混合型性腺形成不全症
WordNet
- combine (electronic signals); "mixing sounds"
- add as an additional element or part; "mix water into the drink" (同)mix in
- the act of mixing together; "paste made by a mix of flour and water"; "the mixing of sound channels in the recording studio" (同)commixture, admixture, mixture, intermixture, mixing
- an event that combines things in a mixture; "a gradual mixture of cultures" (同)mixture
- a commercially prepared mixture of dry ingredients (同)premix
- to bring or combine together or with something else; "resourcefully he mingled music and dance" (同)mingle, commix, unify, amalgamate
- infertility between hybrids
- a gland in which gametes (sex cells) are produced (同)sex gland
- of or relating to the gonads; "gonadal hormones"
PrepTutorEJDIC
- 〈複数のもの〉‘を'『混ぜ合わせる』,混合する,混同する / …‘を'混ぜ合わせて作る,調合して作る / …‘を'寄せ集める,まとめる / 〈物が〉(…と)混ざる,混合する《+『with』+『名』》 / 〈人が〉(他の人と)交わる,交際する《+『with』+『名』》 / 〈C〉〈U〉混合 / 〈C〉混合物(食品,薬) / 〈C〉〈U〉(水・火を加えて即席にでき上がる)素(もと),ミックス
- 性腺(せん),生殖腺
- (異なった成分(要素)のものが)混ざった,混合の,混成の / 男女混合の / 人種(宗教・国籍など)が違う人々の(から成る)
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2013/01/12 13:20:30」(JST)
[Wiki en表示]
Mixed gonadal dysgenesis |
Classification and external resources |
DiseasesDB |
29266 |
MeSH |
D006060 |
Mixed gonadal dysgenesis is a condition of unusual and asymmetrical gonadal development leading to an unassigned sex differentiation. A number of differences have been reported in the karyotype, most commonly a mosaicism 45,X/ 46, XY. If Turner syndrome is defined as a condition where one sex chromosome is absent or abnormal, mixed gonadal dysgenesis may be interpreted as a specific variation of Turner’s. The phenotypical expression may be ambiguous, intersex, or male, or female pending the extent of the mosaicism.
It has been pointed out that the gonads may not be symmetrical, thus the development of the Müllerian duct and Wolffian duct may be asymmetrical, too.[1] Because of the presence of dysgenetic gonadal tissue and Y chromosome material, there is a high risk of the development of a gonadoblastoma, thus removal of the gonads is usually indicated.
Although similar in some ways to true hermaphroditism, the conditions can be distinguished histologically.[2]
See also
References
- ^ Donahoe PK, Crawford JD, Hendren WH (1979). "Mixed gonadal dysgenesis, pathogenesis, and management". J. Pediatr. Surg. 14 (3): 287–300. doi:10.1016/S0022-3468(79)80486-8. PMID 480090. http://linkinghub.elsevier.com/retrieve/pii/S0022346879000531.
- ^ Kim KR, Kwon Y, Joung JY, Kim KS, Ayala AG, Ro JY (October 2002). "True hermaphroditism and mixed gonadal dysgenesis in young children: a clinicopathologic study of 10 cases". Mod. Pathol. 15 (10): 1013–9. doi:10.1097/01.MP.0000027623.23885.0D. PMID 12379746.
