GCNIS is seen in the following settings:

- Almost all invasive germ cell tumours of the testis in adults

- Fifty percent of patients with GCNIS developed invasive germ cell tumours within five years of initial diagnosis.

- Five percent of contralateral testes in men with a history of prior testicular germ cell tumour.

- Less than five percent of cryptorchid testes.

- Less than one percent of patients with infertility.

Not all germ cell tumors (GCTs) arise from "intratubular germ cell neoplasia". The following testicular GCTs do not arise from ITGCN:

- Spermatocytic seminoma

- Pediatric Yolk sac tumors (endodermal sinus tumour). This is currently an area of controversy as some authors dispute the absence of ITGCN in these cases.

- Teratoma (rare exceptions)

The majority of Leydig cell tumors are found in males, usually at 5–10 years of age or in middle adulthood (30–60 years). Children typically present with precocious puberty. Due to excess testosterone secreted by the tumour, one-third of female patients present with a recent history of progressive masculinization. Masculinization is preceded by anovulation, oligomenorrhea, amenorrhea and "defeminization". Additional signs include acne and hirsutism, voice deepening, clitoromegaly, temporal hair recession, and an increase in musculature. Serum testosterone level is high.

In men testicular swelling is the most common presenting feature. Other symptoms depend on their age and the type of tumour. If it is secreting androgens the tumour is usually asymptomatic, but can cause precocious puberty in pre-pubertal boys. If the tumour secretes oestrogens it can cause feminisation in young boys. In adults, this causes a number of problems including gynaecomastia, erectile dysfunction, infertility, feminine hair distribution, gonadogenital atrophy, and a loss of libido.

The average age of diagnosis is between 15 and 35 years. This is about 5 to 10 years older than men with other germ cell tumors of the testes. In most cases, they produce masses that are readily felt on testicular self-examination; however, in up to 11 percent of cases, there may be no mass able to be felt, or there may be testicular atrophy. Testicular pain is reported in up to one fifth of cases. Low back pain may occur after metastasis to the retroperitoneum.

Some cases of seminoma can present as a primary tumour outside the testis, most commonly in the mediastinum. In the ovary, the tumor is called a dysgerminoma, and in non-gonadal sites, particularly the central nervous system, it is called a germinoma.

Due to excess testosterone secreted by the tumour, one-third of female patients present with a recent history of progressive masculinization. Masculinization is preceded by anovulation, oligomenorrhoea, amenorrhoea and defeminization. Additional signs include acne and hirsutism, voice deepening, clitoromegaly, temporal hair recession, and an increase in musculature. Serum testosterone level is high.

The tumour is subdivided into many different subtypes. The most typical is composed of tubules lined by Sertoli cells and interstitial clusters of Leydig cells.

Spermatocytic seminoma is a rare tumour, making up only one to two percent of all testicular germ cell tumours. Men presenting with this tumour are generally 50 to 60 years old, and its occurrence is rare in men under 30 years old. Most present with slow, painless testicular enlargement, which may involve both testes.

In the ovary, embryonal carcinoma is quite rare, amounting to approximately three percent of ovarian germ cell tumours. The median age at diagnosis is 15 years. Symptoms and signs are varied, and may include sexual precocity and abnormal (increased, reduced or absent) uterine bleeding.

There may be elevations in serum human chorionic gonadotropin (hCG) and alpha fetoprotein (AFP) levels but it would be in association with other tumors, (e.g. yolk sac tumor) because they themselves do not produce the serum markers. At surgery, there is extension of the tumour beyond the ovary in forty percent of cases. They are generally large, unilateral tumours, with a median diameter of 17 centimetres. Long-term survival has improved following the advent of chemotherapy. The gross and histologic features of this tumour are similar to that seen in the testis.

Sertoli cell tumours typically present as a testicular mass or firmness, and their presence may be accompanied by gynaecomastia (25%) if they produce oestrogens, or precocious pseudopuberty in young boys, especially if they produce androgens.

In the testis pure embryonal carcinoma is also uncommon, and accounts for approximately ten percent of testicular germ cell tumours. However, it is present as a component of almost ninety percent of mixed nonseminomatous germ cell tumours. The average age at diagnosis is 31 years, and typically presents as a testicular lump which may be painful. One fifth to two thirds of patients with tumours composed predominantly of embryonal carcinoma have metastases at diagnosis.

Despite their name, germ cell tumors occur both within and outside the ovary and testis.

- head

- inside the cranium — pineal and suprasellar locations are most commonly reported

- inside the mouth — a fairly common location for teratoma

- neck

- mediastinum — account for 1% to 5% of all germ cell neoplasms

- pelvis, particularly sacrococcygeal teratoma

- ovary

- testis

In females, germ cell tumors account for 30% of ovarian tumors, but only 1 to 3% of ovarian cancers in North America. In younger women germ cell tumors are more common, thus in patients under the age of 21, 60% of ovarian tumors are of the germ cell type, and up to one-third are malignant. In males, germ cell tumors of the testis occur typically after puberty and are malignant (testicular cancer). In neonates, infants, and children younger than 4 years, the majority of germ cell tumors are sacrococcygeal teratomas.

Males with Klinefelter syndrome have a 50 times greater risk of germ cell tumors (GSTs). In these persons, GSTs usually contain nonseminomatous elements, present at an earlier age, and seldom are gonadal in location.

