Investigations by the physician include imaging (ultrasound, CAT scan, MRI) and, if possible, obtaining a tissue diagnosis by biopsy, hysteroscopy, or D&C.

Ultimately the diagnosis is established by the histologic examination of the specimen. Typically malignant lesions have >10 mitosis per high power field. In contrast a uterine leiomyoma as a benign lesion would have < 5 mitosis per high power field.

A pelvic examination may detect an adnexal mass. A CA-125 blood test is a nonspecific test that tends to be elevated in patients with tubal cancer. More specific tests are a gynecologic ultrasound examination, a CT scan, or an MRI of the pelvis.

Occasionally, an early fallopian tube cancer may be detected serendipitously during pelvic surgery.

The diagnosis is strongly suggested by ultrasound (sonogram), but definitive diagnosis requires histopathological examination. On ultrasound, the mole resembles a bunch of grapes ("cluster of grapes" or "honeycombed uterus" or "snow-storm"). There is increased trophoblast proliferation and enlarging of the chorionic villi. Angiogenesis in the trophoblasts is impaired as well.

Sometimes symptoms of hyperthyroidism are seen, due to the extremely high levels of hCG, which can mimic the normal Thyroid-stimulating hormone (TSH).

Unusual or postmenopausal bleeding may be a sign of a malignancy including uterine sarcoma and needs to be investigated. Other signs include pelvic pain, pressure, and unusual discharge. A nonpregnant uterus that enlarges quickly is suspicious. However, none of the signs are specific. Specific screening test have not been developed; a Pap smear is a screening test for cervical cancer and not designed to detect uterine sarcoma.

Prognosis depends to a large degree on the stage of the condition. In 1991 it was reported that about half of the patients with advanced stage disease survived 5 years with a surgical approach followed by cisplatinum-based chemotherapy.

A transvaginal ultrasound can reveal the condition.

Helpful techniques to investigate the uterine structure are transvaginal ultrasonography and sonohysterography, hysterosalpingography, MRI, and hysteroscopy. More recently 3-D ultrasonography has been advocated as an excellent non-invasive method to delineate the condition.

The major differential diagnosis is the uterine septum. The lack of agreement to separate these two entities makes it difficult to assess the results in the literature.

A pelvic examination will typically reveal a single vagina and a single cervix. Investigations are usually prompted on the basis of reproductive problems.

Helpful techniques to investigate the uterine structure are transvaginal ultrasonography and sonohysterography, hysterosalpingography, MRI, and hysteroscopy. More recently 3-D ultrasonography has been advocated as an excellent non-invasive method to evaluate uterine malformations.

A unicornuate uterus may be associated with a rudimentary horn on the opposite site. This horn may be communicating with the uterus, and linked to the ispilateral tube. Occasionally a pregnancy may implant into such a horn setting up a dangerous situation as such pregnancy can lead to a potentially fatal uterine rupture. Surgical resection of the horn is indicated.

The diagnosis of thoracic endometriosis is primarily based on clinical history and examination, augmented with non-invasive studies such as X-ray, CT scan, and magnetic resonance imaging of the chest. Pelvic ultrasound is also useful to determine if the patient has any degree of pelvic or abdominal endometriosis (indicated by the presence of free fluid).

More invasive methods for obtaining a tissue diagnosis of thoracic endometriosis include video thoracoscopy (for pleural or pulmonary biopsy), or bronchoscopy (for pulmonary or bronchial biopsy, or bronchial lavage). A case series has been reported in which clinical diagnosis was made in 50% of patients, the rest being diagnosed either via biopsy (25%) or bronchoalveolar lavage (25%). (25%)

A health history and a physical examination can lead the health care practitioner to suspect endometriosis. Although doctors can often feel the endometrial growths during a pelvic exam, and these symptoms may be signs of endometriosis, diagnosis cannot be confirmed by exam only. Use of pelvic ultrasound may identify large endometriotic cysts (called endometriomas). However, smaller endometriosis implants cannot be visualized with ultrasound technique.

An area of research is the search for endometriosis markers.

In 2010 essentially all proposed biomarkers for endometriosis were of unclear medical use, although some appear to be promising. The one biomarker that has been in use over the last 20 years is CA-125. A 2016 review found that in those with symptoms of endometriosis and once ovarian cancer has been ruled out, a positive CA-125 may confirm the diagnosis. Its performance in ruling out endometriosis; however, is low. CA-125 levels appear to fall during endometriosis treatment, but has not shown a correlation with disease response.

Another review in 2011 identified several putative biomarkers upon biopsy, including findings of small sensory nerve fibers or defectively expressed β3 integrin subunit. It has been postulated a future diagnostic tool for endometriosis will consist of a panel of several specific and sensitive biomarkers, including both substance concentrations and genetic predisposition.

Hydatidiform moles should be treated by evacuating the uterus by uterine suction or by surgical curettage as soon as possible after diagnosis, in order to avoid the risks of choriocarcinoma. Patients are followed up until their serum human chorionic gonadotrophin (hCG) level has fallen to an undetectable level. Invasive or metastatic moles (cancer) may require chemotherapy and often respond well to methotrexate. As they contain paternal antigens, the response to treatment is nearly 100%. Patients are advised not to conceive for half a year after hCG levels have normalized. The chances of having another molar pregnancy are approximately 1%.

