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gonadal dysgenesis


Definition: defective gonadal development, varying types and degrees of which have been identified, including gonadal aplasia or agenesis, rudimentary gonads, congenitally defective gonads, and true hermaphroditism; the character of the external genitalia, genital ducts, and secondary sexual development are only sometimes uniquely related to a given type of gonadal dysgenesis XO GONADAL dysgenesis consists of monosomy X with a gonadal streak rather than a true ovary, notably seen in Turner syndrome; XX GONADAL dysgenesis is an autosomal recessive disorder with a female karyotype, streak gonads, and primary amenorrhea, but with no body features of Turner syndrome; XY GONADAL dysgenesis is an X-linked disorder associated with a male karyotype and a female habitus, streaked gonads, and absence of secondary sexual characteristics.

Synonym(s): ovarian dysgenesis

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.