The occurrence of all types of paramesonephric duct abnormalities in women is estimated around 0.4%.

A bicornuate uterus is estimated to occur in 0.1-0.5% of women in the U.S.

It is possible that this figure is an underestimate, since subtle abnormalities often go undetected. Some intersex individuals whose external genitalia are perceived as being male may nonetheless have a variably shaped uterus.

Pregnancies in a bicornuate uterus are usually considered high risk and require extra monitoring because of association with poor reproduction potential.

A bicornuate uterus is associated with increased adverse reproductive outcomes, such as:

- Recurrent pregnancy loss

- Preterm birth: The rate of preterm delivery is 15 to 25%. A pregnancy may not reach full term in a bicornuate uterus when the baby begins to grow in either of the uterine horns. A short cervical length seems to be a good predictor of preterm delivery in women with a bicornuate uterus.

- Malpresentation (breech birth or transverse presentation): a breech presentation occurs in 40-50% of pregnancies with a partial bicornuate uterus and not at all (0%) in a complete bicornuate uterus.

- Deformity: Offspring of mothers with a bicornuate uterus are at high risk for "deformities and disruptions" and "malformations."

Previously, a bicornuate uterus was thought to be associated with infertility, but recent studies have not confirmed such an association.

In the United States, uterus didelphys is reported to occur in 0.1–0.5% of women. It is difficult to know the exact occurrence of this anomaly, as it may go undetected in the absence of medical and reproductive complications.

Most studies of uterine malformations are based on populations of women who have experienced a pregnancy loss and thus do not address the issue of the prevalence in the general population. A screening study by Woelfer et al. of women without a history of reproductive problems found that about 5% of women had an arcuate uterus when they defined an arcuate uterus any fundal protrusion into the cavity that had an apical angle of more than 90 degrees. Accordingly, it was the most common uterine anomaly, followed by septate uterus (3%) and bicornuate uterus (0.5%).

The prevalence of uterine malformation is estimated to be 6.7% in the general population, slightly higher (7.3%) in the infertility population, and significantly higher in a population of women with a history of recurrent miscarriages (16%).

A number of twin gestations have occurred where each uterus carried its pregnancy separately. A recent example occurred on February 26, 2009, when Sarah Reinfelder of Sault Ste. Marie, Michigan delivered two healthy, although seven weeks premature, infants by cesarean section at Marquette General Hospital. It is possible that the deliveries occur at different times, thus the delivery interval could be days or even weeks.

The condition may not be known to the affected individual and not result in any reproductive problems; thus normal pregnancies occur. Indeed, there is no consensus on the relationship of the arcuate uterus and recurrent pregnancy loss. Accordingly, the condition may be a variation or a pathology.

One view maintains that the condition is associated with a higher risk for miscarriage, premature birth, and malpresentation. Thus a study that evaluated women with uterine bleeding by hysteroscopy found that 6.5% of subjects displayed the arcuate uterus and had evidence of reproductive impairments. A study based on hysterosalpingraphic detected arcuate lesions documented increased fetal loss and obstetrical complications as a risk for affected women. Woelfer found that the miscarriage risk is more pronounced in the second trimester. In contrast, a study utilizing 3-D ultrasonography to document the prevalence of the arcuate uterus in a gynecological population found no evidence of increased risk of reproductive loss; in this study 3.1% of women had an arcuate uterus making it the most common uterine anomaly; this prevalence was similar than in women undergoing sterilization and lower than in women with recurrent pregnancy loss.

Most studies are based on populations of women who have experienced a pregnancy loss and thus do not address the issue of the prevalence in the general population. A screening study by Woelfer et al. of women without a history of reproductive problems found that about 3% of women had a uterine septation; the most common anomaly in their study was an arcuate uterus (5%), while 0.5% were found to have a bicornuate uterus. In contrast, in about 15% of patients with recurrent pregnancy loss anatomical problems are thought to be causative with the septate uterus as the most common finding.

Women with the condition may be asymptomatic and unaware of having a uniconuate uterus; normal pregnancy may occur. In a review of the literature Reichman et al. analyzed the data on pregnancy outcome of 290 women with a unicornuate uterus. 175 women had conceived for a total of 468 pregnancies. They found that about 50% of patients delivered a live baby. The rates for ectopic pregnancy was 2.7%, for miscarriage 34%, and for preterm delivery 20%, while the intrauterine demise rate was 10%. Thus patients with a unicornuate uterus are at a higher risk for pregnancy loss and obstetrical complications.

