46,XY 性腺形成不全症

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

性腺形成不全症(GD) は、性分化疾患である。以前 46,XY GD は 46,XY 性転換 (SRXY) とも呼ばれた。46,XY GD における生殖腺の組織構造は、繊維線性腺から睾丸組織を持つ部分的な GD まで幅がある。また患者の表現型は、一般的な女性から性があいまいな仮性半陰陽まで様々である。精巣決定に関わる SRY 遺伝子や WT1, DHH, NR5A1, SOX9, FOG2/ZFPM2 および MAP3K1 等のその他の性決定に関わる遺伝子の変異が確認されている。

生殖系疾患

(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]
(CD) SOX9 [HSA:6662] [KO:K18435]
(FS/DDS) WT1 [HSA:7490] [KO:K09234]

PMID:18279784

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