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Start free with EleplanLeydig cell hypoplasia due to LHB deficiency
ORPHA:325448Clinical subtype
Also called 46,XY DSD due to LHB deficiency · 46,XY DSD due to luteinizing hormone subunit beta deficiency · 46,XY disorder of sex development due to LHB deficiency · 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency · Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency
What it is
Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.
Key facts
- Inheritance
- Autosomal recessive
- Classified as
- Clinical subtype
Recorded for the broader condition
- Prevalence
- <1 / 1 000 000Leydig cell hypoplasia
- Age of onset
- NeonatalLeydig cell hypoplasia
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Gene
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.
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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