(68) Inguinal Hernia Containing the Uterus in a Case of 46 XX Ovotesticular Disorder of Sex Development

Background: Ovotesticular Disorder of Sex Development (OT-DSD), in which patients possess both ovarian and testicular tissue, is the rarest disorder of sex development. Phenotypic presentation of external and internal genitalia can vary, and the presence of a uterus within an inguinal hernial sac (i.e., hernia uteri inguinalis) has rarely been documented. Here, we report the first case in a 46XX, phenotypically female patient, highlighting the importance of considering gender identity prior to surgical management of such complications.

Case: Patient first presented to care at 34 months of age when she was diagnosed with 46XX OT-DSD. Born in China, she was evaluated for ambiguous genitalia at birth and underwent a clitoral reduction, vaginoplasty, labiaplasty, and gonadal biopsy prior to adoption at 31 months. Biopsies confirmed the left gonad contained ovarian tissue, while the right gonad contained structures consistent with a testis. The right gonad was reported to be herniated and apparently removed per the operative report. At initial presentation to our institution, appearance was phenotypically female. Exam was notable for mildly hyperpigmented and rugated labia majora without palpable gonads, palpable cord structures in bilateral inguinal regions, and a normal urethral meatus. Ultrasound demonstrated a prepubertal uterus with a 1mm endometrial stripe, bilateral hypoechoic inguinal structures representing gonads, and a left-sided inguinal hernia likely containing spermatic cord or fallopian tube tissue. Genetic testing showed no SRY translocation. Patient was again evaluated at 10 years of age, at which time she clearly identified as female. A persistent left inguinal hernia was causing her discomfort. The decision was made to surgically correct the defect at 11 years of age. Upon entry of the hernia sac, a rudimentary uterine horn without connection to the neovagina, fallopian tube, and ovary were identified. No right-sided Mullerian structure, vas deferens, or gonad was identified upon abdominal entry. A hemi-hysterectomy was performed due to concerns for active endometrium within the uterus. The left-sided fallopian tube and ovary were placed in the abdomen before final closure.

Comments: Only 6 other cases of hernia uteri inguinalis have been reported within this population to our knowledge. While her initial anatomical appearance is not well documented, this is the first case in a female-assigned, female-identifying patient. In pursuing a patient-focused approach to care, this case highlights the importance of considering gender identity prior to any procedure that may result in loss of reproductive organs.