Diagnosis is made by imaging/sonography and thyroid hormone tests.

The syndrome usually responds well to thyroid hormone replacement with complete resolution of symptoms.

Diagnosis is usually made by ultrasonography showing a solid ovarian lesion, or, on some occasions, mixed tumors with solid and cystic components. Computed tomography and magnetic resonance imaging can also be used to diagnose fibromas.

In a series of 16 patients, 5 (28%) showed elevated levels of CA-125.

The prognosis is poor. Patients are usually wheelchair bound by their 20s and die by their 30s.

The consequences to the girl with XX gonadal dysgenesis:

1. Her gonads cannot make estrogen, so her breasts will not develop and her uterus will not grow and menstruate until she is given estrogen. This is often given through the skin now.

2. Her gonads cannot make progesterone, so her menstrual periods will not be predictable until she is given a progestin, still usually as a pill.

3. Her gonads cannot produce eggs so she will not be able to conceive children naturally. A woman with a uterus but no ovaries may be able to become pregnant by implantation of another woman's fertilized egg (embryo transfer).

Identification of 45,X/46,XY karyotype has significant clinical implications due to known effects on growth, hormonal balance, gonadal development and histology. 45,X/46,XY is diagnosed by examining the chromosomes in a blood sample.

The age of diagnosis varies depending on manifestations of disease prompting reason for cytogenetic testing. Many patients are diagnosed prenatally due to fetal factors (increased nuchal fold, or abnormal levels of serum), maternal age or abnormal ultrasounds, while others will be diagnosed postnatal due to external genital malformation. It is not uncommon for patients to be diagnosed later in life due to short stature or delayed puberty, or a combination of both.

45,X/46,XY mosaicism can be detected prenatally through amniocentesis however, it was determined that the proportion of 45,X cells in the amniotic fluid cannot predict any phenotypic outcomes, often making prenatal genetic counselling difficult.

There is currently no cure, but some symptoms may be treated such as neuroleptics for the psychiatric problems.

A 1994 review of 150 cases reported in the literature found that 38% had died with a mean age of death of 2 years. 32% were still alive at the time of the report with a mean age of 4.65. No data were available for the remainder. The author described living with DDS as "walking a multidimensional tight rope".

The incidence of ovarian remnant syndrome is difficult to determine. The available data are limited to case reports or to retrospective case series. The best available data are from a study describing the frequency and outcome of laparoscopy in women with chronic pelvic pain and/or a pelvic mass who were found to have ovarian remnants. In 119 women who underwent hysterectomy and oophorectomy by laparoscopy, ovarian remnants were known in 5 and were found during surgery in 21 patients (18%).[2] However, this was a small study and the participants were only symptomatic women. Therefore, it is not known whether the data can be extrapolated to include all women who have undergone oophorectomy.

Surgical exploration and of possible ovarian tissue is required for the definitive diagnosis of ORS, and treatment by excision of the remnant ovarian tissue may be performed during the same procedure. For women who are not candidates for surgery, a clinical diagnosis can be made based on the symptoms and levels (follicle-stimulating hormone and estradiol, after bilateral oophorectomy) and/or findings consistent with the presence of residual ovarian tissue. Laparoscopy and histological assessment can aid in diagnosis.

There is no simple and reliable way to test for ovarian cancer in women who do not have any signs or symptoms. The Pap test does not screen for ovarian cancer.

Screening is not recommended in women who are at average risk, as evidence does not support a reduction in death and the high rate of false positive tests may lead to unneeded surgery, which is accompanied by its own risks.

Ovarian cancer is usually only palpable in advanced stages. Screening is not recommended using CA-125 measurements, HE4 levels, ultrasound, or adnexal palpation in women who are at average risk. Risk of developing ovarian cancer in those with genetic factors can be reduced. Those with a genetic predisposition may benefit from screening. This high risk group has benefited with earlier detection.

