Report of a 45, X male with monoorchism and distal hypospadias

Abstract

We present the rare case of a 5-year-old boy with a 45, X karyotype. The boy's family pedigree analysis was unremarkable. On admission, he was 97.4 cm tall (2.0 SD below normal references) and weighed 13.9 kg (1.0 SD below normal references). Mild mental retardation was suspected on the PPVT scale. Physical examination revealed a well-developed penis with subglanular hypospadias. His left testis was located well down at the bottom of the scrotum and the right testis was impalpable. Unilateral testicular agenesis and persistence of müllerian remnants within the hernia sac were noted on the previous records of inguinal exploration on the right side. The left testis was biopsied through a scrotal incision and prepubertal testicular tissue was confirmed. No ovary was found on laparotomy exploration. Hypospadias was repaired with meatal advancement and glanuloplasty (MAGPI) urethroplasty. His postoperative course was uneventful. Our report represents a rare case of a boy with a 45, X karyotype. Current theories for testicular development were reviewed.