Abstract
Disorders of sex development (DSD) are a group of congenital conditions associated with anomalous development of internal and external genital organs. Ovotesticular disorder of sex development (OT-DSD) is a condition in which a child is born with both testicular tissue (that possesses variable fertility potential within seminiferous tubules) and ovarian tissue (with primordial follicles). These tissues may be co-existent in the same gonad (ovotestis) or independently in separate gonads.Here, we report the clinical case of a 21-month-old boy that we met during a humanitarian surgical mission performed at Hospital Dr. Francisco Moscoso Puello, Santo Domingo, Dominican Republic. The child was referred for management of hypospadias, cryptorchidism, and symptomatic right inguinal and umbilical hernias. With further chromosomal evaluation, the diagnosis of SRY-negative OT-DSD was made, and shared decision-making was used to determine the timing of gender assignment, reconstruction, and the child’s long-term care team.OT-DSD is an uncommon condition with unclear causes. Once a DSD condition is suspected at birth, a complete investigation should be performed, encompassing a descriptive examination, a basic electrolyte and hormonal profile, genetic assessment, and pelvic ultrasound. Consultation with a multidisciplinary team is warranted, including pediatric urology or pediatric surgery with urologic training, endocrinology, genetics, psychology, pathology, and the patient’s pediatrician at minimum before surgical reconstruction. It is crucial to involve the patient and their family with shared decision-making before surgery or gender assignment.
Highlights
OT-Disorders of sex development (DSD) is an uncommon condition with unclear causes
Disorders of sex development (DSD) are a group of congenital conditions associated with anomalous development of internal and external genital organs
Ovotesticular disorder of sex development (OT-DSD), formerly called true hermaphroditism, is a condition in which a child is born with both testicular tissue and ovarian tissue
Summary
Disorders of sex development (DSD) are a group of congenital conditions associated with anomalous development of internal and external genital organs. The risks of surgery cannot be understated and were discussed with the family, including roughly 50% chance of urethrocutaneous fistula or stricture repair, as well as additional risks of glans dehiscence, urethral diverticulum with post-void dribbling, persistent or recurrent penile curvature, and urinary tract infections (UTIs) or leakage related to the large utricle/Mullerian remnant The latter should only be resected if it becomes symptomatic with recurrent UTIs. Given the risk of multiple surgical complications and the need for a multidisciplinary team, it was determined in the child’s best interest to refer to the Pediatric Surgery Department at the Hospital Infantil Dr Robert Reid Cabral, which has the ability to coordinate referrals to psychology, endocrinology, genetics, and pediatric specialists
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
