Some associated characteristics include short stature, a broad shield-like chest, webbed neck, premature ovarian failure, and heart and kidney abnormalities.

As described in the name, individuals with this syndrome have a Wilms tumor (type of renal cancer), aniridia (partial or complete absence of the iris), genitourinary abnormalities, as well as development delay.

[13][14] XX gonadal dysgenesis is thought to be mainly caused by genetic defects in the pathways of ovarian development, specifically via autosomal-recessive inheritance since a positive family history or consanguinity has been noted.

Because the adrenal glands can make limited amounts of androgens and are not affected by this syndrome, most of these individuals will develop pubic hair, though it often remains sparse.

[34][35] Imaging can include a pelvic ultrasound or MRI, which would reveal normal internal genitalia such as a uterus but with streak gonads, which can be small and thus not easily visualized.

For example, if an individual has gonadal dysgenesis as a part of WAGR syndrome, there is a significant effect on morbidity (i.e., intellectual disabilities, chronic kidney disease, vision impairment) and mortality (i.e., Wilms tumor).

[43][44] Without other somatic stigmata, XX gonadal dysgenesis complications include effects on fertility and other comorbidities generally associated with primary ovarian insufficiency.

[47] Cardiovascular disease risk affects both morbidity and mortality—estrogen plays regulatory roles in lipid metabolism, endothelial function, insulin resistance, and inflammatory markers.

[48] Sexual and reproductive dysfunction from primary ovarian insufficiency has been associated with increased levels of depression, anxiety, low self-esteem, and psychosocial stress.