A female with this condition is hormonally normal; that is, the person will enter puberty with development of secondary sexual characteristics including thelarche and pubarche (pubic hair). The person's karyotype will be 46,XX. At least one ovary is intact, if not both, and ovulation usually occurs. Typically, the vagina is shortened and intercourse may, in some cases, be difficult and painful. Medical examination supported by gynecologic ultrasonography demonstrates a complete or partial absence of the cervix, uterus, and vagina. If there is no uterus, a woman with MRKH cannot carry a pregnancy without intervention. It is possible for the person to have genetic offspring by in vitro fertilization (IVF) and surrogacy. Successful uterine transplant has been performed in limited numbers of patients, resulting in several live births, but the technique is not widespread or accessible to many women. A person with MRKH typically discovers the condition when, during puberty years, the menstrual cycle does not start (primary amenorrhoea). Some find out earlier through surgeries for other conditions, such as a hernia.
Müllerian agenesis
XY gonadal dysgenesis
Androgen-induced hermaphroditism
Gonadal dysgenesis
Aromatase deficiency
Persistent Müllerian duct syndrome
Gonadotropin-releasing hormone insensitivity
Androgen insensitivity syndrome