PMC9797587_01
Microscopic view of the ovarian gonadoblastoma with coexisting dysgerminoma (x200). (A) A mixture of germ cells, elements of the sex cord, and hyaline bodies were placed in large nests and lobes. (B) Dysgerminoma component demonstrating positive nuclear staining for OCT4. (C) Dysgerminoma component demonstrating positive membranous staining for CD117. (D) Sex cord component demonstrating positive cytoplasmic staining for alpha-inhibin.
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The sex cord cells were arranged at the periphery of these nests ( Figure 1A ). The dysgerminoma component showed positive immunohistochemical staining (IHC) for OCT4 ( Figure 1B ), SALL4 and CD117 ( Figure 1C ). An alpha-inhibin IHC staining showed positivity in the component of the sex cord of the nests ( Figure 1D ).
Imaging examinations. (A) An abdominal CT scan revealed no apparent hyperplasia in the bilateral adrenal gland. (B) X-ray showed her bone age was 8 years old.
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An abdominal CT scan revealed no apparent hyperplasia in the bilateral adrenal gland ( Figure 2A ). Based on the X-ray, her bone age was 3 years younger than her actual age ( Figure 2B ).
Results of the sequencing of CYP17A1 gene and the pedigree of the patient's family. (A)The patient was homozygous for the pathogenic variant c.985_987delTACinsAA (p.Y329Kfs*90). The red rectangular represents the altered nuclear acid. (B) Pedigree of the patient's family. (C) Her parents were all heterozygous for c.985_987delTACinsAA (p.Y329Kfs*90) pathogenic variant.
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Further whole-exome sequencing of the patient indicated that she was homozygous for c.985_987delTACinsAA (p.Y329Kfs*90) in exon 6 of the CYP17A1 gene ( Figure 3A ). Although her parents were apparently not consanguineous, they were all heterozygous carriers of this pathogenic variant ( Figures 3B, C ).