Leydig cell hypoplasia

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Leydig cell hypoplasia due to complete LH resistance

ORPHA:96265Clinical subtype

Also called 46,XY disorder of sex development due to complete luteinizing hormone resistance · Leydig cell hypoplasia due to complete LH receptor inactivation · Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation · Leydig cell hypoplasia due to complete luteinizing hormone resistance · 46,XY DSD due to complete LH receptor inactivation · 46,XY DSD due to complete LH resistance · 46,XY DSD due to complete luteinizing hormone receptor inactivation · 46,XY DSD due to complete luteinizing hormone resistance · 46,XY disorder of sex development due to complete LH receptor inactivation · 46,XY disorder of sex development due to complete LH resistance · 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation

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

Age of onset
Neonatal
Inheritance
Autosomal recessive
Classified as
Clinical subtype

Recorded for the broader condition

Prevalence
<1 / 1 000 000Leydig 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

LHCGRDisease-causing germline mutation(s) (loss of function)

ICD-10 codes

Q56.1filed under a broader ICD-10 category — shared with 4 other rare diseases

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

MONDO 0019930OMIM 238320UMLS C5438974

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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