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

More general terms

• gonadal dysgenesis

Database

• OMIM: https://mirror.omim.org/entry/233420