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Mixed gonadal dysgenesis

MONDO:0001969

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.

Also known as: gonadal dysgenesis mixed

82 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Infertility disorder (311) Hereditary disease (172) Female infertility (85) Endocrine system disorder (61) Primary ovarian failure (44) Hypogonadism (41) Syndromic disease (24) Female reproductive system disorder (23) Hereditary endocrine growth disease (23)
Trials to join now! 32 Not yet recruiting 14 Not yet finished but already full! 6 Completed 27 Terminated 3
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