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核型为46，XY的女性。

Female with 46, XY karyotype.

作者信息

Jung Eun Jung, Im Do Hwa, Park Yong Hee, Byun Jung Mi, Kim Young Nam, Jeong Dae Hoon, Sung Moon Su, Kim Ki Tae, An Hyo Jung, Jung Soo Jin, Lee Kyung Bok

机构信息

Department of Obstetrics and Gynecology, Inje University Busan Paik Hospital, Busan, Korea.

Paik Institute for Clinical Research, Inje University Busan Paik Hospital, Busan, Korea.

出版信息

Obstet Gynecol Sci. 2017 Jul;60(4):378-382. doi: 10.5468/ogs.2017.60.4.378. Epub 2017 Jul 14.

DOI:10.5468/ogs.2017.60.4.378
PMID:28791271
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5547087/
Abstract

Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders of androgen synthesis/action. Prophylactic gonadectomy should be considered in patients with 46, XY DSD because of the increased risk of gonadal malignancy. We report two rare cases of 46, XY DSD, including XY pure gonadal dysgenesis and complete androgen insensitivity syndrome, who underwent a prophylactic gonadectomy.

摘要

性发育障碍（DSD）是一种先天性疾病，其特征为染色体、性腺及表型性别的发育异常。46，XY DSD可由睾丸发育障碍或雄激素合成/作用障碍引起。由于性腺恶性肿瘤风险增加，对于46，XY DSD患者应考虑预防性性腺切除术。我们报告了两例罕见的46，XY DSD病例，包括XY单纯性腺发育不全和完全性雄激素不敏感综合征，这两名患者均接受了预防性性腺切除术。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0da1/5547087/e8e3bc12763b/ogs-60-378-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0da1/5547087/93a98a23f2a8/ogs-60-378-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0da1/5547087/e8e3bc12763b/ogs-60-378-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0da1/5547087/93a98a23f2a8/ogs-60-378-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0da1/5547087/e8e3bc12763b/ogs-60-378-g002.jpg

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Challenges in the Diagnosis of XY Differences of Sexual Development.性发育 XY 差异诊断中的挑战。

本文引用的文献

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Clin Endocrinol (Oxf). 2012 Jun;76(6):894-8. doi: 10.1111/j.1365-2265.2012.04330.x.
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The XY female.性染色体为 XX 的女性。
Best Pract Res Clin Obstet Gynaecol. 2010 Apr;24(2):139-48. doi: 10.1016/j.bpobgyn.2009.09.009. Epub 2009 Nov 6.
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Care of women with XY karyotype: a clinical practice guideline.女性性染色体核型为 XY 的护理：临床实践指南。
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Ital J Pediatr. 2022 Mar 24;48(1):47. doi: 10.1186/s13052-022-01243-4.
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