A rare case of mixed gonadal dysgenesis: 45, X0/ 46, X, +mar 1/ 46, X, +mar 2


Carolina Talini, Leticia Alves Antunes, Bruna Cecilia Neves de Carvalho, Taís Soares de Carvalho, Anne Twadowsky Didonato, Veruska Peron, Karin Lucilda Schultz, Maria Helena Camargo Peralta del Valle

This study aims to report a rare case of mixed gonadal dysgenesis with mosaicism pattern 45 X0 / 46, X, +mar 1/ 46, X, +mar 2. Patient referred to the pediatric urology service with 2 months of age. Right after the baby was born it was not possible do determine the baby's gender. The karyotype was inconclusive: 45, X0. Contrast genitography and uretrocystogram showed a single perineal orifice below the micropenis and between the bifid scrotum, opacification of the bladder with male aspect urethra during urination and short penile urethra. There was also opacification of the posterior vaginal cavity with low junction to the posterior urethra and a linear opacity image suggesting uterine canal. Laparoscopy revealed bilateral gonadal bands and spermatic elements entering the inguinal canal. Mlerian derivatives were absent. Gonadal biopsy was performed and concluded that these were abnormal infantile testes. Microarray testing took a few months and resulted in: 45 X0 / 46, X, +mar 1/ 46, X, +mar 2. Patient was kept on topic androstenedione for 6 months and then underwent penoscrotal hypospadias correction. Mosaic chromosomal pattern is a rare condition that can present with a wide variety of phenotypes. Early recognition has important implications on these patients social and psychological life and also for their proper management.


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