Ovotesticular Disorder of Sex Development: An Unusual Presentation

Abstract

Disorder of sex development is an inclusive term that refers to any problem where the genital organ is atypical in relation to chromosomes or gonads. Ovotesticular disorder of sex development, which is formerly known as "true hermaphroditism," is the most rare form among all disorders of sex development in humans. It is characterized by the simultaneous presence of both ovarian and testicular tissues in the same individual and characteristically presents with ambiguous genitalia in neonates or infants. Herein, we present an unusual case of a 19-year-old individual with phenotypically nearly normal male genitalia who presented with the complaint of bilateral breast enlargement.

Keywords: Intersexuality; Ovotestis; Sex differentiation disorders; True hermaphroditism.

Figure 1:

A 19-year-old individual with ovotesticular disorder of sex development who presented with progressive bilateral breast enlargement. (a) Midsagittal T2-weighted MRI section shows a small male phallus (blue arrow). (b) Parasagittal T2-weighted MRI section through the prostatic urethra demonstrates a hypoplastic prostate (green arrow), a normal-looking vagina (yellow arrow), and a hypoplastic uterus (red arrow). (c) Parasagittal T2-weighted MRI section depicts a hypoplastic prostate (green arrow), a normal- looking vagina (yellow arrow), and a hypoplastic uterus (red arrow). (d) Parasagittal T2-weighted MRI section through the left inguinal region shows the undescended left gonad (purple arrow).

Figure 2:

A 19-year-old individual with ovotesticular disorder of sex development who presented with progressive bilateral breast enlargement. (a) Parasagittal T2-weighted MRI section through the left inguinal region shows the left gonad containing a large number of high signal foci, consistent with cystic areas (arrow). (b) Parasagittal T2-weighted MRI section through the left inguinal region demonstrates the vas deferens adjacent to the left gonad (arrow). (c) Coronal short tau inversion recovery MR image shows the left gonad located in the left inguinal region (arrow). (d) Axial fat-suppressed T2-weighted MR image depicts the undescended left gonad (arrow).

Figure 3:

A 19-year-old individual with ovotesticular disorder of sex development who presented with progressive bilateral breast enlargement. (a) Coronal short tau inversion recovery MR image shows the hypoplastic prostate (green arrow) and the hypoplastic uterus (red arrow). (b) Coronal short tau inversion recovery MR image demonstrates multiple disorganized tubular structures at both seminal vesicle locations (blue arrows). Note the hypoplastic uterus adjacent to the bladder (red arrow). (c) Axial fat-suppressed T2-weighted MR image depicts the hypoplastic prostate (green arrow). (d) Axial fat-suppressed T2-weighted MR image shows multiple disorganized tubular structures at both seminal vesicle locations (blue arrows).