性腺異形成
WordNet
- infertility between hybrids
- a gland in which gametes (sex cells) are produced (同)sex gland
- of or relating to the gonads; "gonadal hormones"
PrepTutorEJDIC
- 性腺(せん),生殖腺
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2012/03/19 13:46:08」(JST)
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Gonadal dysgenesis |
Classification and external resources |
ICD-10 |
Q99.1 |
ICD-9 |
758.6 |
MeSH |
D006059 |
Gonadal dysgenesis is a term used to describe multiple reproductive system development disorders.[1] They are conditions of genetic origin.[2] It is characterized by a progressive loss of primordial germ cells on the developing gonads of an embryo. This loss leads to extremely hypoplastic (underdeveloped) and dysfunctioning gonads mainly composed of fibrous tissue, hence the name streak gonads - i.e., a form of aplasia in which the ovary is replaced by a functionless tissue, as found in Turner syndrome.
It originally referred to Turner syndrome, but use of the term has expanded to cover other conditions.[3]
Contents
- 1 Pathogenesis
- 2 Embryology
- 3 Causes
- 4 See also
- 5 References
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Pathogenesis
During embryogenesis, without any external influences for or against, the human reproductive system is intrinsically conditioned to give rise to a female reproductive organisation. As a result, if a gonad cannot express its sexual identity via its hormones—as in gonadal dysgenesis—then the affected person, no matter whether genetically male or female, will develop external female genitalia. Internal female genitalia, primarily the uterus, may or may not be present depending on the etiology of the disorder.
In both sexes, the commencement and progression of puberty require functional gonads that will work in harmony with the hypothalamic and pituitary glands to produce adequate hormones. For this reason, in gonadal dysgenesis the accompanying hormonal failure also prevents the development of secondary sex characteristics in either sex, resulting in a sexually infantile female appearance and infertility.
Embryology
This condition will occur if there is an absence of both Mullerian inhibiting factor and testosterone. The absence of testosterone will result in regression of the Wolffian ducts; normal male internal reproductive tracts will not develop. The absence of Mullerian inhibiting factor will allow the Mullerian ducts to differentiate into the oviducts and uterus. In sum, this individual will be genotypically male (i.e., XY), yet will possess female-like internal and external reproductive characteristics.
Causes
The condition may be due to:
- Turner syndrome, and its variations (i.e. mosaicism)
- XX gonadal dysgenesis, also pure gonadal dysgenesis, 46, XX
- Swyer syndrome, also pure gonadal dysgenesis, 46, XY
- Perrault syndrome, XX gonadal dysgenesis + sensorineural hearing loss
- Mixed gonadal dysgenesis
- Endocrine disruptors
See also
References
- ^ M. Sperling (2008). Pediatric endocrinology. Elsevier Health Sciences. pp. 667–. ISBN 9781416040903. http://books.google.com/books?id=jIxXJCxGNvAC&pg=PA667. Retrieved 27 October 2010.
- ^ Eberhard Nieschlag; Hermann M. Behre; Susan Nieschlag (July 2009). Andrology: Male Reproductive Health and Dysfunction. Springer. pp. 221–. ISBN 9783540783541. http://books.google.com/books?id=mEgckDNkonUC&pg=PA221. Retrieved 10 November 2010.
- ^ Douglas T. Carrell (15 February 2010). Reproductive Endocrinology and Infertility: Integrating Modern Clinical and Laboratory Practice. Springer. pp. 308. ISBN 9781441914354. http://books.google.com/books?id=lcBEheiufVcC&pg=PA308. Retrieved 27 October 2010.
Pathology: chromosome abnormalities (Q90–Q99 · 758)
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Autosomal |
Trisomies
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Down syndrome (21) · Edwards syndrome (18) · Patau syndrome (13)
Trisomy 9 · Trisomy 8/Warkany syndrome 2 (8) · Trisomy 22/Cat eye syndrome (22) · Trisomy 16
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Monosomies/deletions
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1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome (1) · Wolf-Hirschhorn syndrome (4) · Cri du chat/Chromosome 5q deletion syndrome (5) · Williams syndrome (7) · Jacobsen syndrome (11) · Miller–Dieker syndrome/Smith–Magenis syndrome (17) · DiGeorge syndrome (22) · 22q13 deletion syndrome (22)
genomic imprinting (Angelman syndrome/Prader–Willi syndrome (15))
Distal 18q-/Proximal 18q-
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X/Y linked |
Monosomy
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Turner syndrome (XO)
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Trisomy/tetrasomy,
other karyotypes/mosaics
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Klinefelter's syndrome (47,XXY) · 48,XXYY · 48,XXXY · 49,XXXYY · 49,XXXXY
Triple X syndrome (47,XXX) · 48,XXXX · 49,XXXXX
47,XYY · 48,XYYY · 49,XYYYY
46,XX/XY
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Translocations |
Leukemia/lymphoma
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Lymphoid
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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
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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
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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
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UpToDate Contents
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English Journal
- King TF1, Conway GS.
