening and estrus onset, and erratic estrus cycles. Chd7(Gt/+) mice also have decreased circulating levels of luteinizing hormone and follicle-stimulating hormone but apparently normal responsiveness to gonadotropin-releasing hormone (GnRH) agonist and antagonist treatment. GnRH neurons in the adult Chd7(Gt/+) hypothalamus and embryonic nasal region are diminished, and there is decreased cellular proliferation in the embryonic olfactory placode. Expression levels of GnRH1 and Otx2 in the hypothalamus and GnRHR in the pituitary are significantly reduced in adult Chd7(Gt/+) mice. Additionally, Chd7 mutant embryos have CHD7 dosage-dependent reductions in expression levels of Fgfr1, Bmp4 and Otx2 in the olfactory placode. Together, these data suggest that CHD7 has critical roles in the development and maintenance of GnRH neurons for regulating puberty and reproduction.
  • Human molecular genetics.Hum Mol Genet.2011 Aug 15;20(16):3138-50. Epub 2011 May 19.
  • CHARGE is a multiple congenital anomaly disorder and a common cause of pubertal defects, olfactory dysfunction, growth delays, deaf-blindness, balance disorders and congenital heart malformations. Mutations in CHD7, the gene encoding chromodomain helicase DNA binding protein 7, are present in 60-80%
  • PMID 21596839

和文文献

  • Keratinocyte-derived anosmin-1, an extracellular glycoprotein encoded by the X-linked Kallmann syndrome gene, is involved in modulation of epidermal nerve density in atopic dermatitis
  • TENGARA Suhandy,TOMINAGA Mitsutoshi,KAMO Atsuko,TANEDA Kenichi,NEGI Osamu,OGAWA Hideoki,TAKAMORI Kenji
  • Journal of dermatological science 58(1), 64-71, 2010-04-01
  • NAID 10027400427

関連リンク

Kallmann syndrome is a genetic disorder marked by anosmia and hypogonadism - the decreased functioning of the glands that produce sex hormones. Abnormalities in various genes may cause a defect in the hypothalamus, causing a deficiency ...

関連画像

Kallmann SyndromeKallmann syndromeKallmann syndromeKallmann_syndrome PicturesKallmann Syndromeof Kallmann syndrome / HH. | Kallmann


★リンクテーブル★
リンク元カルマン症候群
関連記事syndrome

カルマン症候群」

  [★]

Kallmann's syndrome Kallmann syndrome
Kallmann症候群

概念

遺伝

病態

  • 視床下部の先天性の形成異常(神経核の欠損など)を来して、GnRHの分泌低下と嗅覚の異常を呈する。

症候

検査

  • FSH、LH低値

鑑別疾患

  • GnRH単独欠損症
  • GnRH受容体異常症

治療

  • 挙児を希望する場合にはhCG-hMG療法やGnRHの間欠投与

参考

  • 1. [charged] 先天性性腺刺激ホルモン放出ホルモン欠乏症(特発性低ゴナドトロピン性性腺機能低下) - uptodate [1]

OMIM

  • 1: #308700. KALLMANN SYNDROME 1; KAL1; Gene map locus Xp22.3
[display]http://omim.org/entry/308700
  • 2: #147950. KALLMANN SYNDROME 2; KAL2; Gene map locus 8p11.2-p11.1
[display]http://omim.org/entry/147950
  • 3: #244200. KALLMANN SYNDROME 3; KAL3; Gene map locus 20p13
[display]http://omim.org/entry/244200
  • 4: #610628. KALLMANN SYNDROME 4; KAL4; Gene map locus 3p21.1
[display]http://omim.org/entry/610628
  • 5: #612370. KALLMANN SYNDROME 5; KAL5; Gene map locus 8q12.1
[display]http://omim.org/entry/612370
  • 6: #612702. KALLMANN SYNDROME 6; KAL6; Gene map locus 10q24
[display]http://omim.org/entry/612702

国試



syndrome」

  [★]

  • n.

WordNet   license wordnet

「a pattern of symptoms indicative of some disease」

WordNet   license wordnet

「a complex of concurrent things; "every word has a syndrome of meanings"」

PrepTutorEJDIC   license prepejdic

「(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態」




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