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A rare case of ambiguous genitalia.

Abstract

Genes on the Y chromosome are essential for normal sex determination and sex differentiation of male genitalia. However, genes on the X chromosome and other autosomes have been shown to be anti-testes and have a detrimental effect on this process. Addition of X chromosomes to the 46,XY karyotype results in seminiferous tubules dysgenesis, hypogonadism and malformed genitalia. We report a term male newborn with 49,XXXXY syndrome presenting with ambiguous genitalia, multiple extra-gonadal anomalies, facial dysmorphism, and radioulnar synostosis.

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  • Authors+Show Affiliations

    ,

    Department of Paediatrics, Universiti Kebangsaan Malaysia, Jalan Tenteram, Bandar Tun Razak, Cheras, Kuala Lumpur, Malaysia. sfng_2001@yahoo.com

    , ,

    Source

    Singapore medical journal 48:9 2007 Sep pg 858-61

    MeSH

    Abnormalities, Multiple
    Aneuploidy
    Chromosomes, Human, X
    Genital Diseases, Male
    Humans
    Infant, Newborn
    Male
    Sex Chromosome Disorders

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    17728969

    Citation

    Ng, S F., et al. "A Rare Case of Ambiguous Genitalia." Singapore Medical Journal, vol. 48, no. 9, 2007, pp. 858-61.
    Ng SF, Boo NY, Wu LL, et al. A rare case of ambiguous genitalia. Singapore Med J. 2007;48(9):858-61.
    Ng, S. F., Boo, N. Y., Wu, L. L., & Shuib, S. (2007). A rare case of ambiguous genitalia. Singapore Medical Journal, 48(9), pp. 858-61.
    Ng SF, et al. A Rare Case of Ambiguous Genitalia. Singapore Med J. 2007;48(9):858-61. PubMed PMID: 17728969.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - A rare case of ambiguous genitalia. AU - Ng,S F, AU - Boo,N Y, AU - Wu,L L, AU - Shuib,S, PY - 2007/8/31/pubmed PY - 2007/11/9/medline PY - 2007/8/31/entrez SP - 858 EP - 61 JF - Singapore medical journal JO - Singapore Med J VL - 48 IS - 9 N2 - Genes on the Y chromosome are essential for normal sex determination and sex differentiation of male genitalia. However, genes on the X chromosome and other autosomes have been shown to be anti-testes and have a detrimental effect on this process. Addition of X chromosomes to the 46,XY karyotype results in seminiferous tubules dysgenesis, hypogonadism and malformed genitalia. We report a term male newborn with 49,XXXXY syndrome presenting with ambiguous genitalia, multiple extra-gonadal anomalies, facial dysmorphism, and radioulnar synostosis. SN - 0037-5675 UR - https://www.unboundmedicine.com/medline/citation/17728969/A_rare_case_of_ambiguous_genitalia_ L2 - http://smj.sma.org.sg/4809/4809cr9.pdf DB - PRIME DP - Unbound Medicine ER -