- Current opinion in endocrinology, diabetes, and obesity.Curr Opin Endocrinol Diabetes Obes.2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113.
- PURPOSE OF REVIEW: This review focuses on the pathogenesis, diagnosis, management and long-term outcomes of disorders of sex development, specifically women with Swyer syndrome (46,XY complete gonadal dysgenesis).RECENT FINDINGS: Recent discoveries have broadened our understanding of the complex pat
- PMID 25314337
- 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study.
- Rosa RF1, D'Ecclesiis WF2, Dibbi RP1, Rosa RC1, Trevisan P1, Graziadio C1, Paskulin GA1, Zen PR1.
- São Paulo medical journal = Revista paulista de medicina.Sao Paulo Med J.2014 Dec;132(6):332-8. Epub 2014 Sep 2.
- CONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism.DESIGN AND SETTING: A retrospective study in a referr
- PMID 25351753
- Crown heights in the permanent teeth of 45,X and 45,X/46,XX females.
- Pentinpuro RH1, Lähdesmäki RE, Niinimaa AO, Pesonen PR, Alvesalo LJ.
- Acta odontologica Scandinavica.Acta Odontol Scand.2014 Nov;72(8):908-16. doi: 10.3109/00016357.2014.921327. Epub 2014 Jun 2.
- Abstract Objective. Previous results regarding human sex chromosome aneuploidies have shown that the X and Y chromosomes affect tooth size and morphology. This study looked for the effect of sex chromosome deficiency on permanent tooth crown heights. Materials and methods. The material, from the Fin
- PMID 24882680
Japanese Journal
- 腹腔鏡下に性腺を摘出した性染色体異常 (モザイク) の2例
- 福原 健,万代 昌紀,三木 通保,藤原 浩,小西 郁生
- 日本産科婦人科内視鏡學會雜誌 = The journal of the Japan Endoscopy Society of Obstetrics and Gynecology 25(1), 272-276, 2009-09-01
- … Her external genitalia and vagina were normal, but chromosomal analysis showed mosaicism of 45X/46XY which comfirmed the diagnosis of mixed gonadal dysgenesis. …
- NAID 10026403517
Related Links
- Gonadal dysgenesisとは?goo Wikipedia (ウィキペディア) 。出典:Wikipedia(ウィキペディア)フリー百科事典。 Gonadal dysgenesisとは - goo Wikipedia (ウィキペディア) gooトップ サイトマップ スタートページに設定 RSS ヘルプ メール ...
- dysgenesis /dys·gen·e·sis/ (-jen´ĕ-sis) defective development; malformation. gonadal dysgenesis defective development of the gonads, which may be accompanied by abnormalities of the sex chromosomes; sometimes used ...
Related Pictures
★リンクテーブル★
[★]
- 英
- gonadal dysgenesis
- 同
- 性腺無形成 gonadal aplasia
- 同
- 性腺異常発生症
- 関
- 性腺形成不全、性器発育不全、性腺形成不全症
[★]
- 英
- gonadal dysgenesis
- 関
- 性器発育不全、性腺無形成、性腺形成異常症、性腺形成不全症
- 英
- gonadal dysgenesis
[★]
- 英
- gonadal dysgenesis
- 関
- 性腺形成不全、性腺形成異常症、性腺形成不全症
[★]
- 英
- gonadal dysgenesis
- 関
- 性腺形成不全、性器発育不全、性腺形成異常症
[★]
- 英
- gonadal dysgenesis
- 関
- 性腺異形成症
[★]
46、XY女性症候群、XY型性腺形成異常症
[★]
45
- 関
- Turner syndrome、Turner's syndrome
[★]
46、XX型性腺形成異常症
[★]
XX型純粋性腺形成異常症
[★]
完全型性腺異形成症
[★]
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
[★]
- 関
- genital gland、gonad、gonad gland
[★]
- 関
- gonadal