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Presented by Dr. Andres Matoso and prepared by Dr. Monica Butcher
Adult female with intra-abdominal mass
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Adult female with intra-abdominal mass
Diagnosis:
Correct
Correct: D
Histology: Immature testicular tissue with nests of immature seminiferous tubules within rete testis and tunica albuginea. There are scattered germ cells located within seminiferous tubules but there is no active spermatogenesis.
Discussion: Failure of normal embryonic development in the originally bi-potential gonad may result in a more-or-less aberrant postnatal testis or ovary. The resulting group of conditions, which are characterized by a varying degree of abnormally configured or differentiated gonads, is referred to as gonadal dysgenesis (GD). In complete gonadal dysgenesis (CGD), the ordinary tissue arrangement of the gonad is entirely lost, while it is retained to some extent in partial gonadal dysgenesis (PGD). One of the most characteristic histological findings of dysgenetic testis is that instead of well collagenized tunica albuginea, the dysgenetic testis shows poorly collagenized tunica featuring ovarian like stroma or with entrapped seminiferous tubules. Gonadal dysgenesis may occur unilaterally or bilaterally, when respectively one or both gonads are affected to a greater or lesser extent. In 46,XY CGD, the lack of hormonal function affects the development of internal and external genitalia, resulting in a female phenotype. Individuals with GD have a particular high risk for germ cell malignancy, with reported risks varying between 8 and 54%, making early diagnosis particularly relevant. The use of immunohistochemistry for the detection of germ cells at different stages of development, and in particular germ cell malignancy and its precursor lesions, is common but could lead to interpretation problems in cases of gonadal dysgenesis. One of these germ-cell-specific markers, the transcription factor OCT4, is not restricted to malignant germ cells, as it is an embryonic marker that is expressed during gestation and usually detectable until late-fetal or early postnatal life. Prolonged expression of OCT4 in otherwise normal looking germ cells after the age of 6 months is regularly observed in the context of dysgenetic testis, and should be interpreted as a delay in maturation if a linear arrangement of germ cells with atypia seen in germ cell neoplasia in situ is not present.
References:
1. Pediatric and Developmental Pathology 18, 259–278, 2015Incorrect
Correct: D
Histology: Immature testicular tissue with nests of immature seminiferous tubules within rete testis and tunica albuginea. There are scattered germ cells located within seminiferous tubules but there is no active spermatogenesis.
Discussion: Failure of normal embryonic development in the originally bi-potential gonad may result in a more-or-less aberrant postnatal testis or ovary. The resulting group of conditions, which are characterized by a varying degree of abnormally configured or differentiated gonads, is referred to as gonadal dysgenesis (GD). In complete gonadal dysgenesis (CGD), the ordinary tissue arrangement of the gonad is entirely lost, while it is retained to some extent in partial gonadal dysgenesis (PGD). One of the most characteristic histological findings of dysgenetic testis is that instead of well collagenized tunica albuginea, the dysgenetic testis shows poorly collagenized tunica featuring ovarian like stroma or with entrapped seminiferous tubules. Gonadal dysgenesis may occur unilaterally or bilaterally, when respectively one or both gonads are affected to a greater or lesser extent. In 46,XY CGD, the lack of hormonal function affects the development of internal and external genitalia, resulting in a female phenotype. Individuals with GD have a particular high risk for germ cell malignancy, with reported risks varying between 8 and 54%, making early diagnosis particularly relevant. The use of immunohistochemistry for the detection of germ cells at different stages of development, and in particular germ cell malignancy and its precursor lesions, is common but could lead to interpretation problems in cases of gonadal dysgenesis. One of these germ-cell-specific markers, the transcription factor OCT4, is not restricted to malignant germ cells, as it is an embryonic marker that is expressed during gestation and usually detectable until late-fetal or early postnatal life. Prolonged expression of OCT4 in otherwise normal looking germ cells after the age of 6 months is regularly observed in the context of dysgenetic testis, and should be interpreted as a delay in maturation if a linear arrangement of germ cells with atypia seen in germ cell neoplasia in situ is not present.
References:
1. Pediatric and Developmental Pathology 18, 259–278, 2015
