<n0:ComplexDefinition xmlns:n0="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><n0:def-definition>A syndrome of defective gonadal development in phenotypic women with a karyotype of sex chromosome monosomy (45,X or 45,XO), associated with the loss of a sex chromosome X or Y. Patients generally are of short stature with undifferentiated (streak) gonads, sexual infantilism (HYPOGONADISM), webbing of the neck, cubitus valgus, elevated GONADOTROPINS (LH and FOLLICLE STIMULATING HORMONE) and decreased estradiol level in blood. Studies of Turner Syndrome and its variants have contributed significantly to the understanding of SEX DIFFERENTIATION.</n0:def-definition><n0:def-source>MSH2003_2003_05_12</n0:def-source></n0:ComplexDefinition><n0:ComplexDefinition xmlns:n0="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><n0:def-definition>genetic disease that produces sterile females due to monosomy for X chromosome; the ovaries are rudimentary or missing; other abnormalities include short stature, webbed neck, and a broad chest with widely spaced nipples.</n0:def-definition><n0:def-source>CSP2003</n0:def-source></n0:ComplexDefinition>
<n0:ComplexDefinition xmlns:n0="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><n0:def-definition>A gonadal dysgenesis syndrome occurring in phenotypic females, characterized by the absence of a part or all of one of the sex chromosomes. Signs and symptoms include short stature, webbing of neck, low-set ears, hypogonadism, and sterility.</n0:def-definition><n0:def-source>NCI</n0:def-source></n0:ComplexDefinition>