46,XY difference of sex development of…

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46,XY difference of sex development of endocrine origin

ORPHA:325351Category

Also called 46,XY DSD of endocrine origin · 46,XY disorder of sex development of endocrine origin

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

Classified as
Category

Recorded for the broader condition

Prevalence
1-9 / 100 000 (at birth, Denmark)46,XY difference of sex development

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.

Genes reported in subtypes

AMHAMHR2

Orphanet records these genes on 1 more specific entry under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MONDO 17969UMLS C5679872

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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