TITLE:
46,XX/46,XY Chimera with Ovotesticular Disorder of Sex Development (OT-DSD): A Rare Entity
AUTHORS:
Mama Sy, Chérif Mouhamed Dial, Racha Ibondou, Abdoulaye Séga Diallo, Abdoulaye Ba, Oumar Faye
KEYWORDS:
Ovotestis-Disorder of Sex Development-DSD-Chimera, Hypospadias
JOURNAL NAME:
Open Journal of Genetics,
Vol.14 No.4,
October
31,
2024
ABSTRACT: Ovotesticular disorder of sex development (OT-DSD) is a condition in which, both testicular tissue and ovarian tissue are co-existent in the same gonad (ovotestis) or independently in separate gonads characterizing the anatomical form of lateral ovotestis. Here, in this study, we report a case of lateral ovotestis associated with a chimera, Chi 46,XX/46,XY. He presented for fertility assessment and karyotyping because of DSD characterized by gynecomastia associated with hypospadias; Karyotyping of peripheral blood revealed a 46,XX/46,XY chimeric condition confirmed by SNP array analysis. After surgical exploration, an hemi-uterus with its tube and gonad was found and remove. Histology revealed ovarian tissue with follicules at different stage while semen analysis revealed a severe oligoastheno teratozoospermia. A gonad was palpable on the right hemiscrotum and ultrasound showed a testis structure. The patient clamed conservation of its testicle and requested bilateral mastectomy. A multidisciplinary approach was warranted to establish this rare entity’s diagnosis and its management. In the case of gonad preservation, the risk of gonadoblastom is to be discussed and follow up recommended.