Ovarian cancer has low prevalence, even in the high-risk group of women from the ages of 50 to 60 (about one in 2000), and screening of women with average risk is more likely to give ambiguous results than detect a problem which requires treatment. Because ambiguous results are more likely than detection of a treatable problem, and because the usual response to ambiguous results is invasive interventions, in women of average risk, the potential harms of having screening without an indication outweigh the potential benefits. The purpose of screening is to diagnose ovarian cancer at an early stage, when it is more likely to be treated successfully.

Screening with transvaginal ultrasound, pelvic examination, and CA-125 levels can be used instead of preventative surgery in women who have BRCA1 or BRCA2 mutations. This strategy has shown some success.

Usually the lesion is surgically removed. Primarily, there is concern that the lesion identified in a patient could be cancerous, but there is also the risk of torsion, and possibly the development of symptoms. A stable lesion, however, could be clinically followed.

Transvaginal ultrasonography can be used to determine antral follicle count (AFC). This is an easy-to-perform and noninvasive method (but there may be some discomfort). Several studies show this test to be more accurate than basal FSH testing for older women (< 44 years of age) in predicting IVF outcome. This method of determining ovarian reserve is recommended by Dr. Sherman J. Silber, author and medical director of the Infertility Center of St. Louis.

AFC and Median Fertile Years Remaining

Note, the above table from Silber's book may be in error as it has no basis in any scientific study, and contradicts data from Broekmans, et al. 2004 study. The above table closely matches Broekmans' data only if interpreted as the total AFC of both ovaries. Only antral follicles that were 2–10 mm in size were counted in Broekmans' study.

Age and AFC and Age of Loss of Natural Fertility (See Broekmans, et al. [2004])

AFC and FSH Stimulation Recommendations for Cycles Using Assisted Reproduction Technology

Ovarian torsion is difficult to diagnose accurately, and operation is often performed before certain diagnosis is made. A study at an obstetrics and gynaecology department found that preoperative diagnosis of ovarian torsion was confirmed in only 46% of people.

The diagnosis is based on the combination of unusual facial features and the dysplastic or absent femurs.

Diagnosis may be made antenatally.

Gynecologic ultrasonography is the imaging modality of choice. Use of doppler ultrasound in the diagnosis has been suggested. However, doppler flow is not always absent in torsion – the definitive diagnosis is often made in the operating room.

Lack of ovarian blood flow on doppler sonography seems to be a good predictor of ovarian torsion. Women with pathologically low flow are more likely to have OT (77% vs. 29% in a study). The sensitivity and specificity of abnormal ovarian flow for OT are 44% and 92%, respectively, with a positive and negative predictive value of 78% and 71%, respectively. Specific flow features on Doppler sonography include:

- Little or no intra-ovarian venous flow. This is commonly seen in ovarian torsion.

- Absent arterial flow. This is a less common finding in ovarian torsion

- Absent or reversed diastolic flow

Normal vascularity does not exclude intermittent torsion. There may occasionally be normal Doppler flow because of the ovary's dual blood supply from both the ovarian arteries and uterine arteries.

Other ultrasonographic features include:

- Enlarged hypoechogenic or hyperechogenic ovary

- Peripherally displaced ovarian follicles

- Free pelvic fluid. This may be seen in more than 80% of cases

- "Whirlpool sign" of twisted vascular pedicle

- Underlying ovarian lesion can often be found

- Uterus may be slightly deviated towards the torted ovary.

Because of the inability of the streak gonads to produce sex hormones (both estrogens and androgens), most of the secondary sex characteristics do not develop. This is especially true of estrogenic changes such as breast development, widening of the pelvis and hips, and menstrual periods. Because the adrenal glands can make limited amounts of androgens and are not affected by this syndrome, most of these girls will develop pubic hair, though it often remains sparse.

Evaluation of delayed puberty usually reveals the presence of pubic hair, but elevation of gonadotropins, indicating that the pituitary is providing the signal for puberty but the gonads are failing to respond. The next steps of the evaluation usually include checking a karyotype and imaging of the pelvis. The karyotype reveals XX chromosomes and the imaging demonstrates the presence of a uterus but no ovaries (the streak gonads are not usually seen by most imaging). At this point it is usually possible for a physician to make a diagnosis of XX gonadal dysgenesis.

