46,xy Partial Gonadal Dysgenesis

46,xy Partial Gonadal Dysgenesis, also known as 46,xy partial testicular dysgenesis, is related to 46,xy sex reversal 11 and 46,xy disorder of sex development. An important gene associated with 46,xy Partial Gonadal Dysgenesis is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1), and among its related pathways/superpathways are Nervous system development and Development Endothelin-1/EDNRA transactivation of EGFR. Affiliated tissues include testis and ovary, and related phenotypes are increased circulating gonadotropin level and osteoporosis