17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency (MPH)

Alias:

Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency

Pseudohermaphroditism, Male, with Gynecomastia

17-Ksr Deficiency

17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency

17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

17-Ketosteroid Reductase Deficiency of Testis

Testosterone 17-Beta-Dehydrogenase Deficiency

17-Ketosteroidreductase Deficiency

17-Ketoreductase Deficiency

46,xy Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

46,xy Difference of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

46,xy Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase 3

Hydroxysteroid Dehydrogenase Iii Deficiency

Male Pseudohermaphroditism with Gynecomastia

Pseudohermaphroditism Male with Gynecomastia

Male Pseudohermaphrodism with Gynecomastia

17-Hydroxysteroid Dehydrogenase Deficiency

Mph

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency, also known as neutral 17-beta-hydroxysteroid oxidoreductase deficiency, is related to hypospadias and gynecomastia. An important gene associated with 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency is HSD17B3 (Hydroxysteroid 17-Beta Dehydrogenase 3), and among its related pathways/superpathways are Metabolism of steroids and Metabolism of steroid hormones. Affiliated tissues include prostate and testis, and related phenotypes are cryptorchidism and hypogonadotropic hypogonadism

Related ID：

MALACARDS：17B003

OMIM：264300

MESH：D058490