Cervical agenesis is estimated to occur in 1 in 80,000 females. It is often associated with deformity of the vagina; one study found that 48% of patients with cervical agenesis had a normal, functional vagina, while the rest of the cases were accompanied by vaginal hypoplasia.

The condition may not be known to the affected individual and not result in any reproductive problems; thus normal pregnancies may occur. However, it is associated with a higher risk for miscarriage, premature birth, and malpresentation. According to the classical study by Buttram there is a 60% risk of a spontaneous abortion, this being more common in the second than in the first trimester. However, there is no agreement on this number and other studies show a lower risk. Woelfer found that the miscarriage risk is more pronounced in the first trimester.

The condition is also associated with abnormalities of the renal system. Further, skeletal abnormalities have been linked to the condition.

The uterus is normally formed during embryogenesis by the fusion of the two Müllerian ducts. If one of the ducts does not develop, only one Müllerian duct contributes to the uterine development. This uterus may or may not be connected to Müllerian structure on the opposite site if the Müllerian duct on that site undergoes some development. A unicornuate uterus has a single cervix and vagina.

Associated defects may affect the renal system, and less common, the skeleton.

The condition is much less common than these other uterine malformations: arcuate uterus, septate uterus, and bicornuate uterus. While the uterus didelphys is estimated to occur in 1/3,000 women, the unicornuate uterus appears to be even more infrequent with an estimated occurrence of about 1/4,000.

A uterine malformation is a type of female genital malformation resulting from an abnormal development of the Müllerian duct(s) during embryogenesis. Symptoms range from amenorrhea, infertility, recurrent pregnancy loss, and pain, to normal functioning depending on the nature of the defect.

Adenomyosis itself can cause infertility issues, however, fertility can be improved if the adenomyosis has resolved following hormone therapies like levonorgestrel therapy. The discontinuation of medication or removal of IUD can be timed to be coordinated with fertility treatments. There has also been one report of a successful pregnancy and healthy birth following high-frequency ultrasound ablation of adenomyosis.

Preterm labour and premature rupture of membranes both occur more frequently in women with adenomyosis.

In sub-fertile women who received in-vitro fertilization (IVF), women with adenomyosis were less likely to become pregnant and subsequently more likely to experience a miscarriage. Given this, it is encouraged to screen women for adenomyosis by TVUS or MRI before starting assisted reproduction treatments (ART).

Adenomyosis is a benign but often progressing condition. It is advocated that adenomyosis poses no increased risk for cancer development. However, both entities could coexist and the endometrial tissue within the myometrium could harbor endometrioid adenocarcinoma, with potentially deep myometrial invasion. As the condition is estrogen-dependent, menopause presents a natural cure. Ultrasound features of adenomyosis will still be present after menopause. People with adenomyosis are also more likely to have uterine fibroids or endometriosis.

Uterine hypoplasia, also known as naive uterus or infantile uterus, is a reproductive disorder characterized by hypoplasia of the uterus. It is usually due to pubertal failure/hypogonadism and may be treated with puberty induction using estrogens and/or progestogens.

Cervical agenesis is a congenital disorder of the female genital system that manifests itself in the absence of a cervix, the connecting structure between the uterus and vagina. Milder forms of the condition, in which the cervix is present but deformed and nonfunctional, are known as cervical atresia or cervical dysgenesis.

A retroverted uterus (tilted uterus, tipped uterus) is a uterus that is tilted posteriorly. This is in contrast to the slightly "anteverted" uterus that most women have, which is tipped forward toward the bladder, with the anterior end slightly concave.

Between 1 in 3 and 1 in 5 women (depending on the source) has a retroverted uterus, which is tipped backwards towards the spine.

WNT4 (found on the short arm (p) of chromosome 1) has been clearly implicated in the atypical version of this disorder. A genetic mutation causes a leucine to proline residue substitution at amino acid position 12. This occurrence reduces the intranuclear levels of β catenin. In addition, it removes the inhibition of steroidogenic enzymes like 3β-hydroxysteriod dehydrogenase and 17α-hydroxylase. Patients therefore have androgen excess. Furthermore, without WNT4, the Müllerian duct is either deformed or absent. Female reproductive organs, such as the cervix, fallopian tubes, ovaries, and much of the vagina, are hence affected.

An association with a deletion mutation in the long arm (q) of chromosome 17 (17q12) has been reported. The gene LHX1 is located in this region and may be the cause of a number of these cases.

