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• W4308549962 abstract "46,XX male sex reversal syndrome is a rare genetic cause of male infertility. We report on two new cases of this syndrome in men presenting with hypogonadism and infertility. Cytogenetic and molecular analysis was performed in both patients. An extensive review of the literature for 46,XX male sex reversal syndrome cases related to infertility was also performed to fully characterise this syndrome. Genetic analyses showed translocation of the SRY on Xp chromosome and complete absence of all Azoospermia factor (AZF) genetic regions. All patients included in the review presented hypergonadotropic hypogonadism. Small testes were the most common clinical characteristic present in 90.2% of the patients, followed by small penis (31.8%), gynecomastia (26.8%) and poor hair distribution (15.4%). The presence of the SRY was identified in 130/154 (84.4%) patients: in 98.5% of cases, it was translocated on the Xp chromosome and in 1.5% on an autosome. All patients were azoospermic, due to the lack of AZF genetic regions. Males with normal phenotype and primary hypogonadism should be properly evaluated by the physicians and must be referred for cytogenetic and molecular analysis to exclude or confirm 46,XX male sex reversal syndrome. More cases of this syndrome with SRY translocated on an autosome are needed to identify if these patients have different characteristics than those with SRY translocated on Xp chromosome. Whole genome analysis of these patients is required to elucidate the genetic differences which are responsible for the phenotypic variability of the syndrome." @default.
• W4308549962 created "2022-11-12" @default.
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• W4308549962 date "2022-01-01" @default.
• W4308549962 modified "2023-10-14" @default.
• W4308549962 title "A 46,XX karyotype in men with infertility: Two new cases and review of the literature" @default.
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• W4308549962 cites W180322969 @default.
• W4308549962 cites W1919986685 @default.
• W4308549962 cites W1928289634 @default.
• W4308549962 cites W1946090066 @default.
• W4308549962 cites W1964231721 @default.
• W4308549962 cites W1972396267 @default.
• W4308549962 cites W1980176479 @default.
• W4308549962 cites W1980333969 @default.
• W4308549962 cites W1980419037 @default.
• W4308549962 cites W1985495532 @default.
• W4308549962 cites W1987667706 @default.
• W4308549962 cites W1991663951 @default.
• W4308549962 cites W1996159285 @default.
• W4308549962 cites W1999757628 @default.
• W4308549962 cites W2010032314 @default.
• W4308549962 cites W2013246689 @default.
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• W4308549962 cites W2021772033 @default.
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• W4308549962 cites W2069277865 @default.
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• W4308549962 cites W2080157024 @default.
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• W4308549962 cites W2095430709 @default.
• W4308549962 cites W2096273247 @default.
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• W4308549962 doi "https://doi.org/10.4103/jhrs.jhrs_100_22" @default.
• W4308549962 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36341017" @default.
• W4308549962 hasPublicationYear "2022" @default.
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