20 一名新生兒外生殖器有性器混淆(ambiguous genitalia)現象,染色體為 46,XX。最不可能的診斷為:
(A)21-hydroxylase deficiency
(B)17α-hydroxylase deficiency
(C)aromatase deficiency
(D)ovotesticular disorders of sex development

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統計: A(10), B(38), C(11), D(6), E(0) #1054955

詳解 (共 2 筆)

#1411478
B) 17α-hydroxylase deficiency 不能合成androgen
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#6270219

46 XY disorder of sexual development

46 XX disorder of sexual development

外表女性androgen不足

外表男性androgen過多

17β-hydroxysteroid dehydrogenase deficiency

17α-hydroxylase deficiency

5α-Reductase Deficiency

SRY基因突變或缺損

congenital adrenal hyperplasia(最常見)

aromatase基因突變或缺損

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