Definition

A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the HSD17B3 gene on chromosome 9q22.

Synonyms

17-beta-hydroxysteroid dehydrogenase 3 deficiency
17-ketoreductase deficiency

Cross References

Parent Terms

Child Terms

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17-beta hydroxysteroid dehydrogenase 3 deficiency

17-beta hydroxysteroid dehydrogenase 3 deficiency

Associated Genes

Associated Alleles

Associated Models