KEGG DISEASE: 46,XX 精巣性分化疾患

DISEASE: 46,XX 精巣性分化疾患

エントリ

H00598

名称

46,XX 精巣性分化疾患

下位グループ

SERKAL 症候群 [DS:H02317]
皮膚有棘細胞癌と性逆転を伴う掌蹠角化症 (PPK-SCC) [DS:H02318]

概要

46,XX disorder of sex development (46,XX DSD) is a condition in which the individual shows ambiguous genitalia with a 46,XX karyotype. Formerly, 46,XX DSD was also known as XX sex reversal (SRXX) or female pseudohermaphroditism. Testicular DSD patients, who have testicular tissue in the absence of an ovarian tissue, are phenotypically normal males.

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
    H00598  46,XX 精巣性分化疾患

病因遺伝子

(SRXX1) SRY [HSA:6736] [KO:K09266]
(SRXX2) SOX9 [HSA:6662] [KO:K18435]
(SRXX3) SOX3 [HSA:6658] [KO:K09267]
(SRXX4) NR5A1 [HSA:2516] [KO:K08560]
(SRXX5) NR2F2 [HSA:7026] [KO:K08548]

リンク

ICD-11:

LD2A.Y

MeSH:

D058531

OMIM:

400045 278850 300833 617480 618901

文献

PMID:20688619

著者

Kousta E, Papathanasiou A, Skordis N

タイトル

Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals.

雑誌

Hormones (Athens) 9:218-131 (2010)
DOI:10.14310/horm.2002.1272

文献

PMID:23065160

著者

Moshiri M, Chapman T, Fechner PY, Dubinsky TJ, Shnorhavorian M, Osman S, Bhargava P, Katz DS

タイトル

Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis.

雑誌

Radiographics 32:1599-618 (2012)
DOI:10.1148/rg.326125507

文献

PMID:11750731 (SRXX1)

著者

Zenteno-Ruiz JC, Kofman-Alfaro S, Mendez JP

タイトル

46,XX sex reversal.

雑誌

Arch Med Res 32:559-66 (2001)
DOI:10.1016/S0188-4409(01)00322-8

文献

PMID:21208124 (SRXX2)

著者

Cox JJ, Willatt L, Homfray T, Woods CG

タイトル

A SOX9 duplication and familial 46,XX developmental testicular disorder.

雑誌

N Engl J Med 364:91-3 (2011)
DOI:10.1056/NEJMc1010311

文献

PMID:21183788 (SRXX3)

著者

Sutton E, Hughes J, White S, Sekido R, Tan J, Arboleda V, Rogers N, Knower K, Rowley L, Eyre H, Rizzoti K, McAninch D, Goncalves J, Slee J, Turbitt E, Bruno D, Bengtsson H, Harley V, Vilain E, Sinclair A, Lovell-Badge R, Thomas P

タイトル

Identification of SOX3 as an XX male sex reversal gene in mice and humans.

雑誌

J Clin Invest 121:328-41 (2011)
DOI:10.1172/JCI42580

文献

PMID:27490115 (SRXX4)

著者

Baetens D, Stoop H, Peelman F, Todeschini AL, Rosseel T, Coppieters F, Veitia RA, Looijenga LH, De Baere E, Cools M

タイトル

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

雑誌

Genet Med 19:367-376 (2017)
DOI:10.1038/gim.2016.118

文献

PMID:29478779 (SRXX5)

著者

Bashamboo A, Eozenou C, Jorgensen A, Bignon-Topalovic J, Siffroi JP, Hyon C, Tar A, Nagy P, Solyom J, Halasz Z, Paye-Jaouen A, Lambert S, Rodriguez-Buritica D, Bertalan R, Martinerie L, Rajpert-De Meyts E, Achermann JC, McElreavey K

タイトル

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.

雑誌

Am J Hum Genet 102:487-493 (2018)
DOI:10.1016/j.ajhg.2018.01.021

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