Leydig cell tumour, also Leydig cell tumor (US spelling), (testicular) interstitial cell tumour and (testicular) interstitial cell tumor (US spelling), is a member of the sex cord-stromal tumour group of ovarian and testicular cancers. It arises from Leydig cells. While the tumour can occur at any age, it occurs most often in young adults.

A Sertoli-Leydig cell tumour is a combination of a Leydig cell tumour and a Sertoli cell tumour from Sertoli cells.

A germ cell tumor (GCT) is a neoplasm derived from germ cells. Germ cell tumors can be cancerous or non-cancerous tumors. Germ cells normally occur inside the gonads (ovary and testis). Germ cell tumors that originate outside the gonads may be birth defects resulting from errors during development of the embryo.

Seminoma (also known as "pure seminoma" or "classical seminoma") is a germ cell tumor of the testicle or, more rarely, the mediastinum or other extra-gonadal locations. It is a malignant neoplasm and is one of the most treatable and curable cancers, with a survival rate above 95% if discovered in early stages.

Testicular seminoma originates in the germinal epithelium of the seminiferous tubules. About half of germ cell tumors of the testicles are seminomas. Treatment usually requires removal of one testicle. However, fertility usually isn't affected. All other sexual functions will remain intact.

Sex cord–gonadal stromal tumour (or sex cord–stromal tumour) is a group of tumors derived from the stromal component of the ovary and testis, which comprises the granulosa, thecal cells and fibrocytes. In contrast, the epithelial cells originate from the outer epithelial lining surrounding the gonad while the germ cell tumors arise from the precursor cells of the gametes, hence the name germ cell. In humans, this group accounts for 8% of ovarian cancers and under 5% of testicular cancers. Their diagnosis is histological: only a biopsy of the tumour can make an exact diagnosis. They are often suspected of being malignant prior to operation, being solid ovarian tumours that tend to occur most commonly in post menopausal women.

This group of tumours is significantly less common than testicular germ cell tumours in men, and slightly less common than ovarian germ cell tumours in women (see Ovarian cancer).

Spermatocytic seminoma is not considered a subtype of seminoma and, unlike seminoma and most other germ cell tumours, it does not arise from "intratubular germ cell neoplasia". It has not been described as arising in locations outside the testis, and does not occur in association with other germ cell tumours.

The new WHO classification, due to be published in 2016, will rename the condition spermatocytic tumour to avoid confusion with classical seminoma as the biology and treatment are different.

They are exceptionally associated with hypercalcemia. On gross examination, dysgerminomas present with a smooth, bosselated (knobby) external surface, and is soft, fleshy and either cream-coloured, gray, pink or tan when cut. Microscopic examination typically reveals uniform cells that resemble primordial germ cells. Typically, the stroma contains lymphocytes and about 20% of patients have sarcoid-like granulomas.

Metastases are most often present in the lymph nodes.

These tumours are of the following types, characterized by their abnormal production of otherwise apparently normal cells or tissues.

Although each of the cell and tissue types normally occurs in just one sex (male or female), within a tumour they can occur in the opposite sex. Consequently, depending on the specific histology produced, these tumours can cause virilization in women and feminization in men.

A Sertoli cell tumour, also Sertoli cell tumor (US spelling), is a sex cord-gonadal stromal tumor of a Sertoli cells. They are very rare and generally peak between the ages of 35 and 50. They are typically well-differentiated, and are commonly misdiagnosed as seminomas as they often appear very similar.

A tumor that produces both Sertoli cells and Leydig cells is known as a Sertoli-Leydig cell tumor.

A dysgerminoma is a type of germ cell tumor; it usually is malignant and usually occurs in the ovary.

A tumor of the identical histology but not occurring in the ovary may be described by an alternate name: seminoma in the testis or germinoma in the central nervous system or other parts of the body.

Dysgerminoma accounts for less than 1% of ovarian tumors overall. Dysgerminoma usually occurs in adolescence and early adult life; about 5% occur in pre-pubertal children. Dysgerminoma is extremely rare after age 50. Dysgerminoma occurs in both ovaries in 10% of patients and, in a further 10%, there is microscopic tumor in the other ovary.

Abnormal gonads (due to gonadal dysgenesis and androgen insensitivity syndrome) have a high risk of developing a dysgerminoma. Most dysgerminomas are associated with elevated serum lactic dehydrogenase (LDH), which is sometimes used as a tumor marker.

Unlike benign germ cell tumors of the mediastinum, malignant mediastinal tumors are usually symptomatic at the time of diagnosis. Most mediastinal malignant tumors are large and cause symptoms by compressing or invading adjacent structures, including the lungs, pleura, pericardium, and chest wall.

Seminomas grow relatively slowly and can become very large before causing symptoms. Tumors 20 to 30 cm in diameter can exist with minimal symptomatology.

Mediastinal germ cell tumors are tumors that derive from germ cell rest remnants in the mediastinum. They most commonly occur in the gonad but occasionally elsewhere.

Benign tumors of the ovary include ovarian cysts, such as borderline tumor cysts.

Polyembryoma is a rare, very aggressive form of germ cell tumor usually found in the ovaries. Polyembryoma has features of both yolk sac tumour and undifferentiated teratoma/embryonal carcinoma, with a characteristic finding of embryoid bodies lying in a loose mesenchymal stroma.

It has been found in association with Klinefelter syndrome.

An immature teratoma is a rare type of malignant (cancerous) germ cell tumor (type of tumor that begins in the cells that give rise to sperm or eggs).

Like a mature teratoma, it contains several different types of tissue such as hair, muscle, and bone. Unlike a mature teratoma, it contains primitive neuroepithelium.