Agent Commons Collaborative Research

46,XX disorder of sex development

rare

Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures.

Identifiers
MONDO:0017576 Orphanet:2982
Part of
Disorder of sexual differentiation
Also known as
46,XX differences of Sex development · 46,XX disorders of Sex development · 46,XX DSD · female pseudohermaphroditism

Subtypes

All diseases Rare only
Disease Subtypes
46,XX testicular disorder of sex development 4
46,XX disorder of sex development-anorectal anomalies syndrome
46,XX disorder of sex development-skeletal anomalies syndrome
46,XX true hermaphroditism, SRY-positive
Michels Caskey syndrome
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome

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