XY型純粋性腺形成異常症
WordNet
- free of extraneous elements of any kind; "pure air and water"; "pure gold"; "pure primary colors"; "the violins pure and lovely song"; "pure tones"; "pure oxygen"
- in a state of sexual virginity; "pure and vestal modesty"; "a spinster or virgin lady"; "men have decreed that their women must be pure and virginal" (同)vestal, virgin, virginal, virtuous
- (used of persons or behaviors) having no faults; sinless; "I felt pure and sweet as a new baby"- Sylvia Plath; "pure as the driven snow"
- concerned with theory and data rather than practice; opposed to applied; "pure science"
- free from discordant qualities
- infertility between hybrids
- a gland in which gametes (sex cells) are produced (同)sex gland
- the 24th letter of the Roman alphabet (同)x, ex
- of or relating to the gonads; "gonadal hormones"
PrepTutorEJDIC
- (金など)『混じりけのない』,純粋の / (水など)『汚れていない』,きれいな / (道徳的に)汚れていない,清らかな / (血統が)純粋の,純血の,きっすいの / 《名詞の前にのみ用いて》《話》全くの / 《名詞の前にのみ用いて》(応用的に対して)理論的な,純粋の
- 性腺(せん),生殖腺
- Christ / Christian
UpToDate Contents
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English Journal
- FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
- Bagheri-Fam S1, Ono M2, Li L3, Zhao L4, Ryan J2, Lai R2, Katsura Y5, Rossello FJ6, Koopman P4, Scherer G7, Bartsch O8, Eswarakumar JV3, Harley VR1.
- Human molecular genetics.Hum Mol Genet.2015 Dec 1;24(23):6699-710. doi: 10.1093/hmg/ddv374. Epub 2015 Sep 11.
- Patients with 46,XY gonadal dysgenesis (GD) exhibit genital anomalies, which range from hypospadias to complete male-to-female sex reversal. However, a molecular diagnosis is made in only 30% of cases. Heterozygous mutations in the human FGFR2 gene cause various craniosynostosis syndromes including
- PMID 26362256
- A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.
- Calvel P1, Kusz-Zamelczyk K, Makrythanasis P, Janecki D, Borel C, Conne B, Vannier A, Béna F, Gimelli S, Fichna P, Antonarakis SE, Nef S, Jaruzelska J.
- Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation.Sex Dev.2015 Nov 7. [Epub ahead of print]
- We report the case of a female patient suffering from a 46,XY disorder of sexual development (DSD) with complete gonadal dysgenesis and Wiedemann-Steiner Syndrome (WDSTS). The coexistence of these 2 conditions has not yet been reported. Using whole exome sequencing and comparative genome hybridizati
- PMID 26544196
- Human sex-determination and disorders of sex-development (DSD).
- Bashamboo A1, McElreavey K2.
- Seminars in cell & developmental biology.Semin Cell Dev Biol.2015 Oct 23. pii: S1084-9521(15)00228-1. doi: 10.1016/j.semcdb.2015.10.030. [Epub ahead of print]
- Several new genes and pathways have been identified in recent years associated with human errors of sex-determination or DSD. SOX family gene mutations, as well as mutations involving GATA4, FOG2 and genes involved in MAP kinase signaling have been associated with virilization in 46,XX individuals o
- PMID 26526145
Japanese Journal
- 予防的腹腔鏡下性腺摘除術にて性腺芽腫が発見された46,XY純型性腺異形成の1例
- 中村 優子,松本 光司,越智 寛幸,小貫 麻美子,八木 洋也,中尾 砂理,櫻井 学,川崎 彰子,岡崎 有香,佐藤 豊実
- 日本外科系連合学会誌 39(4), 771-774, 2014
- … 46,XY純型性腺異形成などの低形成性腺は悪性腫瘍を高率に合併するため,予防的な性腺摘除が推奨される.腹腔鏡下手術は低侵襲手術として推奨されるが,悪性腫瘍が存在した場合にはポート再発や術中被膜破綻のリスクが高くなる.今回われわれは,腹腔鏡を用いて予防的性腺摘除を行ったところ性腺芽腫が発見された46,XY純型性腺異形成の症例を経験したので報告する.患者は出生時より女児 …
- NAID 130005094963
- 46, XY性腺形成異常症 (Swyer 症候群) に発生した卵巣混合型悪性胚細胞腫瘍の1例
- 卜部 理恵,鏡 誠治,松浦 祐介,齊藤 研祐,川越 俊典,土岐 尚之,蜂須賀 徹
- 日本臨床細胞学会雑誌 51(1), 22-27, 2012-01-22
- NAID 10030025756
- 46,XY 性腺形成異常症 (Swyer 症候群) に発生した卵巣混合型悪性胚細胞腫瘍の 1 例
- 卜部 理恵,鏡 誠治,松浦 祐介,齋藤 研祐,川越 俊典,土岐 尚之,蜂須賀 徹
- 日本臨床細胞学会雑誌 51(1), 22-27, 2012
- … 背景 : 46,XY 性腺形成異常症 (Swyer 症候群) では未分化性腺から高率に性腺腫瘍が発生し, 組織型は多様である.症例 : 22 歳, 女性 (表現型). …
- NAID 130004696392
Related Links
- Pure gonadal dysgenesis 46, XY symptoms, causes, diagnosis, and treatment information for Pure gonadal dysgenesis 46, XY (Swyer syndrome) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments ...
- Introduction Gonadal dysgenesis is related to the impaired development of the gonad. A major characteristic of a dysgenetic gonad carrying a Y chromosome is its propensity towards malignancy. We reviewed all patients referred to ...
★リンクテーブル★
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- 英
- XY pure gonadal dysgenesis
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異形成、形成不全、形成異常、形成不全症、形成異常症、発育異常、異発生
- 関
- aplasia、aplastic、dysgenetic、dysgenic、dysplasia、dysplastic、heteroplasia、heteroplasmy、hypoplasia、malformation、metaplasia、metaplastic
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- 関
- genital gland、gonad、gonad gland
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- 関
- genuinely、purely、sincere
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- 関
- gonadal
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キサントシン, xanthosine