Histology of gonads in children with XX SRYnegative ovotesticular DSD
Daniela GORDUZA, MD1, Faustin MOUAFO TAMBO, Pr2, Jacques BIRRAUX, MD3, Ingrid PLOTTON, MD4, Claire Lise GAY, MD5, Frederique DIJOUD, MD6, Anne Laure ROUGEMONT-PIDOUX, MD7, Pierre-Yves MURE, Pr1.
1Hopital Femme Mere Enfant, Hospices Civils de Lyon, Department of Pediatric Surgery and Urology, Bron, France, 2Gyneco-Obstetric and Pediatric Hospital of Yaound, Faculté de médecine et des sciences biomédicales de l'Université de Yaoundé, Department of Pediatric Surgery, Yaoundé, Cameroon, 3Geneva University Hospitals, Hôpital des Enfants Geneve, Department of Pediatric Surgery, Geneve, Switzerland, 4Hopital Femme Mere Enfant, Hospices Civils de Lyon, Centre de Biologie et Pathologie Est, Molecular Endocrine and rare Disease Department, Bron, France, 5Hopital Femme Mere Enfant, Hospices Civils de Lyon, Department of Pediatric Endocrinology, Bron, France, 6Hopital Femme Mere Enfant, Hospices Civils de Lyon, Centre de Biologie et Pathologie Est, Department of Pathology, Bron, France, 7Geneva University Hospitals, Hôpital des Enfants, Department of Pathology, Geneve, Switzerland.
BACKGROUND: Among disorders of sexual development (DSD), the ovotesticular DSD (OTDSD) group is a very rare condition defined by the presence of both ovarian and testicular tissues in a same individual. Presentations may vary from ovotestis gonads to one testis and a contralateral ovary. Numerous cases were reported with various karyotypes, but 46,XX forms appears to be the most common.The study reports on a large series of XX OTDSD in children with the aim of focusing histological analysis of gonads.
METHODS: The charts of the children diagnosed with XX SRY negative OTDSD managed in a 9 year period (2009 to 2018) were retrospectively analyse. Conservative gonadal surgery was performed. Gonadal parts non-concordant with gender assignments were addressed to pathologists. Histology and immunohistochemistry (FOXL2, OCT4, Calretinin, SRY, SOX9, SF1, Inhibin B) slides were independently reviewed by 2 pathologists.
RESULTS: Forty gonads from 22 patients were analysed (mean age 9.3 years at surgery). All patients presented at least one ovotestis(7 patients displaying bilateral ovotestis)(n=29). Of remaining gonadal specimens, 9 were pure ovary and 2 pure testes. During surgery, 25 ovotestis showed a well-defined demarcation between testicular and ovarian tissues. The ovarian tissue (n=38) both ovotestis and pure ovary was normal appearing with follicles at varying stages of maturation. Testicular tissue (n= 31), both ovotestis and pure testes, showed histological lesions: moderate to severe germinal hypoplasia with Sertoli cells only profile on pubescent gonad, mild dysplasia (architectural disorganization/or irregular or branched tubules). Leydig hyperplasia was observed in only one pubescent patient, calcospherites in 5 gonads. There was neither tumoral lesion nor pretumor lesion (gonadoblastoma, GCNIS) nor undifferentiated gonadal tissue. OCT4 immunostaining was negative in all gonadal specimens.
CONCLUSIONS: This histological study of a large cohort of XX SRY negative OTDSD showed normal ovarian tissue but abnormal testis tissue (mild dysplasia, absence or few germ cells) without tumoral or pretumor lesion.
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