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Start free with Eleplan46,XY complete gonadal dysgenesis
ORPHA:242Malformation syndrome
Also called 46,XY CGD · 46,XY pure gonadal dysgenesis · Swyer syndrome
What it is
A rare disorder/difference of sex development (DSD) associated with absence in gonadal development that results in the presence of female appearing external and internal genitalia in presence of a 46,XY karyotype.
Key facts
- Age of onset
- Adolescent, Adult
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive, Y-linked
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
4- Hypogonadotropic hypogonadism
- Male pseudohermaphroditism
- Polycystic ovaries
- Testicular dysgenesis
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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