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A case of ambiguous genitalia presenting with a 45,X/46,Xr(Y)(p11.2;q11.23)/47,X,idic(Y)(p11.2),idic(Y)(p11.2)

M Dundar1, G Lowther, H Acar

  • 1Erciyes University, School of Medicine, Depatment of Medical Genetics, 38039, Kayseri, Turkey

Annales De Genetique
|May 4, 2001
PubMed

Insights

This study reports a rare case of ambiguous genitalia in an infant with a complex chromosomal abnormality involving the Y chromosome. The findings highlight the challenges in diagnosing sex development disorders.

Area of Science:

  • Genetics
  • Pediatrics
  • Reproductive Medicine

Background:

  • Ambiguous genitalia requires thorough investigation to determine underlying genetic and anatomical causes.
  • Sex chromosome abnormalities are a significant factor in disorders of sex development (DSD).

Observation:

  • An infant presented with ambiguous genitalia, including a small phallus and perineal orifice.
  • Karyotyping revealed a complex mosaicism: 45,X/46,X,r(Y)(p11.2;q11.23)/47,X,idic(Y)(p11.2),idic(Y)(p11.2).

Findings:

  • Despite the Y chromosome abnormalities, the infant lacked typical Turner syndrome features.
  • Genital ultrasound confirmed an infantile uterus, and endoscopic examination showed a normal vagina, uterus, and cervix.

Implications:

  • This case underscores the variability in phenotypic presentation of Y chromosome structural abnormalities.
  • Accurate genetic and anatomical assessment is crucial for managing infants with ambiguous genitalia and DSD.

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