46,XY partial gonadal dysgenesis

Orpha code: 251510OMIM code: 615542

Definition

A rare disorder/difference of sex development (DSD) characterized by atypical gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a 46,XY karyotype.

Disease data
Classification

Malformation syndrome

Synonyms
46,XY PGD
46,XY PGD
Częściowa dysgenezja jąder z kariotypem 46,XY
46,XY partial testicular dysgenesis
ORPHA code
251510
OMIM code
615542
ICD10 code
Q56.1
ICD11 code
-

No additional description.

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