Agnethe Berglund, Trine H. Johannsen, Kirstine Stochholm, Mette H. Viuff, Jens Fedder, Katharina M. Main, Claus H. The prevalence of phenotypic females with a 46,XY karyotype is low, thus current knowledge about age and clinical presentation at diagnosis is sparse even for the most frequent conditions, androgen insensitivity syndrome AIS , and gonadal dysgenesis.
46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review
46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Orphanet doesn't provide personalised answers.
Metrics details. The clinical manifestations and genetic variants of all the patients were evaluated. Hypospadias was the most prevalent phenotype among our 10 cases 8 out of 10 cases and in all the previously reported ones. Central precocious puberty and isolated micropenis were observed for the first time. Among the 10 cases, nine variants were identified, including three nonsense p.
Try out PMC Labs and tell us what you think. Learn More. The patients generally have normal external genitalia and discover their pathology in adulthood because of infertility.