HSD3B2 : hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

Description

The HSD3B2 gene encodes for 3-beta-hydroxysteroid dehydrogenase type 2, an enzyme crucial for the synthesis of steroid hormones, particularly in the adrenal glands. This enzyme catalyzes the conversion of pregnenolone to progesterone, a critical step in the production of cortisol and other hormones. Variations in the HSD3B2 gene can lead to a range of health issues, impacting both male and female reproductive systems and overall hormonal balance.

Associated Diseases

• Congenital Adrenal Hyperplasia (CAH)
• Adrenal Insufficiency
• Polycystic Ovary Syndrome (PCOS)
• Male Infertility
• Premature Ovarian Failure

Did you know?

Mutations in the HSD3B2 gene are responsible for a significant proportion of cases of congenital adrenal hyperplasia (CAH), a group of genetic disorders affecting the adrenal glands.