Rare Disease Library

46,XY partial gonadal dysgenesis

46,XY PGD · 46,XY partial testicular dysgenesis

46,XX gonadal dysgenesis

46,XX complete gonadal dysgenesis · 46,XX ovarian dysgenesis

46,XX testicular difference of sex development

46,XX testicular DSD · De la Chapelle syndrome

46,XY complete gonadal dysgenesis

46,XY CGD · 46,XY pure gonadal dysgenesis

46,XY difference of sex development due to adrenal and testicular steroidogenesis defect

46,XY DSD due to adrenal and testicular steroidogenesis defect · 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect

46,XY difference of sex development due to testicular steroidogenesis defect

46,XY disorder of sex development due to testicular steroidogenesis defect · 46,XY DSD due to testicular steroidogenesis defect

46,XY ovotesticular difference of sex development

46,XY ovotesticular DSD · 46,XY ovotesticular disorder of sex development

Renal tubular dysgenesis

Primitive renal tubule syndrome · Renotubular dysgenesis

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Testicular agenesis

Bilateral anorchia