A rare case of ambiguous genitalia

Sheau Fang Ng, N. Y. Boo, Loo Ling Wu, Salwati Shuib

Research output: Contribution to journalArticle

6 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)858-861
Number of pages4
JournalSingapore Medical Journal
Volume48
Issue number9
Publication statusPublished - Sep 2007

Fingerprint

Y-Linked Genes
Male Genitalia
Klinefelter Syndrome
Disorders of Sex Development
X-Linked Genes
Sex Differentiation
Seminiferous Tubules
Genitalia
Hypogonadism
X Chromosome
Karyotype
Testis
Radioulnar Synostosis

Keywords

  • 49,XXXXY syndrome
  • Ambiguous genitalia
  • Facial dysmorphism
  • Male genitalia
  • Radioulnar synostosis

ASJC Scopus subject areas

  • Medicine(all)

Cite this

A rare case of ambiguous genitalia. / Ng, Sheau Fang; Boo, N. Y.; Wu, Loo Ling; Shuib, Salwati.

In: Singapore Medical Journal, Vol. 48, No. 9, 09.2007, p. 858-861.

Research output: Contribution to journalArticle

Ng, SF, Boo, NY, Wu, LL & Shuib, S 2007, 'A rare case of ambiguous genitalia', Singapore Medical Journal, vol. 48, no. 9, pp. 858-861.
Ng, Sheau Fang ; Boo, N. Y. ; Wu, Loo Ling ; Shuib, Salwati. / A rare case of ambiguous genitalia. In: Singapore Medical Journal. 2007 ; Vol. 48, No. 9. pp. 858-861.
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