mixed gonadal dysgenesis A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution. DOID:14449 GARD:0002539 MESH:D006060 MONDO:0001969 SCTID:83579008 UMLS:C0018055 gonadal dysgenesis mixed https://rarediseases.info.nih.gov/diseases/2539/gonadal-dysgenesis-mixed Turner syndrome