Management is more complicated when the mole occurs together with one or more normal fetuses.

Diagnosis of EIN lesions is of clinical importance because of the increased risk of coexisting (39% of women with EIN will be diagnosed with carcinoma within one year) or future (the long term endometrial cancer risk is 45 times greater for a woman with EIN compared to one with only a benign endometrial histology) endometrial cancer. Diagnostic terminology is that used by pathologists, physicians who diagnose human disease by examination of histologic preparations of excised tissues. Critical distinctions in EIN diagnosis are separation from benign conditions such as benign endometrial hyperplasia (a field effect in endometrial tissue caused by excessive stimulation by the hormone estrogen), and cancer.

The spectrum of disease which must be distinguished from EIN (Table II) includes benign endometrial hyperplasia and carcinoma:

Table II: Disease classes that need to be distinguished from EIN.

EIN may be diagnosed by a trained pathologist by examination of tissue sections of the endometrium. All of the following diagnostic criteria must be met in a single area of one tissue fragment to make the diagnosis (Table III).

Table III: EIN diagnosis.

A pelvic examination may reveal a double vagina or double cervix that should be further investigated and may lead to the discovery of a uterine septum. In most patients, however, the pelvic examination is normal. Investigations are usually prompted on the basis of reproductive problems.

Helpful techniques to investigate a septum are transvaginal ultrasonography and sonohysterography, MRI, and hysteroscopy. More recently 3-D ultrasonography has been advocated as an excellent non-invasive method to delineate the condition. Prior to modern imaging hysterosalpingography was used to help diagnose the uterine septum, however, a bicornuate uterus may deliver a similar image.

An important category of septate uterus is the hybrid type a variant that may be misdiagnosed as bicornuate uterus when seen by laparoscopy Professor El Saman From Egypt was the first to describe this anomaly and warned gynecologist about this common misdiagnosis, whenever there is a uterine fundus depression on laparoscopy gynecologists should compare the depth of this depression with the depth of the dividing internal interface. Hybrid septate uterus benefit from hysteroscopic metroplasty under laparoscopic control.

Other forms of uterine malformation need to be considered in the work-up for uterine septum. An arcuate uterus contains a residual cranial septum that is smaller than an incomplete septum but definitions between the two conditions are not standardized, - a cause for discrepancies in the literature.

A bicornuate uterus is sometimes confused with a septate uterus as in each situation the cavity is partitioned, however, in the former case the uterine body is cranially doubled (two uterine horns) while in the latter a single uterine body is present. The former represents a malformation of incomplete fusion of the Müllerian systems, and the latter of incomplete absorption. A hysterosalpingogram may not be able to distinguish between the two conditions. The differentiation, however, is important as a septum can be corrected by hysteroscopy, while a bicornuate uterus would be corrected by a metroplasty via laparotomy if necessary.

Patients with a double uterus may need special attention during pregnancy as premature birth and malpresentation are common. Cesarean section was performed in 82% of patients reported by Heinonen.

Uterus didelphys, in certain studies, has also been found associated with higher rate of infertility, miscarriage, intrauterine growth retardation, and postpartum bleed.

Usually bicornuate uterus has good reproductive outcomes. Therefore, the pure type rarely require treatment. In case of hybrid types hysteroscopic metroplasty is needed.

Laparoscopic surgical approaches include of ovarian adhesions and of endometriomas. Endometriomas frequently require surgical removal and excision is considered to be superior in terms of permanent removal of the disease and pain relief. Surgery can sometimes have the effect of improving fertility but can have the adverse effect of leading to increases in cycle day 2 or 3 FSH for many patients.

Laser surgery and cauterization are considered to be far less effective and only burn the top layer of endometrial tissue, allowing for the endometrioma and endometriosis to grow back quickly. Likewise, endometrioma drainage or sclerotherapy are somewhat controversial technique for removing endometriomas with varied degrees of success. Conservative surgery can be performed to preserve fertility in younger patients but as earlier stated can have the effect of raising FSH values and making the ovaries less productive, especially if functional ovarian tissue is removed in the surgical process.

Nonsteroidal anti-inflammatory drugs (NSAIDs) are frequently used first in patients with pelvic pain, particularly if the diagnosis of endometriosis has not been definitively (excision and biopsy) established. The goal of directed medical treatment is to achieve an anovulatory state. Typically, this is achieved initially using hormonal contraception. This can also be accomplished with progestational agents (i.e., medroxyprogesterone acetate), danazol, gestrinone, or gonadotropin-releasing hormone agonists (GnRH), as well as other less well-known agents. These agents are generally used if oral contraceptives and NSAIDs are ineffective. GnRH can be combined with estrogen and progestogen (add-back therapy) without loss of efficacy but with fewer hypoestrogenic symptoms. These medications are often ineffective in treating endometriomas and any relief is short lived while taking the medications. Hormonal treatment has a large number of sometimes permanent side effects, such as hot flushes, loss of bone mass, deepening of voice, weight gain, and facial hair growth.

