KEGG DISEASE: 46,XY 性腺形成不全症

DISEASE: 46,XY 性腺形成不全症

エントリ

H00607

名称

46,XY 性腺形成不全症

下位グループ

屈曲肢異形成 [DS:H00442]
Frasier 症候群 (FS)
Denys-Drash 症候群 (DDS)

概要

Gonadal dysgenesis (GD) is a disorder of sex development. Formerly, 46,XY GD was also known as 46,XY sex reversal (SRXY). In 46,XY GD, the gonadal histology can range from fibrous streak gonads to partial GD with presence of testicular tissue. The phenotype of patients with 46,XY GD can vary from normal female to genital ambiguity to an undervirilized male. Mutations involving the testis-determining gene SRY, and other genes involved in sex determination, such as the genes WT1, DHH, NR5A1, SOX9, FOG2/ZFPM2 and MAP3K1 have been identified.

カテゴリ

生殖器系疾患

階層分類

ICD-11 による疾患分類 [BR:jp08403]
20 発達異常
  多発性の発達異常または症候群
   LD2A  性分化の奇形疾患
    H00607  46,XY 性腺形成不全症
パスウェイに基づく疾患分類 [BR:jp08402]
脂質･糖脂質代謝
  nt06019  ステロイドホルモンの生合成
   H00607  46,XY 性腺形成不全症

パスウェイ

hsa04927

Cortisol synthesis and secretion

hsa00140

Steroid hormone biosynthesis

ネットワーク

nt06019 Steroid hormone biosynthesis

病因遺伝子

(SRXY1) SRY [HSA:6736] [KO:K09266]
(SRXY2) NR0B1 [HSA:190] [KO:K08562]
(SRXY3) NR5A1 [HSA:2516] [KO:K08560]
(SRXY5) CBX2 [HSA:84733] [KO:K11451]
(SRXY6) MAP3K1 [HSA:4214] [KO:K04416]
(SRXY7) DHH [HSA:50846] [KO:K11990]
(SRXY8) AKR1C2 [HSA:1646] [KO:K00089]
(SRXY8) AKR1C4 [HSA:1109] [KO:K00037]
(SRXY9) ZFPM2 [HSA:23414] [KO:K17442]
(SRXY11) DHX37 [HSA:57647] [KO:K14780]
(FS/DDS) WT1 [HSA:7490] [KO:K09234]

リンク

ICD-11:

LD2A.1

ICD-10:

Q99.1

MeSH:

D006061

OMIM:

400044 300018 612965 613080 613762 233420 607080 614279 616067 273250 136680 194080

文献

PMID:18279784

著者

Hughes IA

タイトル

Disorders of sex development: a new definition and classification.

雑誌

Best Pract Res Clin Endocrinol Metab 22:119-34 (2008)
DOI:10.1016/j.beem.2007.11.001

文献

PMID:25813279

著者

Bastian C, Muller JB, Lortat-Jacob S, Nihoul-Fekete C, Bignon-Topalovic J, McElreavey K, Bashamboo A, Brauner R

タイトル

Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis.

雑誌

Fertil Steril 103:1297-304 (2015)
DOI:10.1016/j.fertnstert.2015.01.043

文献

PMID:31745530 (SRXY1_2_7_11)

著者

Buonocore F, Clifford-Mobley O, King TFJ, Striglioni N, Man E, Suntharalingham JP, Del Valle I, Lin L, Lagos CF, Rumsby G, Conway GS, Achermann JC

タイトル

Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD.

雑誌

J Endocr Soc 3:2341-2360 (2019)
DOI:10.1210/js.2019-00306

文献

PMID:17503084 (SRXY2)

著者

Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, Lupski JR, Cheung SW, Stankiewicz P

タイトル

Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).

雑誌

Hum Genet 122:63-70 (2007)
DOI:10.1007/s00439-007-0373-8

文献

PMID:23918653 (SRXY3)

著者

Harrison SM, Campbell IM, Keays M, Granberg CF, Villanueva C, Tannin G, Zinn AR, Castrillon DH, Shaw CA, Stankiewicz P, Baker LA

タイトル

Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.

雑誌

Am J Med Genet A 161A:2487-94 (2013)
DOI:10.1002/ajmg.a.36084

文献

PMID:19361780 (SRXY5)

著者

Biason-Lauber A, Konrad D, Meyer M, DeBeaufort C, Schoenle EJ

タイトル

Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.

雑誌

Am J Hum Genet 84:658-63 (2009)
DOI:10.1016/j.ajhg.2009.03.016

文献

PMID:21129722 (SRXY6)

著者

Pearlman A, Loke J, Le Caignec C, White S, Chin L, Friedman A, Warr N, Willan J, Brauer D, Farmer C, Brooks E, Oddoux C, Riley B, Shajahan S, Camerino G, Homfray T, Crosby AH, Couper J, David A, Greenfield A, Sinclair A, Ostrer H

タイトル

Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.

雑誌

Am J Hum Genet 87:898-904 (2010)
DOI:10.1016/j.ajhg.2010.11.003

文献

PMID:21802064 (SRXY8)

著者

Fluck CE, Meyer-Boni M, Pandey AV, Kempna P, Miller WL, Schoenle EJ, Biason-Lauber A

タイトル

Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation.

雑誌

Am J Hum Genet 89:201-18 (2011)
DOI:10.1016/j.ajhg.2011.06.009

文献

PMID:24549039 (SRXY9)

著者

Bashamboo A, Brauner R, Bignon-Topalovic J, Lortat-Jacob S, Karageorgou V, Lourenco D, Guffanti A, McElreavey K

タイトル

Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination.

雑誌

Hum Mol Genet 23:3657-65 (2014)
DOI:10.1093/hmg/ddu074

文献

PMID:9398852 (FS)

著者

Barbaux S, Niaudet P, Gubler MC, Grunfeld JP, Jaubert F, Kuttenn F, Fekete CN, Souleyreau-Therville N, Thibaud E, Fellous M, McElreavey K

タイトル

Donor splice-site mutations in WT1 are responsible for Frasier syndrome.

雑誌

Nat Genet 17:467-70 (1997)
DOI:10.1038/ng1297-467

文献

PMID:18203154 (DDS)

著者

Antonius T, van Bon B, Eggink A, van der Burgt I, Noordam K, van Heijst A

タイトル

Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097GA(Arg366His) mutation.

雑誌

Am J Med Genet A 146A:496-9 (2008)
DOI:10.1002/ajmg.a.32168

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