Female congenital anomalies of the genitalia, including Intersex and DSD: (Q50–Q52; 752.0–752.4)
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Internal |
Uterine malformation |
- Müllerian agenesis
- Unicornuate uterus
- Uterus didelphys
- Bicornuate uterus
- Uterine septum
- Arcuate uterus
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Vagina |
- Vaginal septum
- Vaginal atresia
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External |
- Clitoromegaly
- Progestin-induced virilisation
- Pseudohermaphroditism
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noco/cong/npls, sysi/epon
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proc/asst, drug (G1/G2B/G3CD)
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Pathology: chromosome abnormalities (Q90–Q99, 758)
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Autosomal |
Trisomies |
- Down syndrome
- Edwards syndrome
- Patau syndrome
- Trisomy 9
- Trisomy 8/Warkany syndrome 2
- Trisomy 22/Cat eye syndrome
- Trisomy 16
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Monosomies/deletions |
- 1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome
- Wolf-Hirschhorn syndrome
- Cri du chat/Chromosome 5q deletion syndrome
- Williams syndrome
- Jacobsen syndrome
- Miller–Dieker syndrome/Smith–Magenis syndrome
- DiGeorge syndrome
- 22q13 deletion syndrome
- genomic imprinting
- Angelman syndrome/Prader–Willi syndrome (15)
- Distal 18q-/Proximal 18q-
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X/Y linked |
Monosomy |
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Trisomy/tetrasomy,
other karyotypes/mosaics |
- Klinefelter syndrome (47,XXY)
- 48,XXYY
- 48,XXXY
- 49,XXXYY
- 49,XXXXY
- Triple X syndrome (47,XXX)
- 48,XXXX
- 49,XXXXX
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Translocations |
Leukemia/lymphoma |
Lymphoid |
- Burkitt's lymphoma t(8 MYC;14 IGH)
- Follicular lymphoma t(14 IGH;18 BCL2)
- Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH)
- Anaplastic large cell lymphoma t(2 ALK;5 NPM1)
- Acute lymphoblastic leukemia
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Myeloid |
- Philadelphia chromosome t(9 ABL; 22 BCR)
- Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1)
- Acute promyelocytic leukemia t(15 PML,17 RARA)
- Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1)
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Other |
- Ewing's sarcoma t(11 FLI1; 22 EWS)
- Synovial sarcoma t(x SYT;18 SSX)
- Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB)
- Myxoid liposarcoma t(12 DDIT3; 16 FUS)
- Desmoplastic small round cell tumor t(11 WT1; 22 EWS)
- Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)
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Other |
- Fragile X syndrome
- Uniparental disomy
- XX male syndrome
- Ring chromosome (13; 14; 15; 20)
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External links
- Mixed gonadal dysgenesis Children's Hospital Boston
UpToDate Contents
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English Journal
- OVOTESTICULAR DISORDER OF SEX DEVELOPMENT: A SINGLE-CENTER EXPERIENCE.
- Khadilkar KS, Budyal SR, Kasaliwal R, Sathe PA, Kandalkar B, Sanghvi BV, Parelkar SV, Lila AR, Bandgar T, Shah NS.
- Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists.Endocr Pract.2015 Jul;21(7):770-6. doi: 10.4158/EP15606.OR. Epub 2015 Mar 18.
- OBJECTIVE: Ovotesticular disorder of sex development (OT DSD) is a rare disorder of sex development characterized by the presence in the same individual of both histologically proven testis and ovary. There are scant data from the Indian subcontinent regarding this disorder. The aim of this study wa
- PMID 25786559
- Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development.
- Abacı A, Çatlı G, Berberoğlu M.
- Journal of pediatric endocrinology & metabolism : JPEM.J Pediatr Endocrinol Metab.2015 Apr 16. pii: /j/jpem.ahead-of-print/jpem-2014-0522/jpem-2014-0522.xml. doi: 10.1515/jpem-2014-0522. [Epub ahead of print]
- Disorders of sex development (DSD) are a generic definition including any problem noted at birth where the genitalia are atypical in relation to the chromosomes or gonads. The most important clinical problems in DSD comprise physical and psychological disturbances and the risk of gonadal tumor devel
- PMID 25879315
- Identification of X monosomy cells from a gonad of mixed gonadal dysgenesis with a 46,XY karyotype: case report.
- Nishina-Uchida N1, Fukuzawa R, Hasegawa Y, Morison IM.
- Medicine.Medicine (Baltimore).2015 Apr;94(14):e720. doi: 10.1097/MD.0000000000000720.
- Mixed gonadal dysgenesis (MGD) is a disorder of sexual development that typically has a mosaic 45,X/46,XY karyotype. A 1-year-old infant with 46,XY identified by peripheral blood karyotype demonstrated clinical manifestations and gonadal pathologic features of MGD. Fluorescence in situ hybridization
- PMID 25860218
Japanese Journal
- 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
- 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
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- 混合型性腺形成異常症
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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
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- aplasia、aplastic、dysgenetic、dysgenic、dysplasia、dysplastic、heteroplasia、heteroplasmy、hypoplasia、malformation、metaplasia、metaplastic
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- admix、admixture、blend、intermingle、merge、mixture、scramble、shuffle、shuffling
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- genital gland、gonad、gonad gland
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- gonadal
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- combined