Which are the causes of Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH)?

Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH), also known as Müllerian agenesis, is a rare congenital disorder that affects the development of the female reproductive system. It is characterized by the absence or underdevelopment of the uterus and the upper part of the vagina, while the external genitalia appear normal.

The exact cause of MRKH syndrome is not yet fully understood, but it is believed to result from a combination of genetic and environmental factors. Several potential causes have been proposed:

1. Genetic Factors: Studies have suggested that MRKH syndrome may have a genetic basis. It is thought to be a multifactorial disorder, meaning that it is influenced by multiple genes as well as environmental factors. However, the specific genes involved in MRKH syndrome have not been identified yet.

2. Embryological Factors: MRKH syndrome is thought to arise during embryonic development. The Müllerian ducts, which give rise to the uterus, fallopian tubes, and upper vagina, fail to develop properly in affected individuals. The exact reasons behind this developmental abnormality are still unknown.

3. Hormonal Factors: Hormonal imbalances or disruptions during critical periods of fetal development may contribute to the development of MRKH syndrome. These imbalances could potentially affect the growth and differentiation of the Müllerian ducts, leading to their underdevelopment or absence.

4. Environmental Factors: Some environmental factors, such as exposure to certain medications, toxins, or infections during pregnancy, have been suggested as possible contributors to MRKH syndrome. However, no specific environmental factors have been definitively linked to the condition.

5. Familial Occurrence: MRKH syndrome can sometimes occur in families, suggesting a possible genetic component. However, the inheritance pattern is not well understood, and the condition is often sporadic.

It is important to note that MRKH syndrome is not caused by anything the affected individual or their parents did or did not do. It is a congenital condition that occurs during fetal development. Early diagnosis and appropriate medical care can help individuals with MRKH syndrome manage the condition and achieve their reproductive goals through various treatment options.