Single most likely diagnosis
- Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: This is a congenital disorder characterized by the absence or underdevelopment of the vagina and uterus, which makes it the most likely diagnosis for a condition with a missing uterus.
Other Likely diagnoses
- Androgen Insensitivity Syndrome (AIS): This condition occurs when an individual with a Y chromosome is resistant to androgens, leading to the development of female external genitalia but with a missing or rudimentary uterus.
- Gonadal dysgenesis: This refers to a group of conditions where there is abnormal development of the gonads, which can lead to the absence of a uterus.
Do Not Miss diagnoses
- Testicular feminization: Although rare, this condition can present with a missing uterus due to the resistance to androgens, and it's crucial not to miss it due to its implications on fertility and potential malignancy risk.
- Swyer syndrome: Characterized by the presence of a Y chromosome and streak gonads, individuals with Swyer syndrome have a high risk of gonadal tumors, making it a critical diagnosis not to miss.
Rare diagnoses
- Vaginal atresia: A rare condition where the vagina is underdeveloped or absent, which can sometimes be associated with uterine anomalies, including a missing uterus.
- Uterine agenesis: A rare congenital anomaly where the uterus fails to develop, which can be isolated or part of a syndrome like MRKH.