The physician will obtain a medical history and evaluate for tubal obstructions and infections. Obstruction can occur anywhere along the length of the tube. It can be partially or completely blocked. The extent of obstruction is typically assessed using hysterosalpingogram (HSG). Some use laparoscopy to establish the extent of the disease. Pelvic adhesions can be visualized, if present.

Distal tubal obstruction is more often observed (70%) than proximal obstruction. It can be caused by hydrosalpinges, pelvic adhesions, or fusion of the fimbriae. Tubal obstruction is caused by infection, endometriosis, myomas, salpingitis isthmica nodosa (SIN), or dried mucus. Because the tube can spasm during the injection of the dye during a hysterosalpingogram, it can be misdiagnosed.

If both partners are young and healthy and have been trying to conceive for one year without success, a visit to a physician or women's health nurse practitioner (WHNP) could help to highlight potential medical problems earlier rather than later. The doctor or WHNP may also be able to suggest lifestyle changes to increase the chances of conceiving.

Women over the age of 35 should see their physician or WHNP after six months as fertility tests can take some time to complete, and age may affect the treatment options that are open in that case.

A doctor or WHNP takes a medical history and gives a physical examination. They can also carry out some basic tests on both partners to see if there is an identifiable reason for not having achieved a pregnancy. If necessary, they refer patients to a fertility clinic or local hospital for more specialized tests. The results of these tests help determine the best fertility treatment.

Amniocentesis and chorionic villus sampling are procedures conducted to assess the fetus. A sample of amniotic fluid is obtained by the insertion of a needle through the abdomen and into the uterus. Chorionic villus sampling is a similar procedure with a sample of tissue removed rather than fluid. These procedures are not associated with pregnancy loss during the second trimester but they are associated with miscarriages and birth defects in the first trimester. Miscarriage caused by invasive prenatal diagnosis (chorionic villus sampling (CVS) and amniocentesis) is rare (about 1%).

The prognosis for vaginal atresia is one that is complicated. There are variations in patients' anatomic findings as well as an absence in consistent surgical techniques which makes it difficult to give a prognosis for this condition. Along with other conditions that give rise to an abnormal perineum (i.e. ambiguous genitalia and other various abnormalities that range from cloaca to urogenital sinus), individuals with vaginal atresia often report reconstruction as an outcome of treatment. Due to this, it is difficult to compare outcomes between individuals with vaginal atresia.

A review article in The New England Journal of Medicine based on a consensus meeting of the Society of Radiologists in Ultrasound in America (SRU) has suggested that miscarriage should be diagnosed only if any of the following criteria are met upon ultrasonography visualization:

Luteomas are not often detected before delivery. Most luteomas are found during surgery if a caesarean section is performed or when some other surgery is performed. Pre-delivery detection is not effective for many reasons. Some tests, that can be performed pre-delivery, measure the amount of testosterone in the blood; however, this is not a very useful detection method since normal pregnancies have increased amounts of testosterone. Another method that would be useful to determine if a fetus is being exposed to testosterone is to test the placenta and umbilical cord for testosterone. The placenta has a mechanism for converting hormones from the mother into hormones that the fetus needs. If the amount of testosterone in the umbilical cord is higher than normal, the gene type of the fetus should be determined to see if the fetus is male or female. If the fetus is female then the high levels of testosterone in the umbilical cord could be an indicator that a luteoma is present. Unfortunately, this procedure can't be safely performed until after the fetus has undergone differentiation (when the sex of the fetus becomes apparent). But by this time the damage has already been done.

Potential methods in unexplained infertility include oral ovarian stimulation agents (such as clomifene citrate, anastrozole or letrozole) as well as intrauterine insemination (IUI), intracervical insemination (ICI) and in vitro fertilization (IVF).

In women who have not had previous treatment, ovarian stimulation combined with IUI achieves approximately the same live birth rate as IVF. On the other hand, in women who have had previous unsuccessful treatment, IVF achieves a live birth rate approximately 2-3 times greater than ovarian stimulation combined with IUI.

IUI and ICI has higher pregnancy rates when combined with ovarian stimulation in couples with unexplained infertility, for IUI being 13% unstimulated and 15% stimulated, and for ICI being 8% unstimulated and 15% stimulated. However, the rate of twin birth increases substantially with IUI or ICI combined with ovarian stimulation, for IUI being 6% unstimulated and 23% stimulated, and for ICI being 6% unstimulated and 23% stimulated.

