AMH : anti-Mullerian hormone
Description
The AMH gene, also known as the anti-Müllerian hormone gene, plays a crucial role in male sexual development. It encodes a protein called anti-Müllerian hormone (AMH), which acts as a signaling molecule during fetal development. AMH is primarily produced by the developing testes in males, and its primary function is to suppress the development of the Müllerian ducts, which would otherwise give rise to female reproductive organs like the uterus and fallopian tubes. In essence, AMH ensures the proper formation of the male reproductive system by inhibiting the development of female reproductive structures.
Associated Diseases
- Müllerian duct anomalies (MDA): These are a group of conditions characterized by abnormalities in the development of the uterus, fallopian tubes, and vagina. Mutations in the AMH gene can lead to incomplete regression of the Müllerian ducts, resulting in a range of MDA phenotypes.
- Persistent Müllerian duct syndrome (PMDS): This is a rare condition where the Müllerian ducts fail to regress completely due to a deficiency in AMH production or a lack of responsiveness to AMH. Individuals with PMDS have both male and female internal reproductive organs.
Did you know?
AMH is also known as Müllerian inhibiting substance (MIS).
