AMHR2 : anti-Mullerian hormone receptor type 2
Description
The AMHR2 gene, also known as the anti-Müllerian hormone receptor type 2 gene, plays a crucial role in the development of male reproductive organs. It encodes a protein that binds to anti-Müllerian hormone (AMH), a hormone produced by the testes during fetal development. This binding triggers a signaling cascade that leads to the regression of the Müllerian ducts, which would otherwise develop into female reproductive structures. In essence, AMHR2 acts as a molecular switch, directing the development of a male reproductive system.
Associated Diseases
- **Müllerian Duct Persistence (MDP)**: This condition occurs when the Müllerian ducts fail to regress properly, leading to the development of various female reproductive structures in males, such as a uterus or fallopian tubes.
- **Persistent Müllerian Duct Syndrome (PMDS)**: Similar to MDP, PMDS involves the incomplete regression of the Müllerian ducts, often resulting in a range of anatomical variations.
- **Cryptorchidism** (undescended testicles): While not directly caused by AMHR2 mutations, AMHR2 signaling may contribute to the normal descent of the testes.
- **Infertility** (in both males and females): Mutations in AMHR2 can disrupt normal reproductive development, potentially leading to infertility issues.
Did you know?
Interestingly, AMHR2 mutations can have varying degrees of severity. Some individuals may experience only subtle anatomical variations, while others may have more pronounced conditions like MDP or PMDS.