According to NICE guidelines, oral ovarian stimulation agents should not be given to women with unexplained infertility. Rather, it is recommended that in vitro fertilization should be offered to women with unexplained infertility when they have not conceived after 2 years of regular unprotected sexual intercourse. IVF avails for embryo transfer of the appropriate number of embryos to give good chances of pregnancy with minimal risk of multiple birth.

A review of randomized studies came to the result that IVF in couples with a high chance of natural conception, as compared to IUI/ICI with or without ovarian stimulation, was "more" effective in three studies and "less" effective in two studies.

There is no evidence for an increased risk of ovarian hyperstimulation syndrome (OHSS) with IVF when compared with ovarian stimulation combined with IUI.

According to American Congress of Obstetricians and Gynecologists, the main methods to calculate gestational age are:

- Directly calculating the days since the beginning of the last menstrual period.

- Early obstetric ultrasound, comparing the size of an embryo or fetus to that of a reference group of pregnancies of known gestational age (such as calculated from last menstrual periods), and using the mean gestational age of other embryos or fetuses of the same size. If the gestational age as calculated from an early ultrasound is contradictory to the one calculated directly from the last menstrual period, it is still the one from the early ultrasound that is used for the rest of the pregnancy.

- In case of in vitro fertilization, calculating days since oocyte retrieval or co-incubation and adding 14 days.

If tubal factor infertility is suspected to be the cause of the infertility treatment begins with or without confirmation of infection because of complications that may result from delayed treatment. Appropriate treatment depends on the infectious agent and utilizes antibiotic therapy. Treating the sexual partner for possible STIs helps in treatment and prevents reinfection.

Antibiotic administration affects the short or long-term major outcome of women with mild or moderate disease.

For women with infections of mild to moderate severity, parenteral and oral therapies are prescribed . Typical antibiotics used are cefoxitin or cefotetan plus doxycycline, and clindamycin plus gentamicin. An alternative parenteral regimen is ampicillin/sulbactam plus doxycycline. Once infection has been eliminated, surgery may be successful in opening the lumen of the fallopian tubes to allow a successful pregnancy and birth.

Diagnosis of infertility begins with a medical history and physical exam. The healthcare provider may order tests, including the following:

- Lab tests

- hormone testing, to measure levels of female hormones at certain times during a menstrual cycle

- day 2 or 3 measure of FSH and estrogen, to assess ovarian reserve

- measurements of thyroid function (a thyroid stimulating hormone (TSH) level of between 1 and 2 is considered optimal for conception)

- measurement of progesterone in the second half of the cycle to help confirm ovulation

- Anti-Müllerian hormone to estimate ovarian reserve.

- Examination and imaging

- an endometrial biopsy, to verify ovulation and inspect the lining of the uterus

- laparoscopy, which allows the provider to inspect the pelvic organs

- fertiloscopy, a relatively new surgical technique used for early diagnosis (and immediate treatment)

- Pap smear, to check for signs of infection

- pelvic exam, to look for abnormalities or infection

- a postcoital test, which is done soon after intercourse to check for problems with sperm surviving in cervical mucous (not commonly used now because of test unreliability)

- Hysterosalpingography or sonosalpingography, to check for tube patency

- Sonohysterography to check for uterine abnormalities.

There are genetic testing techniques under development to detect any mutation in genes associated with female infertility.

Initial diagnosis and treatment of infertility is usually made by obstetrician/gynecologists or women's health nurse practitioners. If initial treatments are unsuccessful, referral is usually made to physicians who are fellowship trained as reproductive endocrinologists. Reproductive endocrinologists are usually obstetrician/gynecologists with advanced training in reproductive endocrinology and infertility (in North America). These physicians treat reproductive disorders affecting not only women but also men, children, and teens.

Usually reproductive endocrinology & infertility medical practices do not see women for general maternity care. The practice is primarily focused on helping their women to conceive and to correct any issues related to recurring pregnancy loss.

Obstetric ultrasonography can detect fetal abnormalities, detect multiple pregnancies, and improve gestational dating at 24 weeks. The resultant estimated gestational age and due date of the fetus are slightly more accurate than methods based on last menstrual period. Ultrasound is used to measure the nuchal fold in order to screen for Downs syndrome.

