46,XX testicular disorder of sex development

Orpha code: 393OMIM code: 400045

Definition

A rare disorder of sex development (DSD) associated with a 46, XX karyotype and characterized by male external genitalia, ranging from normal to atypical with associated testosterone deficiency.

Disease data
Classification

Malformation syndrome

Synonyms
46,XX testicular DSD
XX, mężczyzna
Zespół De la Chapelle
De la Chapelle syndrome
XX, male syndrome
ORPHA code
393
OMIM code
400045
ICD10 code
Q99.1
ICD11 code
-

No additional description.

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