46,XX male disorder of sexual development

DOI Web Site 参考文献5件
  • Adrião Mariana
    Department of Pediatrics, Centro Hospitalar Universitário de São João, Porto, Portugal
  • Ferreira Sofia
    Department of Pediatrics, Centro Hospitalar Universitário de São João, Porto, Portugal Pediatric Endocrinology’s Unit, Department of Pediatrics, Centro Hospitalar Universitário de São João, Porto, Portugal
  • Silva Rita Santos
    Department of Pediatrics, Centro Hospitalar Universitário de São João, Porto, Portugal Pediatric Endocrinology’s Unit, Department of Pediatrics, Centro Hospitalar Universitário de São João, Porto, Portugal
  • Garcia Maria
    Department of Pediatrics Surgery, Centro Hospitalar Universitário de São João, Porto, Portugal
  • Dória Sofia
    Department of Genetics, Faculty of Medicine, University of Porto, Centro Hospitalar Universitário de São João, Porto, Portugal
  • Costa Carla
    Department of Pediatrics, Centro Hospitalar Universitário de São João, Porto, Portugal Pediatric Endocrinology’s Unit, Department of Pediatrics, Centro Hospitalar Universitário de São João, Porto, Portugal
  • Castro-Correia Cíntia
    Department of Pediatrics, Centro Hospitalar Universitário de São João, Porto, Portugal Pediatric Endocrinology’s Unit, Department of Pediatrics, Centro Hospitalar Universitário de São João, Porto, Portugal
  • Fontoura Manuel
    Department of Pediatrics, Centro Hospitalar Universitário de São João, Porto, Portugal Pediatric Endocrinology’s Unit, Department of Pediatrics, Centro Hospitalar Universitário de São João, Porto, Portugal

この論文をさがす

抄録

<p>An individual’s sexual phenotype is usually determined by the presence or absence of the Y chromosome in the embryo’s karyotype, however, due to abnormal X/Y terminal exchange through male meiosis, a few individuals develop male genitalia in the absence of the Y chromosome. This case report presents an adolescent referred to the Pediatric Endocrinology Unit due to bilateral gynecomastia. A diagnosis of hypergonadotropic hypogonadism was established and chromosomal analysis disclosed 46,XX karyotype, with the SRY gene locus found on one of his X chromosomes. A multidisciplinary approach, including psychological support and genetic counseling, is ideal for the management of these patients. Neoplastic transformation of the dysgenetic gonads has been described in several cases, and hence self-examinations and regular ultrasounds are commonly advised.</p>

収録刊行物

参考文献 (5)*注記

もっと見る

キーワード

詳細情報 詳細情報について

問題の指摘

ページトップへ