Gonadal Dysgenesis, Mixed D006060

Related MeSH Hierarchy (12)

Diseases [C] » Urogenital Diseases [C12] » Urogenital Abnormalities » Disorders of Sex Development » Gonadal Dysgenesis » Gonadal Dysgenesis, Mixed

Diseases [C] » Endocrine System Diseases [C19] » Gonadal Disorders » Disorders of Sex Development » Gonadal Dysgenesis » Gonadal Dysgenesis, Mixed

Description

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.   MeSH

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