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complete pure gonadal dysgenesis 46,XY type; male-limited gonadal dysgenesis 46,XY (GDXYM)
Pathology:
- the gonads are found to be non-functional streaks
Genetics:
- associated with defects in DHH (desert hedgehog protein)
Clinical manifestations:
- hypogonadism in which no functional gonads are present to induce puberty in an externally female person
Laboratory:
- karyotype is found to be XY
General
gonadal dysgenesis
Database Correlations
OMIM 233420
References
OMIM :accession 233420