While a full testing of tubal functions in patients with infertility is not possible, testing of tubal patency is feasible. A hysterosalpingogram will demonstrate that tubes are open when the radioopaque dye spills into the abdominal cavity. Sonography can demonstrate tubal abnormalities such as a hydrosalpinx indicative of tubal occlusion. During surgery, typically laparoscopy, the status of the tubes can be inspected and a dye such as methylene blue can be injected in a process termed chromotubation into the uterus and shown to pass through the tubes when the cervix is occluded. Laparoscopic chromotubation has been described as the gold standard of tubal evaluation. As tubal disease is often related to Chlamydia infection, testing for Chlamydia antibodies has become a cost-effective screening device for tubal pathology.

Tubal insufflation is only of historical interest as an older office method to indicate patency; it was used prior to laparoscopic evaluation of pelvic organs.

Besides a physical examination, the physician will need imaging techniques to determine the character of the malformation: gynecologic ultrasonography, pelvic MRI, or hysterosalpingography. A hysterosalpingogram is not considered as useful due to the inability of the technique to evaluate the exterior contour of the uterus and distinguish between a bicornuate and septate uterus.

In addition, laparoscopy and/or hysteroscopy may be indicated.

In some patients the vaginal development may be affected.

A pelvic examination will typically reveal a double vagina and a double cervix. Investigations are usually prompted on the basis of such findings as well as when reproductive problems are encountered. Not all cases of uterus didelphys involve duplication of the cervix and vagina.

Helpful techniques to investigate the uterine structure are transvaginal ultrasonography and sonohysterography, hysterosalpingography, MRI, and hysteroscopy. More recently 3-D ultrasonography has been advocated as an excellent non-invasive method to evaluate uterine malformations.

Uterus didelphys is often confused with a complete uterine septum. Often more than one method of investigation is necessary to accurately diagnose the condition. Correct diagnosis is crucial as treatment for these two conditions is very different. Whereas most doctors recommend removal of a uterine septum, they generally concur that it is better not to operate on a uterus didelphys. In either case, a highly qualified reproductive endocrinologist should be consulted.

Clear diagnosis is useful to avoid unnecessary treatment and exclude more sinister diagnoses (for example, haemoptysis or pleural effusion could also indicate cancer). Overall treatment for pulmonary endometriosis is surgical, with subsegmentectomy. It is obviously important to preserve as much lung parenchyma as possible, while removing macroscopic signs of pathological tissue. Medical treatment includes gonadotropin-releasing hormone analogues, which can cause cessation of menstruation and decreased libido, as well as a 50% recurrence rate. Even in the asymptomatic, treatment is recommended to prevent possible complications listed above.

Intraductal papillary mucinous neoplasms can come to clinical attention in a variety of different ways. The most common symptoms include abdominal pain, nausea and vomiting. The most common signs patients have when they come to medical attention include jaundice (a yellowing of the skin and eyes caused by obstruction of the bile duct), weight loss, and acute pancreatitis. These signs and symptoms are not specific for an intraductal papillary mucinous neoplasm, making it more difficult to establish a diagnosis. Doctors will therefore often order additional tests.

Once a doctor has reason to believe that a patient may have an intraductal papillary mucinous neoplasm, he or she can confirm that suspicion using one of a number of imaging techniques. These include computerized tomography (CT), endoscopic ultrasound (EUS), and magnetic resonance cholangiopancreatography (MRCP). These tests will reveal dilatation of the pancreatic duct or one of the branches of the pancreatic duct. In some cases a fine needle aspiration (FNA) biopsy can be obtained to confirm the diagnosis. Fine needle aspiration biopsy can be performed through an endoscope at the time of endoscopic ultrasound, or it can be performed through the skin using a needle guided by ultrasound or CT scanning.

IPMN forms cysts (small cavities or spaces) in the pancreas. These cysts are visible in CT scans (X-ray computed tomography). However, many pancreatic cysts are benign (see Pancreatic disease).

A growing number of patients are now being diagnosed before they develop symptoms (asymptomatic patients). In these cases, the lesion in the pancreas is discovered accidentally (by chance) when the patient is being scanned (i.e. undergoing an ultrasound, CT or MRI scan) for another reason. Up to 6% of patients undergoing pancreatic resection did so for treatment of incidental IPMNs.

In 2011, scientists at Johns Hopkins reported that they have developed a gene-based test that can be used to distinguish harmless from precancerous pancreatic cysts. The test may eventually help patients with harmless cysts avoid needless surgery. Bert Vogelstein and his colleagues discovered that almost all of the precancerous cysts (intraductal papillary mucinous neoplasms) of the pancreas have mutations in the KRAS and/or the GNAS gene. The researchers then tested a total of 132 intraductal papillary mucinous neoplasms for mutations in KRAS and GNAS. Nearly all (127) had mutations in GNAS, KRAS or both. Next, the investigators tested harmless cysts such as serous cystadenomas, and the harmless cysts did not have GNAS or KRAS mutations. Larger numbers of patients must be studied before the gene-based test can be widely offered.