Rarely, a sharply tilted uterus is due to a disease such as endometriosis, an infection or prior surgery. Although this may make it more challenging for the sperm to reach the egg, conception can still occur. A tipped uterus will usually right itself during the 10th to 12th week of pregnancy. Rarely (1 in 3000 to 8000 pregnancies) a tipped uterus will cause painful and difficult urination, and can cause severe urinary retention. Treatment for this condition (called "incarcerated uterus") includes manual anteversion of the uterus, and usually requires intermittent or continuous catheter drainage of the bladder until the problem is rectified or spontaneously resolves by the natural enlargement of the uterus, which brings it out of the tipped position. In addition to manual anteversion and bladder drainage, treatment of urinary retention due to retroverted uterus can require the use of a pessary, or even surgery, but often is as simple as having the pregnant mother sleep on her stomach for a day or two, to allow the retroverted uterus to move forward.

If a uterus does not right itself, it may be labeled "persistent".

Müllerian agenesis or müllerian aplasia, Mayer–Rokitansky–Küster–Hauser syndrome, or vaginal agenesis is a congenital malformation characterized by a failure of the Müllerian duct to develop, resulting in a missing uterus and variable degrees of vaginal hypoplasia of its upper portion. Müllerian agenesis (including absence of the uterus, cervix and/or vagina) is the cause in 15% of cases of primary amenorrhoea. Because most of the vagina does not develop from the Müllerian duct, instead developing from the urogenital sinus along with the bladder and urethra, it is present even when the Müllerian duct is completely absent.

Because ovaries do not develop from the Müllerian ducts, affected women might have normal secondary sexual characteristics but are infertile due to the lack of a functional uterus. However, motherhood is possible through use of gestational surrogates. Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is hypothesized to be a result of autosomal dominant inheritance with incomplete penetrance and variable expressivity, which contributes to the complexity involved in identifying of the underlying mechanisms causing the condition. Because of the variance in inheritance, penetrance and expressivity patterns, MRKH is subdivided into two types: type 1, in which only the structures developing from the Müllerian duct are affected (the upper vagina, cervix, and uterus), and type 2, where the same structures are affected, but is characterized by the additional malformations of other body systems most often including the renal and skeletal systems. MRKH type 2 includes MURCS (Müllerian Renal Cervical Somite). The majority of MRKH syndrome cases are characterized as sporadic, but familial cases have provided evidence that, at least for some patients, MRKH is an inherited disorder. The underlying causes of MRKH syndrome is still being investigated, but several causative genes have been studied for their possible association with the syndrome. Most of these studies have served to rule-out genes as causative factors in MRKH, but thus far, only WNT4 has been associated with MRKH with hyperandrogenism.

The medical eponym honors August Franz Josef Karl Mayer (1787–1865), Carl Freiherr von Rokitansky (1804–1878), Hermann Küster (1879–1964), and Georges Andre Hauser (1921–2009).

Endometrioma is the presences of endometrial tissue in and sometimes on the ovary. More broadly, endometriosis is the presence of endometrial tissue located outside the uterus. The presence of endometriosis can result in the formation of scar tissue, adhesions and an inflammatory reaction. It is a benign growth. An endometrioma is most often found in the ovary. It can also develop in the cul-de-sac (space be hind the uterus), the surface of the uterus, and between the vagina and rectum.

A boggy uterus is a finding upon physical examination where the uterus is more flaccid than would be expected.

It can be associated with uterine atony.

It may also be associated with adenomyosis.

Uterine hyperplasia, or enlarged uterus, is a medical symptom in which the volume and size of the uterus in a female is abnormally high. It can be a symptom of medical conditions such as adenomyosis, uterine fibroids, ovarian cysts, and endometrial cancer.

Hematometra develops when the uterus becomes distended with blood secondary to obstruction or atresia of the lower reproductive tract—the uterus, cervix or vagina—which would otherwise provide an outflow for menstrual blood. It is most commonly caused by congenital abnormalities, including imperforate hymen, transverse vaginal septum or vaginal hypoplasia. Other causes are acquired, such as cervical stenosis, intrauterine adhesions, endometrial cancer, and cervical cancer.

Additionally, hematometra may develop as a complication of uterine or cervical surgery such as endometrial ablation, where scar tissue in the endometrium can "wall off" sections of endometrial glands and stroma causing blood to accumulate in the uterine cavity. It can also develop after abortion, as well as after childbirth. It can also develop after female genital mutilation.