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Objective <p>To investigate the clinical and genetic characteristics of ovotesticular disorders of sex development (OT-DSD) in our center, and lay a foundation for subsequent precision and individualized treatment.</p> Methods <p>Inclusion criteria: (1) Children with disorders of sex development (DSD) who underwent surgical hospitalization in the Department of Urology, Guangzhou Women and Children’s Medical Center between 2015 and 2021; (2) Pathological findings confirming OT-DSD; (3) Available genetic testing results. Exclusion criterion: Incomplete basic clinical data. Required basic clinical data included: (1) Age and sex at initial diagnosis; (2) External genitalia physical examination; (3) Ultrasound or Magnetic Resonance Imaging (MRI) findings; (4) Chromosomal analysis.</p> Results <p>(1) A total of 24 children were enrolled in the study; (2) Age at enrollment ranged from 6 months to 10 years, with a mean of 30.5 months; (3) The preoperative male-to-female sex ratio was 13:11; (4) Twenty-two cases presented with ambiguous external genitalia, one was detected with an inguinal mass, and one had breast development; (5) The mean Prader stage was 3; (6) Chromosomal results showed 18 cases (75.0%) with 46,XX, five cases (20.8%) with sex chromosome mosaicism, and one case (4.2%) with 46,XY; (7) Two cases (8.3%) carried heterozygous NR5A1 mutations; the remaining cases had no definite pathogenic mutations or lacked genetic testing; 8. Nineteen cases underwent vulvar surgery, including two who received gender-affirming surgery (the others retained their original sex). Five cases did not undergo surgery due to undetermined gender. Among the 19 surgically treated cases: No serious complications occurred in female-assigned patients (0/8); Recurrent urethral fistula was observed in 2 male-assigned patients (2/11, 18.2%).</p> Conclusion <p>Ovotesticular disorders of sex development (OT-DSD) exhibit diverse clinical features and an extremely broad phenotypic spectrum. Additionally, single-gene testing has limited efficacy in detecting causative mutations. Gonadal composition cannot be inferred solely from gross appearance. To avoid missed diagnoses, biopsies should be obtained as deeply as possible while preserving most gonadal tissue, and samples from both the upper and lower poles of the gonads are recommended. Gonad selection and gender assignment are both critical and complex processes; decisions should be made following consultations with a Multi-Disciplinary Team (MDT) and based on family preferences. Long-term follow-up to monitor malignancy risk is necessary for all cases where gonad selection remains undecided or where gonads with opposite chromosomal characteristics are retained.</p>

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Clinical features and genetic characteristics of ovotesticular disorders of sex development: 24 cases from a single center

  • 期刊论文

  • 发表日期：

    2025年12月17日

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  • Dian Li,
  • Xiangliang Tang,
  • Tianxin Zhao,
  • Gaochen Bai,
  • Rui Zhou,
  • Wen Fu,
  • Liyu Zhang,
  • Guochang Liu

摘要

Objective

To investigate the clinical and genetic characteristics of ovotesticular disorders of sex development (OT-DSD) in our center, and lay a foundation for subsequent precision and individualized treatment.

Methods

Inclusion criteria: (1) Children with disorders of sex development (DSD) who underwent surgical hospitalization in the Department of Urology, Guangzhou Women and Children’s Medical Center between 2015 and 2021; (2) Pathological findings confirming OT-DSD; (3) Available genetic testing results. Exclusion criterion: Incomplete basic clinical data. Required basic clinical data included: (1) Age and sex at initial diagnosis; (2) External genitalia physical examination; (3) Ultrasound or Magnetic Resonance Imaging (MRI) findings; (4) Chromosomal analysis.

Results

(1) A total of 24 children were enrolled in the study; (2) Age at enrollment ranged from 6 months to 10 years, with a mean of 30.5 months; (3) The preoperative male-to-female sex ratio was 13:11; (4) Twenty-two cases presented with ambiguous external genitalia, one was detected with an inguinal mass, and one had breast development; (5) The mean Prader stage was 3; (6) Chromosomal results showed 18 cases (75.0%) with 46,XX, five cases (20.8%) with sex chromosome mosaicism, and one case (4.2%) with 46,XY; (7) Two cases (8.3%) carried heterozygous NR5A1 mutations; the remaining cases had no definite pathogenic mutations or lacked genetic testing; 8. Nineteen cases underwent vulvar surgery, including two who received gender-affirming surgery (the others retained their original sex). Five cases did not undergo surgery due to undetermined gender. Among the 19 surgically treated cases: No serious complications occurred in female-assigned patients (0/8); Recurrent urethral fistula was observed in 2 male-assigned patients (2/11, 18.2%).

Conclusion

Ovotesticular disorders of sex development (OT-DSD) exhibit diverse clinical features and an extremely broad phenotypic spectrum. Additionally, single-gene testing has limited efficacy in detecting causative mutations. Gonadal composition cannot be inferred solely from gross appearance. To avoid missed diagnoses, biopsies should be obtained as deeply as possible while preserving most gonadal tissue, and samples from both the upper and lower poles of the gonads are recommended. Gonad selection and gender assignment are both critical and complex processes; decisions should be made following consultations with a Multi-Disciplinary Team (MDT) and based on family preferences. Long-term follow-up to monitor malignancy risk is necessary for all cases where gonad selection remains undecided or where gonads with opposite chromosomal characteristics are retained.