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Pediatric Teratomas and Other Germ Cell Tumors Clinical Presentation

  • Author: E Stanton Adkins, III, MD; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
Updated: Apr 28, 2015


The clinical presentation of these tumors depends on the location of the tumor.

Sacrococcygeal teratomas may be diagnosed prenatally as an incidental ultrasonographic finding; they may occur in an infant who is large for age, is premature, or has fetal hydrops. Fetal hydrops is an ominous sign, typically due to high flow through the tumor with high-output cardiac failure and placentomegaly. A teratoma larger than 5 cm is likely to cause dystocia and possible rupture; elective cesarean delivery should be performed. Sacrococcygeal teratomas that are not diagnosed prenatally may be noted at delivery, within the first few weeks after birth, or discovered late.

Ovarian masses typically cause abdominal pain, mass, distention, or emesis. Two thirds of affected girls present with pain as their primary symptom. Acute and chronic pain occur with equal frequency. In situations of acute pain, the diagnosis is often related to torsion of the ovary with consequent compromise of the blood supply. Palpable masses are less frequent and appear later in the clinical course.

Testicular tumors typically occur as a scrotal mass with or without pain. The differential diagnosis may include hydrocele because some cystic teratomas may transilluminate. In some situations, the tumor may cause symptomatic metastasis; this is more common in older patients.

The distribution of the patients' age at presentation for testicular tumors is bimodal. In the youngest children (0-4 years), teratomatous lesions and yolk sac tumors are predominant. In children older than 10 years, teratomas are increasingly rare. Yolk sac tumors are still predominant, but other malignant germ cell types start to become clinically relevant.



The epidemiology of teratomas and germ cell tumors suggests that they are increasing in frequency. With sacrococcygeal teratomas, no causative agents are known. With respect to ovarian germ cell tumors, a familial predilection may be present. Cases in seven families have been reported in which female first-degree relatives had germ cell tumors. In an additional seven families, males had germ cell tumors. This observation suggests that certain genes may be present in these families, predisposing them to germ cell malignancy.

One study that examined the effect of diet on the development of ovarian tumors revealed that diets high in polyunsaturated fat were associated with the development of teratomas.[12] Likely, plant estrogens, and not the polyunsaturated fat, are associated with an increased tumor risk.

The risk factors and epidemiologic features of testicular cancer suggest that cryptorchidism increases the risk of germ cell tumor by a factor of 10. Tumors may appear in the ipsilateral or contralateral testicle. Hernia is similarly associated with germ cell tumors. One study also revealed that a history of pyloric stenosis leads to a fourfold risk of germ cell malignancy.[13] Boys whose father or brother has had a teratoma have a 5-15% increased risk for teratoma. Whether this is due to genetic causes or is a consequence of shared environment is unclear.

Disorders of sexual development (DSDs) have also been associated with development of germ cell tumors. Gonadoblastoma is observed in roughly one third of patients with DSDs. Although gonadoblastoma is a carcinoma in situ, it frequently evolves into dysgerminoma; yolk sac tumors, immature teratomas, and choriocarcinomas are possible as well.

Turner syndrome is similarly a risk factor for gonadoblastoma. Klinefelter syndrome has been linked with an increased risk of extragonadal malignant germ cell tumors. The highest risk seems to be among patients who carry some Y-chromosome genes in ectopic locations where they may not be normally regulated.

Children with DSDs are typically male pseudohermaphrodites with antigen insensitivity or 5-alpha reductase deficiency. These patients with testicular feminization are sometimes discovered serendipitously during a hernia repair.

Optimal timing for gonadal resection in these situations is a matter of debate. Gonadal estrogen production may benefit the patient in terms of growth and development. However, gonadoblastoma has been observed in patients as young as 2 months, and frank tumors have been observed in those younger than 2 years. The decision to leave or remove the gonads early should be made with the family after thorough discussion of these risks and potential benefits.

Contributor Information and Disclosures

E Stanton Adkins, III, MD Clinical Associate Professor, Departments of Pediatrics and Surgery, University of South Carolina School of Medicine

E Stanton Adkins, III, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Surgeons, American Medical Association, American Pediatric Surgical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Deborah F Billmire, MD Associate Professor, Department of Surgery, Indiana University Medical Center

Deborah F Billmire, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Surgeons, American Pediatric Surgical Association, Phi Beta Kappa, Society of Critical Care Medicine

Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA Executive Vice President, Chief Medical and Academic Officer, Renown Heath

Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American College of Healthcare Executives, American Society of Pediatric Hematology/Oncology, Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

Rebeccah Brown, MD Associate Director of Trauma Services, Associate Professor, Department of Clinical Surgery and Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati Hospital

Rebeccah Brown, MD is a member of the following medical societies: American College of Surgeons, American Medical Association, American Medical Womens Association

Disclosure: Nothing to disclose.

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Sacrococcygeal teratoma in a female neonate. This particular tumor is largely external with no intrapelvic extension.
This is an ovarian mixed germ cell tumor in a 13-year-old girl. This tumor caused right lower quadrant pain. It is largely cystic in composition. No calcifications are observed within the mass.
Ovarian yolk sac tumor at surgery.
Yolk sac tumor of the testis. The tumor is metastatic to the retroperitoneum. It encases the aorta and renal arteries. The vena cava and renal veins are displaced anteriorly by the mass.
Esophagram in an infant with massive thoracic germ cell tumor. Note how the esophagus is displaced posteriorly and laterally by the left mediastinal tumor.
Chest radiograph of the patient in Media file 5 after treatment with chemotherapy. The size of the tumor has not decreased.
CT scan of the chest in the patient in Media file 6. The carina is displaced posteriorly and to the right. The vena cava is displaced anteriorly, and the aorta is compressed between the mass and the spine.
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