46,XX male disorder of sexual development: A case report

The main factor influencing sex determination of an embryo is the sex-determining region y (sry),a master regulatory gene located on the y chromosome. the presence of sry causes the bipotential gonad to differentiate into a testis. however,some individuals carry a y chromosome but are phenotypically female (46,xy females) or have a female karyotype but are phenotypically male (46,xx males). 46,xx male is rare (1:20 000 in newborn males),and sry positivity is responsible for this condition in approximately 90% of these subjects. external genitalia of 46,xx sry-positive males appear as normal male external genitalia,and such cases are diagnosed when they present with small testes and/or infertility after puberty. herein,we report an adolescent who presented with low testicular volume and who was diagnosed as a 46,xx male. sry positivity was demonstrated in the patient by fluorescence in situ hybridization method. © journal of clinical research in pediatric endocrinology,published by galenos publishing.