Akademik Veri Yönetim Sistemi
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.5, sa.4, ss.258-260, 2013 (SCI-Expanded, Scopus)
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.