Gonadectomy in patients with disorder of sexual development

Abstract

Objective: The objective of this study is to investigate clinical characteristics and treatment outcomes of patients with disorder of sexual development (DSD) who underwent gonadectomy at a single tertiary center. Materials and Methods: We retrospectively enrolled patients with DSD who received gonadectomies in our hospital from 2000 to 2015. The clinical presentations, laboratory tests, image studies, operative findings, and pathology reports were collected by reviewing medical records. Results: A total of 18 patients with DSD were analyzed, including 17 46XY karyotype and one 45X/46XY karyotype. Among them, 17 patients were assigned female gender. The most common diagnoses were androgen insensitive syndrome (n = 5), 46XY gonad dysgenesis (n = 5), and 17α-hydroxylase deficiency (n = 3). Initial presentations included amenorrhea (n = 9), ambiguous genitalia (n = 5), and abnormal prenatal screening (n = 3). The peak age of gonadectomies was 5 at infantile (1–2 years) and 7 at adolescent period (11–15 years). A total of 19 gonadectomies were performed without complications; pure inguinal approach in 6, inguinal plus laparoscopy exploration in 13. There were no malignancies in all resected gonads; in addition, spermatogenesis was found in only one resected gonad. Conclusions: Female gender assignment was more frequently chosen in our series. The presentations and diagnoses in children with DSD were various; it is important to select individualized treatment strategy for these patients.

Keywords

• Disorder of sexual development
• gonadectomy
• gonadoblastoma