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[Morris syndrome: clinical contribution]

A D'Antonio1, A Palermo, M Diletto

  • 1Divisione di Neonatologia, Ospedale S. Gennaro di Napoli, Italia.

La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics
|July 1, 1997
PubMed
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This case study details a newborn female diagnosed with Morris syndrome, characterized by a strict vaginal ostium and inguinal testicles. Genetic analysis confirmed the 46XY karyotype, identifying this rare condition.

Area of Science:

  • Reproductive medicine
  • Pediatric endocrinology
  • Medical genetics

Background:

  • Morris syndrome, also known as Complete Androgen Insensitivity Syndrome (CAIS), is a rare disorder of sex development.
  • Individuals with CAIS have a 46XY karyotype but develop female external genitalia due to the inability of cells to respond to androgens.
  • It is typically diagnosed in individuals with primary amenorrhea and undescended testes.

Observation:

  • A newborn female presented with a strict vaginal ostium and bilateral inguinal testicles.
  • Echography confirmed the presence of inguinal testicles.
  • The patient exhibited external female genitalia despite the presence of testes.

Findings:

  • Karyotype analysis revealed a 46XY chromosomal complement.

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  • These clinical and genetic findings are consistent with a diagnosis of Morris syndrome (Complete Androgen Insensitivity Syndrome).

    • Implications:

    • This case highlights the importance of thorough clinical evaluation and genetic testing in ambiguous genitalia cases.
    • Early diagnosis of Morris syndrome is crucial for appropriate management, including surgical and hormonal considerations.
    • Understanding the genetic basis of CAIS aids in genetic counseling for affected families.