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Condition report · Sexual Health

46,XX Differences of Sex Development

Rare conditions in which people with XX chromosomes develop testes or both ovarian and testicular tissue, often first identified through male infertility.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

46,XX differences of sex development

XX testicular difference of sex development affects about 1 in 20,000 males.

Conditions including XX testicular and ovotesticular differences of sex development, most often caused by a translocated SRY gene or changes at SOX9 or SOX3, and less often by variants in NR5A1, RSPO1 or WNT4.

What a diagnosis changes

Diagnosis explains azoospermia, informs hormone management, and in RSPO1-related disease prompts skin cancer surveillance.

Genes analysed

Also known as

46,XX disorders of Sex development; 46,XX DSD; female pseudohermaphroditism

Includes 10 related subtypes ↓
  • 46,XX disorder of sex development-anorectal anomalies syndrome
  • 46,XX disorder of sex development-skeletal anomalies syndrome
  • 46,XX sex reversal 1
  • 46,XX sex reversal 2
  • 46,XX sex reversal 3
  • 46,XX sex reversal 4
  • 46,XX testicular disorder of sex development
  • 46,XX true hermaphroditism, SRY-positive
  • Michels Caskey syndrome
  • palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
MONDO:0017576Orphanet 2982MedGen 424728

Limitations

  • Most cases are caused by structural changes such as SRY translocated onto another chromosome or duplications near SOX9 or SOX3. These require Y-chromosome read detection and copy-number or structural variant analysis, so many cases will not be detected by variant calling alone.

Other sexual health conditions

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