Fertility options for girls and women with Rokitansky-Mayer-Küster-Hauser syndrome has a bit more information. Girls and women who are born without a complete vagina, but still have a regular sized uterus more than likely will be able to become pregnant and have a baby. However, if the female is born with a tiny uterus, or without a uterus, they will not be able to have a baby. As the ovaries may be normal in this case, the egg may be fertilized with a donor's or partner's sperm. In this case, surrogacy, would be an option where there will be a gestational carrier to carry the pregnancy for the couple. Adoption may also be an option for females with Rokitansky-Mayer-Küster-Hauser syndrome. Another possibility could be uterine transplants, however this a new and developing form of treatment. Fertility options are being researched daily, so there can always be a new method available.

Any pain associated with Rokitansky-Mayer-Küster-Hauser syndrome comes from menstruation related cramping and can be treated with several ways. Individuals with this syndrome may be born with a uterine remnant (tiny uterus), which can fill with become filled with blood in the pelvic cavity causing pain. A medical professional can assess the severity of having a uterine remnant within each patient to determine if removal of the uterus is necessary.

Regular testing for sexually transmitted infections is encouraged for prevention. The risk of contracting pelvic inflammatory disease can be reduced by the following:

- Using barrier methods such as condoms; see human sexual behavior for other listings.

- Seeking medical attention if you are experiencing symptoms of PID.

- Using hormonal combined contraceptive pills also helps in reducing the chances of PID by thickening the cervical mucosal plug & hence preventing the ascent of causative organisms from the lower genital tract.

- Seeking medical attention after learning that a current or former sex partner has, or might have had a sexually transmitted infection.

- Getting a STI history from your current partner and strongly encouraging they be tested and treated before intercourse.

- Diligence in avoiding vaginal activity, particularly intercourse, after the end of a pregnancy (delivery, miscarriage, or abortion) or certain gynecological procedures, to ensure that the cervix closes.

- Reducing the number of sexual partners.

- Sexual monogamy.

- Abstinence

Over one million cases of acute salpingitis are reported every year in the US, but the number of incidents is probably larger, due to incomplete and untimely reporting methods and that many cases are reported first when the illness has gone so far that it has developed chronic complications. For women age 16–25, salpingitis is the most common serious infection. It affects approximately 11% of females of reproductive age.

Salpingitis has a higher incidence among members of lower socioeconomic classes. However, this is thought of being an effect of earlier sex debut, multiple partners, and decreased ability to receive proper health care rather than any independent risk factor for salpingitis.

As an effect of an increased risk due to multiple partners, the prevalence of salpingitis is highest for people age 15–24 years. Decreased awareness of symptoms and less will to use contraceptives are also common in this group, raising the occurrence of salpingitis.

A number of other causes may produce similar symptoms including appendicitis, ectopic pregnancy, hemorrhagic or ruptured ovarian cysts, ovarian torsion, and endometriosis and gastroenteritis, peritonitis, and bacterial vaginosis among others.

Pelvic inflammatory disease is more likely to reoccur when there is a prior history of the infection, recent sexual contact, recent onset of menses, or an IUD (intrauterine device) in place or if the partner has a sexually transmitted infection.

Acute pelvic inflammatory disease is highly unlikely when recent intercourse has not taken place or an IUD is not being used. A sensitive serum pregnancy test is typically obtained to rule out ectopic pregnancy. Culdocentesis will differentiate hemoperitoneum (ruptured ectopic pregnancy or hemorrhagic cyst) from pelvic sepsis (salpingitis, ruptured pelvic abscess, or ruptured appendix).

Pelvic and vaginal ultrasounds are helpful in the diagnosis of PID. In the early stages of infection, the ultrasound may appear normal. As the disease progresses, nonspecific findings can include free pelvic fluid, endometrial thickening, uterine cavity distension by fluid or gas. In some instances the borders of the uterus and ovaries appear indistinct. Enlarged ovaries accompanied by increased numbers of small cysts correlates with PID.

Laparoscopy is infrequently used to diagnose pelvic inflammatory disease since it is not readily available. Moreover, it might not detect subtle inflammation of the fallopian tubes, and it fails to detect endometritis. Nevertheless, laparoscopy is conducted if the diagnosis is not certain or if the person has not responded to antibiotic therapy after 48 hours.

No single test has adequate sensitivity and specificity to diagnose pelvic inflammatory disease. A large multisite U.S. study found that cervical motion tenderness as a minimum clinical criterion increases the sensitivity of the CDC diagnostic criteria from 83 percent to 95 percent. However, even the modified 2002 CDC criteria do not identify women with subclinical disease.

