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[True hermaphroditism with bilateral ovotestis]

A Güitrón1, G Forsbach, J M González

  • 1Departamento de Ginecología, Hospital de Gineco Obstetricia Dr. Morones, IMSS, NL.

Ginecologia Y Obstetricia De Mexico
|April 7, 1998
PubMed
Summary

This case study details a 19-year-old female with disorders of sex development (DSD) and ovotestis. Despite being raised female, she presented with male hormone levels and ambiguous genitalia, requiring surgical intervention.

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Area of Science:

  • Endocrinology
  • Genetics
  • Reproductive Medicine

Background:

  • Disorders of Sex Development (DSD) encompass a range of conditions affecting reproductive anatomy.
  • Ambiguous genitalia require careful diagnosis and management, often involving genetic and hormonal evaluation.
  • Delayed medical intervention in DSD can complicate diagnosis and treatment.

Observation:

  • A 19-year-old individual presented with a history of ambiguous genitalia, raised as female, with delayed presentation of puberty.
  • Physical examination revealed normal female secondary sexual characteristics (Tanner V), fused labio-scrotal folds, a large phallus with chordee, and an introitus.
  • Hormonal analysis showed adult male testosterone levels, and karyotype confirmed 46,XX.

Findings:

  • Pelvic ultrasonography and laparoscopy confirmed a uterus and bilateral ovotestis.

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  • Congenital adrenal hyperplasia was ruled out through hormonal testing.
  • The patient had a 46,XX karyotype with testosterone levels in the adult male range.

    • Implications:

    • This case highlights the importance of early diagnosis and management of DSD, even with parental refusal of treatment.
    • Surgical intervention, including gonadectomy and genital reconstruction, can be performed to align physical characteristics with gender identity.
    • Understanding the hormonal and genetic basis of DSD is crucial for appropriate patient care and counseling.