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A case of 46,XX 17-α hydroxylase deficiency with malignant germ tumor of gonad
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- Author:
- No author available
- Journal Title:
- Chinese Journal of Obstetrics and Gynecology
- Issue:
- 4
- DOI:
- 10.3760/cma.j.cn112141-20220907-00568
- Key Word:
- No keyword available
Abstract： 17α-羟化酶缺乏症是由CYP17A1基因突变导致皮质醇和性激素合成障碍的一种常染色体隐性遗传性疾病，以高血压、低血钾、性发育异常为典型临床特征。46，XY的17-OHD患者因存在发生恶性生殖细胞肿瘤的风险，建议切除发育不全的性腺，而46，XX的17-OHD患者则认为无需手术。本文报道国内1例46，XX 17-OHD、SRY基因阴性患者发生性腺恶性肿瘤，并结合文献进行进一步探讨，以期提高临床医师对46，XX的17-OHD患者性腺发生肿瘤风险的关注。针对46，XX 17-OHD患者，即使其SRY基因检测阴性，仍需密切随访，如发现逐渐增大的盆腔包块，需考虑发生性腺肿瘤的可能，及时进行手术探查。
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