A retrospective study of 83 women with sex cord–stromal tumours (73 with granulosa cell tumour and 10 with Sertoli-Leydig cell tumour), all diagnosed between 1975 and 2003, reported that survival was higher with age under 50, smaller tumour size, and absence of residual disease. The study found no effect of chemotherapy. A retrospective study of 67 children and adolescents reported some benefit of cisplatin-based chemotherapy.

Bamforth–Lazarus syndrome is a genetic condition that results in thyroid dysgenesis. It is due to recessive mutations in forkhead/winged-helix domain transcription factor ("FKLH15" or "TTF2").

It is associated with "FOXE1".

Elevated serum follicle stimulating hormone (FSH) level measured on day three of the menstrual cycle. (First day of period flow is counted as day one. Spotting is not considered start of period.) If a lower value occurs from later testing, the highest value is considered the most predictive. FSH assays can differ somewhat so reference ranges as to what is normal, premenopausal or menopausal should be based on ranges provided by the laboratory doing the testing. Estradiol (E2) should also be measured as women who ovulate early may have elevated E2 levels above 80 pg/mL (due to early follicle recruitment, possibly due to a low serum inhibin B level) which will mask an elevated FSH level and give a false negative result.

High FSH strongly predicts poor IVF response in older women, less so in younger women. One study showed an elevated basal day-three FSH is correlated with diminished ovarian reserve in women aged over 35 years and is associated with poor pregnancy rates after treatment of ovulation induction(6% versus 42%).

The rates for spontaneous pregnancy in older women with elevated FSH levels have not been studied very well and the spontaneous pregnancy success rate, while low, may be underestimated due to non reporting bias, as most infertility clinics will not accept women over the age of forty with FSH levels in the premenopausal range or higher.

A woman can have a normal day-three FSH level yet still respond poorly to ovarian stimulation and hence can be considered to have poor reserve. Thus, another FSH-based test is often used to detect poor ovarian reserve: the clomid challenge test, also known as CCCT(clomiphene citrate challenge test).

A prospective study of ovarian sex cord–stromal tumours in children and adolescents began enrolling participants in 2005.

The diagnosis of cervical agenesis can be made by magnetic resonance imaging, which is used to determine the presence or absence of a cervix. Although MRI can detect the absence of a cervix (agenesis), it is unable to show cervical dysgenesis (where the cervix is present, but malformed). Ultrasound is a less reliable imaging study, but it is often the first choice by gynecologists to establish a diagnosis and can identify a hematometra secondary to cervical agenesis.

Gonadoblastomas can contain elements of both germ cells and gonadal stroma.

Formerly, gonadoblastoma was sometimes regarded as a subset of dysgerminoma. In modern literature, it is sometimes considered to progress to dysgerminoma.

Serum follicle-stimulating hormone (FSH) measurement alone can be used to diagnose the disease. Two FSH measurements with one-month interval have been a common practice. The anterior pituitary secretes FSH and LH at high levels due to the dysfunction of the ovaries and consequent low estrogen levels. Typical FSH in POF patients is over 40 mlU/ml (post-menopausal range).

Upon diagnosis, estrogen and progesterone therapy is typically commenced, promoting the development of female characteristics.

The consequences of streak gonads to a person with Swyer syndrome:

1. Gonads cannot make estrogen, so the breasts will not develop and the uterus will not grow and menstruate until estrogen is administered. This is often given transdermally.

2. Gonads cannot make progesterone, so menstrual periods will not be predictable until progestin is administered, usually as a pill.

3. Gonads cannot produce eggs so conceiving children naturally is not possible. A woman with a uterus and ovaries but without female gamete is able to become pregnant by implantation of another woman's fertilized egg (embryo transfer).

4. Streak gonads with Y chromosome-containing cells have a high likelihood of developing cancer, especially gonadoblastoma. Streak gonads are usually removed within a year or so of diagnosis since the cancer can begin during infancy.