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==Risk Factors==
==Risk Factors==
The most potent [[risk factor]] in the development of gonadoblastoma is [[gonadal dysgenesis]]. The [[risk]] also increases with [[age]].


==Screening==
==Screening==

Revision as of 19:43, 20 February 2019

Gonadoblastoma Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]

Overview

Historical Perspective

Gonadoblastoma was first discovered by Dr. Scully in 1953. The association between GBY gene (GonadoBlastoma on the Y chromosome) and gonadoblastoma was made in 1986. In 1995, Tsuchiya found that the GBY gene located near the centromere of Y chromosome and contains multiple genes including Testis-specific protein Y-encoded (TSPY) gene.

Classification

Gonadoblastoma may be classified according to pathological appearance into three sub-types including classical, dissecting, and burnt-out.

Pathophysiology

The exact pathogenesis of gonadoblastoma is not fully understood. Gonadal development starts at 5 weeks of gestation and continues according to sex chromosomes. Any defects in this complicated process leads to defective gonadal development and gonadal dysgenesis and subsequently, it may be converted to gonadoblastoma in 20% to 30% of the cases.

Causes

There are no established causes for gonadoblastoma. However, there are certain risk factors that predispose to increased risk of gonadoblastoma.

Differentiating Xyz from Other Diseases

Gonadoblastoma must be differentiated from other diseases that cause virilization, and primary amenorrhea and also must be differentiated pathologically from dysgerminoma, Sex-cord stromal tumors, and Sertoli-cell nodules.

Epidemiology and Demographics

The prevalence of gonadoblastoma depends on the chromosomal content, presence or absence of mosaicism, gonadal histology, and age of the patient and varies between 15,000 to 30,000 per 100,000 individuals worldwide. The incidence of gonadoblastoma varies according to the presence or absence of Y chromosomal content and age of the individual. Patients with Turner syndrome who have Y chromosomal content either completely or partially may develop gonadoblastoma with an incidence as high as 43,000 per 100,000 individuals worldwide. The incidence of gonadoblastoma among phenotypical females with XY gonadal abnormalities have been observed to be 40,000 per 100,000 individuals worldwide. Gonadoblastoma may be found at any age, but commonly presents before the age of 15 years. Since, it usually affects individuals with gonadal dysgenesis, there is no genotype-phenotype correlation. Phenotypically, it tends to affect female individuals to a greater extent.

Risk Factors

The most potent risk factor in the development of gonadoblastoma is gonadal dysgenesis. The risk also increases with age.

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

X-ray

Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

References


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