List of Variations/DSDs

VARIATIONS:

Chromosomal anomaly

• Turner’s Syndrome
  • Male Turner’s (X0/XY)
  • Turner syndrome (X0 complete gonadal dysgenesis)
  • Mosaic Turner’s (X0/XX)
• Klinefelter’s Syndrome
  • XXY
  • XXXY
  • XXYY
  • Mosaic klinefelter’s (primarily KS presentation)

• Trisomy X (XXX) Syndrome (mosaic or full)
• Jacob’s (XYY) Syndrome (mosaic or full)
• Mosaic chromosomes (primarily mosaic presentation)
• X/XY (mosaic Y loss/mixed gonadal dysgenesis)
• X/XX/XY
• XY/XXY
• XX/XXY
• X/XX/XXY
• X/XY/XXY
• X/XY/XX/XXY
• X/XX/XXY/XXX
• XX/XY (chimeric)
• XX/XY (mosaic)
• Mosaicism not otherwise specified
• Chromosomal Translocation
• Chromosomal Fragmentation
• Chromosomal Inversion
• Other chromosomal anomaly

Hormone, receptor, enzyme deficiency/mutation

• CAH types
• XX 11 β hydroxylase CAH
• XX 21 hydroxylase CAH
• XY partial 17 hydroxylase deficiency CAH
• XY StAR deficiency CAH
• Complete 17 hydroxylase deficiency CAH
• Lipoid CAH
• NCAH

• Inborn errors of steroid metabolism
• XY 17-β-hydroxysteroid dehydrogenase III deficiency
• XY Cytochrome b5 deficiency
• p450 oxidoreductase deficiency
• Combined 17 alpha hydroxylase/17,20-lyase deficiency
• Isolated 17,20-lyase deficiency
• 3-β-hydroxysteroid dehydrogenase deficiency
• Other
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• Aromatase excess syndrome
• Aromatase deficiency syndrome</ul>
  • Androgen insensitivity
  • CAIS/ICAIS
  • PAIS
  • MAIS
  • Estrogen insensitivity
  • Complete
  • Partial
  • 5-alpha reductase deficiency
  • Persistent Mullerian Duct Syndrome (PMDS)
  • Kallmann’s Syndrome
  • Smith-Lemli-Opitz Syndrome
  • Hypogonadotropic hypogonadism

  Sex determinant gene mutation

  • De La Chapelle syndrome (XX positive SRY)
  • Other XX testicular DSD (SOX3, other sex reversal)
  • XX OTDSD (SOX8 mutation, other)
  • Swyer Syndrome (XY negative SRY)
  • Type I (XY OTDSD)
  • Type II (XY complete gonadal dysgenesis)
  • SRY fragmentation
  • MRKH
  • XX gonadal dysgenesis
  • Mixed
  • Complete
  • XY gonadal dysgenesis
  • XX Agonadism
  • XY anorchia
  • XY Campomelic Dysplasia
  • XX vaginal atresia/dysgenesis
  • XY Leydig Cell Hypoplasia
  • Mild or moderate
  • Severe
  • XY GATA4 mutation
  • Steroidogenic Factor 1 Mutation (SF1/NR5A1)
  • Idiopathic DSD

  Non genetic causes of DSD

  • Chemical exposure
  • Teratogen exposure
  • Progestin induced virilization
  • Androgen induced virilization