混合型性腺發育不良包含了數種不同形式的性染色體組合，其特徵是表現在性腺及外表異常。通常是有一側睪丸，而在對側是細小或消失的性腺。除此以外，可以發現未退化的穆勒氏管遺跡和不同程度的外生殖器異常。這些病人的性染色體是XO及XY混合，而且有很高的機率會造成生殖細胞腫瘤。在此，我們提出一個混合型性腺發育不良的病例，並做文獻回顧。

Mixed gonadal dysgenesis includes a heterogenous group of different chromosomal, gonadal and phenotypic abnormalities characterized by the presence of a testis on one side and a streak or absent gonad on the other, persistence of Mullerian duct structures and a variable degree of genital ambiguity. These patients are chromatin negative and exhibit XO/XY mosaicism with a high incidence of gonadal neoplastic transformation. Herein, a case of mixed gonadal digenesis is presented, and the literature is reviewed.