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).

Prognosis in unexplained infertility depends on many factors, but can roughly be estimated by e.g. the

Hunault model, which takes into account female age, duration of infertility/subfertility, infertility/subfertility being primary or secondary, percentage of motile sperm and being referred by a general practitioner or gynecologist.

Salpingitis may be diagnosed by pelvic examination, blood tests, and/or a vaginal or cervical swab.

Cases of GTD can be diagnosed through routine tests given during pregnancy, such as blood tests and ultrasound, or through tests done after miscarriage or abortion. Vaginal bleeding, enlarged uterus, pelvic pain or discomfort, and vomiting too much (hyperemesis) are the most common symptoms of GTD. But GTD also leads to elevated serum hCG (human chorionic gonadotropin hormone). Since pregnancy is by far the most common cause of elevated serum hCG, clinicians generally first suspect a pregnancy with a complication. However, in GTD, the beta subunit of hCG (beta hCG) is also always elevated. Therefore, if GTD is clinically suspected, serum beta hCG is also measured.

The initial clinical diagnosis of GTD should be confirmed histologically, which can be done after the evacuation of pregnancy (see «Treatment» below) in women with hydatidiform mole. However, malignant GTD is highly vascular. If malignant GTD is suspected clinically, biopsy is contraindicated, because biopsy may cause life-threatening haemorrhage.

Women with persistent abnormal vaginal bleeding after any pregnancy, and women developing acute respiratory or neurological symptoms after any pregnancy, should also undergo hCG testing, because these may be signs of a hitherto undiagnosed GTD.

No treatments for luteomas are currently available. The luteomas can be detected through ultrasound if masculinization is apparent in the mother. The fetus can be tested for gene type and if the fetus is female and the umbilical cord tests high for testosterone levels then the risks of masculinization of the fetus can be considered. Interventions can't be made to change the outcomes, but the potential risks can be analyzed in order to make preparations. After the fetus is delivered the luteoma regresses on its own and only monitoring of the mother is needed after delivery. Depending on the sex of the fetus, exposure time and duration, the parents may need to decide if they will raise the child as male or female. Surgery may be necessary depending on what sex the child is going to be raised.

The exact incidence of maternal mortality related to placenta accreta and its complications is unknown, but has been reported to be as high as 6-7% in case series and surveys.

Most women with GTD can become pregnant again and can have children again. The risk of a further molar pregnancy is low. More than 98% of women who become pregnant following a molar pregnancy will not have a further hydatidiform mole or be at increased risk of complications.

In the past, it was seen as important not to get pregnant straight away after a GTD. Specialists recommended a waiting period of 6 months after the hCG levels become normal. Recently, this standpoint has been questioned. New medical data suggest that a significantly shorter waiting period after the hCG levels become normal is reasonable for approximately 97% of the patients with hydatidiform mole.

Treatment depends on the cause of infertility, but may include counselling, fertility treatments, which include in vitro fertilization. According to ESHRE recommendations, couples with an estimated live birth rate of 40% or higher per year are encouraged to continue aiming for a spontaneous pregnancy. Treatment methods for infertility may be grouped as medical or complementary and alternative treatments. Some methods may be used in concert with other methods. Drugs used for both women and men include clomiphene citrate, human menopausal gonadotropin (hMG), follicle-stimulating hormone (FSH), human chorionic gonadotropin (hCG), gonadotropin-releasing hormone (GnRH) analogues, aromatase inhibitors, and metformin.

Pseudocyesis is not known to have a direct underlying physical cause and there are no general recommendations regarding treatment with medications. In some cases, however, the patient may be given medications for such symptoms as the cessation of menstruation. When some patients with pseudocyesis have underlying psychological problems, they should be referred to a psychotherapist for the treatment of these problems. It is important at the same time, however, for the treating professional not to minimize the reality of the patient's physical symptoms. The treatment that has had the most success is demonstrating to the patient that she is not really pregnant by the use of ultrasound or other imaging techniques.

Examples of congenital abnormalities of the reproductive system include:

- Kallmann syndrome - Genetic disorder causing decreased functioning of the sex hormone-producing glands caused by a deficiency or both testes from the scrotum.

- Androgen insensitivity syndrome - A genetic disorder causing people who are genetically male (i.e. XY chromosome pair) to develop sexually as a female due to an inability to utilize androgen.

- Intersexuality - A person who has genitalia and/or other sexual traits which are not clearly male or female.