A RARE CASE OF XY DISORDER OF A CHILD WITH AMBIGUOUS GENITALIA AND UNILATERAL ANORCHIA

Dehankar R. N.*, Ksheersagar D. D. and Paikrao V. M.

ABSTRACT

Introduction: In this disorder of sex development (DSD) the chromosome number is 46 XY. The pattern is normally found in males. In this condition an individual have one X chromosome and one Y chromosome in each cell. The genitalia of the individual cannot be distinguished clearly whether they belong to male or female. Infants having this disorder tend to have penoscrotal hypospadias, abnormal development of the testes, and reduced to no sperm production. Methodology: 8 yr old male child came with complaints of abnormal genitalia since birth. On examination, Visual anatomical analysis, Karyotyping and ultrasonographic evaluation like pelvic ultrasonography and transrectal ultrasonography done. Result: the child has a micropenis and on left sided unilateral anorchia. Urination through the female like orifice with labia major likes structure present anterior to micropenis. The pubic hairs are yet to develop. karyotyping the 47,XY karyotype is confirmed. After considering case history both parents were found to be first-degree cousins. Conclusion: The 46, XY DSD may be raised as males or females. The patients may have increased risk for gonadal tumors and may benefit from regular surveillance or surgery to remove abnormally developed gonads. The reconstructive surgery to external genitilia is advisable to be raised as males or females on maturity.

Keywords: disorder of sex development, unilateral anorchia, Karyotyping, Ultrasonography.