ArticleInternational braz j urol : official journal of the Brazilian Society of Urology
Ten cases with 46,XX testicular disorder of sex development: single center experience.
Article in International braz j urol : official journal of the Brazilian Society of Urology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Gonadal Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD.The Journal of clinical endocrinology and metabolism · 2026Article
- A Novel Approach Using Microarray Testing as a Screening Method with Clinical Validation Using Whole-Genome Sequencing and Karyotyping for Identifying 46,XX Testicular Differences of Sex Development.Diagnostics (Basel, Switzerland) · 2026Article
- Sex Reversal Syndrome (SRS): A Case of SRY-Positive 46,XX Testicular Disorder.Journal of the ASEAN Federation of Endocrine Societies · 2023Article
- An azoospermic male with a novel chromosome 46, XX, der(15)t(Y; 15)(p11.3; p12).Clinical case reports · 2022Article
- The genetic causes of male infertility: a Middle East and North Africa perspective.F1000Research · 2022Review
- Article
- Possible misdiagnosis of 46,XX testicular disorders of sex development in infertile males.International journal of medical sciences · 2020Article
- A Rare Differences of Sex Development: Male Sex Reversal Syndrome (NonSyndromic 46, XX with Negative Sex-Determining Region of Y Chromosome Gene).Journal of Indian Association of Pediatric SurgeonsArticle
- A 46,XX Karyotype in Men with Infertility: Two New Cases and Review of the Literature.Journal of human reproductive sciencesArticle
- 46XX Testicular Disorder of Sex Development.Journal of human reproductive sciencesArticle
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5 authors.
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Abstract
objectiveTo present clinical, chromosomal and hormonal features of ten cases with SRY-positive 46,XX testicular disorder of sex development who were admitted to our infertility clinic. CASES AND
methodsRecords of the cases who were admitted to our infertility clinic between 2004 and 2015 were investigated. Ten 46,XX testicular disorder of sex development cases were detected. Clinical, hormonal and chromosomal assessments were analized.
resultsMean age at diagnosis was 30.4, mean body height was 166.9cm. Hormonal data indicated that the patients had a higher FSH, LH levels, lower TT level and normal E2, PRL levels. Karyotype analysis of all patients confirmed 46,XX karyotype, and FISH analysis showed that SRY gene was positive and translocated to Xp. The AZFa, AZFb and AZFc regions were absent in 8 cases. In one case AZFb and AZFc incomplete deletion and normal AZFa region was present. In the other one all AZF regions were present.
conclusionGonadal development disorders such as SRY-positive 46,XX testicular disorder of sex development can be diagnosed in infertility clinics during infertility workup. Although these cases had no chance of bearing a child, they should be protected from negative effects of testosterone deficiency by replacement therapies.
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