46 XX karyotype during male fertility evaluation; case series and literature review
46 XX karyotype during male fertility evaluation;case series and literature review作者机构：Cleveland Clinic Foundation Department of Urology Cleveland Ohio USA Hamad Medical Corporation Department of Urology Qatar Cairo University Department of Andrology Giza Egypt Reston Hospital Department of Urology Virginia USA
出 版 物：《Asian Journal of Andrology》 (亚洲男性学杂志（英文版）)
年 卷 期：2017年第19卷第2期
页 面：168-172页
核心收录：
学科分类：10[医学]
主 题：hypogonadism infertility male sex-determining region XX disorders of sex development
摘 要：Forty-six XX disorder of sex development is an uncommon medical condition observed at times during the evaluation of a man＇s fertility. The following is a case series and literature review of phenotypically normal men diagnosed with this karyotype. Our goal is to comprehend the patients＇ clinical presentation as well as their laboratory results aiming to explore options available for their management. A formal literature review through PubMed and MEDLINE databases was performed using ＂46 XX man＂ as a word search. A total of 55 patients, including those conveyed in this article were diagnosed with a 46 XX karyotype during their fertility evaluation. The patients＇ mean age _＋ s.d. was 34 ＋ 10 years and their mean height ＋ s.d. was 166 ＋ 6.5 cm. Overall, they presented with hypergonadotropic hypogonadism. Sexual dysfunction, reduced hair distribution, and gynecomastia were reported in 20% （4120）, 25.8% （8/31）, and 42% （13131） of the patients, respectively. The SRYgene was detected in 36 （83.7%） and was absent in the remaining seven （16.3%） patients. We found that a multidisciplinary approach to management is preferred in 46 XX patients. Screening for remnants of the mullerian ducts and for malignant transformation in dysgenetic gonads is imperative. Hypogonadism should be addressed, while fertility options are in vitro fertilization with donor sperm or adoption.
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