46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy

NEVADO J, ; CASTERA R, ; PODESTÁ M, ; GRINSPON RP, .; DEL REY G, ; A CHIESA; REY RA; MORI ALVAREZ ML, ; VENARA M, ; LAPUNZINA P,

CLINICAL ENDOCRINOLOGY

WILEY-BLACKWELL PUBLISHING, INC

Lugar: Londres; Año: 2016 vol. 85 p. 673 - 675

0300-0664

Title: 46,XX ovotesticular DSD in the absence of SRY gene associated to SOX3 duplicationBackgroundOvotesticular DSD is a rare disorder defined by the presence of both ovarian and testicular tissue in the same individual. SRY is present in approximately 1/3 of patients with 46,XX ovotesticular DSD. In SRY-negative ovotesticular DSD, the mechanism responsible for the presence of testicular tissue is not yet understood. Case presentation: A male patient was referred to us for hypospadias and bilateral cryptorchidism at 2.5 years of age. He had a trophic phallus (32 mm x 13 mm) with coronal hypospadias and hypoplastic scrotum. Right gonad was palpable in the inguinal region; no gonad was palpable on the left side. Basal AMH (216 pmol/L) and hCG-stimulated testosterone (30 ng/dl) were low, indicating that dysgenetic testicular tissue was present. Gonadotrophins were not elevated, with FSH predominance (LH