45 XO/46 XY male with deletion of long arm of Y chromosome: a rare cause for ambiguous gender

ABSTRACT

Disorders of sex development are among the most complex conditions for which many a time no definitive cause can be found. The birth of a child with ambiguous genitalia represents a big challenge and a multidisciplinary team is required for the diagnosis and management of these patients. We present a case of a 5 year old child whose external genitalia were not well formed and he presented with undescended testes. His ultrasound showed presence of both testes in deep inguinal ring and small left sided uterus. Developmentally and intellectually tire child seemed fine for his age. He was initially brought up as a girl but was upset and felt himself misfit and when he was dressed and made to play with boys his personality changed altogether and he became a lively cheerful child. He was referred for cytogenetic studies and showed 45XO karyotype in 90% metaphases and 46, Xdel[Yq] in 10% metaphases with a small Y chromosome having a significantly deleted q arm.