<unk>  is a rare disorder caused by genetic mutations in the gene CYP17A1, while not affecting<unk> α-hydroxylase.<unk>  is a rare disease with only a small number of confirmed reports due to mutations in the CYP17A1 gene. Observed physiological abnormalities of the condition include markedly elevated serum levels of progestogens such as progesterone and<unk> α-hydroxyprogesterone (due to upregulation of precursor availability for androgen and estrogen synthesis), very low or fully absent peripheral concentrations of androgens such as dehydroepiandrosterone (DHEA), androstenedione, and testosterone and estrogens such as estradiol (due to the lack of<unk> ,20-lyase activity, which is essential for their production), and high serum concentrations of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH) (due to a lack of negative feedback on account of the lack of sex hormones).
Isolated 17,20-lyase deficiency
5α-Reductase 2 deficiency
17β-Hydroxysteroid dehydrogenase III deficiency
Aromatase deficiency
Cortisone reductase deficiency
Androgen-induced hermaphroditism
Aromatase excess syndrome
Estrogen insensitivity syndrome