17β-Hydroxysteroid dehydrogenase III deficiency
Rare autosomal recessive disorder causing impaired masculinisation / From Wikipedia, the free encyclopedia
Dear Wikiwand AI, let's keep it short by simply answering these key questions:
Can you list the top facts and stats about 17β-Hydroxysteroid dehydrogenase III deficiency?
Summarize this article for a 10 year old
SHOW ALL QUESTIONS
17β-Hydroxysteroid dehydrogenase III deficiency is a rare autosomal recessive disorder of sexual development condition that is a cause of 46,XY disorder of sex development (46,XY DSD). The impaired testosterone biosynthesis by 17β-hydroxysteroid dehydrogenase III (17β-HSD III),[6][7] presents as atypical genitalia in affected males.[8]
Quick Facts Other names, Symptoms ...
17β-Hydroxysteroid dehydrogenase III deficiency | |
---|---|
Other names | 17 alpha ketosteroid reductase deficiency of testis,[1] 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency, 17-ketoreductase deficiency, 17-ketosteroidreductase deficiency. |
Biochemical effects of 17β-hydroxysteroid deficiency-3 in testosterone biosynthesis. Typically levels of androstenedione are significantly increased, whilst testosterone levels are decreased, leading to male undervirilization. | |
Symptoms | Hypothyroidism, Cryptorchidism[2] |
Causes | Mutations found in the 17β-HSD III gene[3] |
Diagnostic method | Genetic testing[4] |
Treatment | Gonads should be monitored(possible malignancy)[5] |
Close