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. 2010 Apr;24(2):335–354. doi: 10.1016/j.beem.2010.01.006

Table 4.

Overview of the Great Ormond Street Hospital DSD meeting over approximately two years.

Sex Chromosome DSD (n = 13) 46,XY DSD (n = 65) 46,XX DSD (n = 23)
A: 47,XXY (Klinefelter Syndrome & variants) (2)
B: 45,X (Turner Syndrome & variants) (2)(both Y fragment)
C: 45,X/46,XY mosaicism (mixed gonadal dysgenesis & variants) (8)
D: 46,XX/46,XY (chimerism/mosaicism) (1) 		A: Disorders of gonadal (testis) development
  • 1.

    Complete gonadal dysgenesis (7)

  • 2.

    Partial gonadal dysgenesis (8)

  • 3.

    Steroidogenic factor-1 (2)

 A: Disorders of gonadal (ovary) development
  • 1.

    Ovotesticular DSD (1)

  • 2.

    Testicular DSD (1)
B: Disorders in androgen synthesis or action
  • 1.

    Disorders of androgen biosynthesis

  • STAR (1)

  • 17β-HSD III (2)

  • 5α-reductase II (6)

  • 2.

    Disorders of androgen action

  • CAIS (6)

  • “PAIS” (5)

 B: Androgen excess
  • 1.

    Fetal

  • 21-hydroxylase (8)

  • 11β-hydroxylase (2)

  • 2.

    Fetoplacental

  • 3.

    Maternal
C: Other
  • 1.

    Syndromic associations of male genital development (11) (e.g. chromosomal variants, skeletal, lung, skin, gastrointestinal, Cornelia de Lange, CHARGE)

  • 2.

    Cloacal anomalies (1)

  • 3.

    IUGR/preterm/hypospadias (4)

  • 4.

    Persistent Müllerian duct syndrome (3)

  • 5.

    Vanishing testis syndrome (2)

  • 6.

    Isolated severe hypospadias (4)

  • 7.

    Micropenis (1)

  • 8.

    Bilateral undescended testes (2)

 C: Other
  • 1.

    Syndromic associations (e.g. cloacal anomalies) (1)

  • 2.

    Müllerian agenesis (1)

  • 3.

    Clitoromegaly, possible clitoromegaly or clitoral variants (8)

  • 4.

    Ovarian cysts (1)

Figures in bold (parentheses) show the current working diagnosis for individual cases seen or discussed during the DSD clinic over a 26 month period (24 multidisciplinary meetings). A total of 101 different cases were discussed and, in addition, 42 repeat discussions, reviews or updates took place. Therefore, 143 cases were considered during this time period (average: approximately 6 discussions per meeting). One case needed detailed input from ethicists. Of note, most cases of milder CAH or severe penoscrotal hypopadias were managed by the urology/endocrinology/psychology teams without referral to the joint MDT meeting.