Unusual virilization in girls with juvenile granulosa cell tumors of the ovary is related to intratumoral aromatase deficiency.

[aromatase deficiency]

Hyperandrogenism is a rare symptom of juvenile ovarian granulosa cell- tumors (JGCTO ). This study aimed to determine whether hyperandrogenism was related to overexpression of SOX 9 , decreased expression of FOXL 2 or absent aromatase expression in tumor with particular scheme of expression of P 450 scc and P 450 c 17 alpha .T hrough a nationwide study including the French Society of Pediatric Oncology , 6 /30 patients with JGCTO presented with clinical hyperandrogenism and high plasma testosterone . Tumor specimens underwent immunofluorescence (SOX 9 , FOXL 2 ) and immunochemistry (aromatase , P 450 scc , P 450 c 17 alpha ). Results were compared with patients without hyperandrogenism .S OX 9 was expressed in the granulosa cell nucleus in 2 /6 cases but also in 9 /24 tumors without hyperandrogenism (p =n .s .). FOXL 2 was absent or decreased in 3 /6 cases of JGCTO with hyperandrogenism with no statistical difference from the group without this symptom . In 6 /6 patients , the intratumoral expression of aromatase was absent (n =5 ) or dramatically reduced (n =1 ). In contrast , 15 /24 patients without virilization exhibited conserved aromatase expression in their tumor (p <0 .05 ). A variable number of tumoral cells expressed P 450 scc while some interstitial cells were focally immunopositive for P 450 c 17 alpha .Unusual virilization in girls with JGCTO is not explained by a dysregulation in SOX 9 or FOXL 2 expression , but is related to a localized defect of aromatase expression in granulosa cells and to the ability of interstitial cells to produce testosterone .

Diseases
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Diseases presenting "high plasma testosterone" symptom

aromatase deficiency

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