46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
MONDO:0009916Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.
Also known as: 17 Beta HSD3 deficiency, 17 beta HSD3 deficiency, 17-beta-hydroxysteroid dehydrogenase 3 deficiency, 17-ketoreductase deficiency, 17-ketosteroidreductase deficiency, 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency, Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency, 17 alpha KSR deficiency
4 clinical trials for this condition and its sub-types.
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Disease
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Hereditary disease
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Endocrine system disorder
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Reproductive system disorder
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Human disease
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Developmental defect during embryogenesis
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Disorder of sexual differentiation
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Gonadal disorder
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46,XY disorder of sex development
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Disease of genetic or genomic mechanism
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