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True hermaphrodite--a case report

C H Yip1, R Pathmanathan

  • 1Department of Surgery, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.

Singapore Medical Journal
|February 1, 1996
PubMed
Summary
This summary is machine-generated.

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This case report details a male with mixed gonadal dysgenesis, presenting with hypospadias and later gynaecomastia. The condition involves a 46XX/46XY karyotype, impacting sexual development and fertility.

Area of Science:

  • Reproductive Endocrinology
  • Genetics
  • Urology

Background:

  • True hermaphroditism, a rare disorder of sex development (DSD), is characterized by the presence of both ovarian and testicular tissue.
  • Individuals with this condition often present with ambiguous genitalia or later developmental abnormalities.
  • The 46XX/46XY mosaic karyotype is a common genetic finding in true hermaphroditism.

Observation:

  • A male patient with a 46XX/46XY karyotype was diagnosed at age 9 with hypospadias and an undescended testis.
  • At age 23, he presented with bilateral gynaecomastia, low testosterone, and oligospermia, despite claiming sexual activity.
  • Impotence emerged a year after marriage, prompting further investigation.

Findings:

  • The patient exhibited classic signs of true hermaphroditism, including ambiguous genitalia and secondary sexual characteristic abnormalities.

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  • Hormonal evaluation revealed hypogonadism, consistent with impaired testicular function.
  • Reduced sperm count indicated significant subfertility or infertility.

    • Implications:

    • This case highlights the complex clinical manifestations and diagnostic challenges of true hermaphroditism.
    • Understanding the genetic and hormonal basis is crucial for managing DSD and associated reproductive issues.
    • Early diagnosis and comprehensive management can improve outcomes for individuals with true hermaphroditism.