Gonadoblastoma diagnostic study of choice

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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

There are no established criteria for the diagnosis of gonadoblastoma. It is often found during a workup for ambiguous genitalia in infancy or sexual developmental disorder in puberty. Any clue to the presence of an intersex gonadal abnormality (gonadal dysgenesis) should raise the concern for the coexisting gonadoblastoma. Chromosomal analysis plays the most beneficial role in the diagnosis of conditions associated with gonadoblastoma. It can be used as the screening test in the infants with external genitalia ambiguity and later in life for individuals suspected of intersex disorders. Since the presence of Y chromosomal content in individuals with dysgenetic gonads strongly suggests the development of gonadoblastoma in those with gonadal abnormalities, a karyotype analysis showing Y chromosome is helpful for diagnosis. However, sometimes the Y chromosome materials are present in molecular level and can not be diagnosed karyotypically. In theses individuals, molecular analysis of chromosomes using polymerase chain reaction (PCR) and/or fluorescence in situ hybridization (FISH) are suggested.

Diagnostic Study of Choice

Study of choice

[Name of the investigation] is the gold standard test for the diagnosis of [disease name].

OR

The following result of [gold standard test] is confirmatory of [disease name]:

• [Result 1]
• [Result 2]

OR

[Name of the investigation] must be performed when:

• The patient presents with [symptom/sign 1], [symptom/sign 2], and [symptom/sign 3].
• A [name of test] is positive for [sign 1], [sign 2], and [sign 3] in the patient.

OR

[Name of the investigation] is the gold standard test for the diagnosis of [disease name].

OR

The diagnostic study of choice for [disease name] is [name of the investigation].

OR

There is no single diagnostic study of choice for the diagnosis of [disease name].

OR

There is no single diagnostic study of choice for the diagnosis of [disease name], but [disease name] can be diagnosed based on [name of the investigation 1] and [name of the investigation 2].

OR

[Disease name] is primarily diagnosed based on the clinical presentation.

OR

Investigations:

• Among the patients who present with clinical signs of [disease name], the [investigation name] is the most specific test for the diagnosis.
• Among the patients who present with clinical signs of [disease name], the [investigation name] is the most sensitive test for diagnosis.
• Among the patients who present with clinical signs of [disease name], the [investigation name] is the most efficient test for diagnosis.

The comparison of various diagnostic studies for [disease name]

Test	Sensitivity	Specificity
Test 1	...%	...%
Test 2	...%	...%

[Name of test with higher sensitivity and specificity] is the preferred investigation based on the sensitivity and specificity

Diagnostic results

The following finding(s) on performing [investigation name] is(are) confirmatory for [disease name]:

• [Finding 1]
• [Finding 2]

Sequence of Diagnostic Studies

The [name of investigation] must be performed when:

• The patient presented with symptoms/signs 1, 2, and 3 as the first step of diagnosis.
• A positive [test] is detected in the patient, to confirm the diagnosis.

OR

The various investigations must be performed in the following order:

• [Initial investigation]
• [2nd investigation]

Name of Diagnostic Criteria

Gonadoblastoma is primarily diagnosed based on clinical presentation. There are no established criteria for the diagnosis of gonadoblastoma.