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Start free with Eleplan46,XX gonadal dysgenesis
ORPHA:243Malformation syndrome
Also called 46,XX complete gonadal dysgenesis · 46,XX ovarian dysgenesis · 46,XX pure gonadal dysgenesis · Hypergonadotropic ovarian dysgenesis · XX female gonadal dysgenesis · XX-GD
What it is
A rare disorder/difference of sex development characterized by a primary ovarian defect, either a failure of the gonads to develop or resistance to gonadotrophin stimulation which leads to premature ovarian failure (POF) in otherwise phenotypically female 46,XX individuals.
Key facts
- Age of onset
- Adolescent, Adult
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
6Common30–79%
8Sometimes5–29%
4These 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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